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Neurological Examination (neurological + examination)
Selected AbstractsThe clinical and cultural factors in classifying low back pain patients within Greece: a qualitative exploration of Greek health professionalsJOURNAL OF EVALUATION IN CLINICAL PRACTICE, Issue 3 2007Evdokia V. Billis MSc Abstract Rationale, aims and objectives, Identifying homogenous subgroups of low back pain (LBP) patients is considered a priority in musculoskeletal rehabilitation and is believed to enhance clinical outcomes. In order to achieve this, the specific features of each subgroup need to be identified. The aim of this study was to develop a list of clinical and cultural features that are included in the assessment of LBP patients in Greece, among health professionals. This ,list' will be, utilized in a clinical study for developing LBP subgroups. Methods, Three focus groups were conducted, each one comprising health professionals with homogenous characteristics and all coordinated by a single moderator. There were: 11 physiotherapists (PTs) with clinical experience in LBP patients, seven PTs specialized in LBP management, and five doctors with a particular spinal interest. The focus of discussions was to develop a list of clinical and cultural features that were important in the examination of LBP. Content analysis was performed by two researchers. Results, Clinicians and postgraduates developed five categories within the History (Present Symptoms, History of Symptoms, Function, Psychosocial, Medical History) and six categories within the Physical Examination (Observation, Neurological Examination, Active and Passive Movements, Muscle Features and Palpation). The doctors identified four categories in History (Symptomatology, Function, Psychosocial, Medical History) and an additional in Physical Examination (Special Tests). All groups identified three cultural categories; Attitudes of Health Professionals, Patients' Attitudes and Health System influences. Conclusion, An extensive Greek ,list' of clinical and cultural features was developed from the groups' analysis. Although similarities existed in most categories, there were several differences across the three focus groups which will be discussed. [source] Twelve-month neurodevelopmental outcome in preterm infants with and without intrauterine growth restrictionACTA PAEDIATRICA, Issue 10 2010Nelly Padilla Abstract Aim:, To evaluate the neurodevelopmental outcome at 12 months' corrected age in preterm infants with and without severe intrauterine growth restriction. Methods:, This prospective follow-up study included 37 infants with severe intrauterine growth restriction and 36 appropriate-for-gestational-age infants born between 26 and 34 weeks. Neonatal and infant data were prospectively recorded. Infants were assessed at 12 ± 2 months' corrected age with the Hammersmith Infant Neurological Examination and the Bayley Scale for Infant Development version-II. Results:, Both groups were similar in demographic characteristics and perinatal status. No significant differences in neurodevelopmental performance were found. The mental development index was 98.8 (SD 9.0) vs 98.4 (SD 13.1) (p = 0.9) and the psychomotor development index was 91.7 (SD 9.9) vs 95.5 (SD 13.4) (p = 0.2) for the study and reference groups respectively. Neurological assessment showed no significant differences between the two groups. Conclusion:, Although the study group showed a non-significant trend towards a lower score in the psychomotor development index than the reference group, significant differences at 12 months could not be demonstrated. IUGR infants continued to have significantly lower weight, length and head circumference at 1 year. [source] Five-year follow-up of prematurely born children with postnatally developing caudothalamic cystsACTA PAEDIATRICA, Issue 2 2010A Lind Abstract Aim:, To assess the long-term developmental outcome of very low birth weight children with postnatally developing caudothalamic cysts. Methods:, Five very low birth weight children with postnatal caudothalamic cysts were examined using cranial ultrasound and brain Magnetic Resonance Imaging as neonates, the Bayley Scales of Infant Development, 2nd edition, and the Hammersmith Infant Neurological Examination at 2 years of corrected age, and with the Wechsler Preschool and Primary Scale of Intelligence-Revised and the standardization version of NEPSY II at 5 years of age. The Magnetic Resonance Imaging of the brain was repeated at 5 years of age. The developmental outcome at 5 years of age was compared with that of 23 very low birth weight children with normal brain structure. Results:, A cognitive level below normal and/or neuropsychological impairments was seen in all the children with caudothalamic cysts as well as in those with normal brain structure. Conclusion:, Very low birth weight children with postnatally developing caudothalamic cysts had cognitive and neuropsychological impairments similar to very low birth weight children without such cysts. [source] Early prediction of neurological outcome by term neurological examination and cranial ultrasound in very preterm infantsACTA PAEDIATRICA, Issue 3 2009P Amess Abstract Aim: To assess the value of term neurological examination and cranial ultrasound in the early prediction of neurological outcome at 12 months corrected age in a cohort of very preterm infants. Methods: A cohort of 102 preterm infants born at <32 weeks gestation or with a birth weight of <1500 g were assessed using the Hammersmith Term Neurological Examination. They underwent cranial ultrasound examinations according to local guidelines. The Hammersmith Infant Neurological Examination was performed at 12 months corrected age. Scores for the term examinations were compared with scores derived from healthy infants born at term and with scores from low-risk preterm infants at term equivalent age. Term neurological scores and cranial ultrasound findings were compared in the prediction of 12-month neurological outcome. Results: Seventy-eight (76.5%) preterm infants had suboptimal total neurological scores at term when compared to healthy infants born at term. However, most went on to have optimal neurological scores at 12 months corrected age. When our cohort was compared with low-risk preterm infants at term equivalent age only 14 (13.7%) scored outside the normal range. Neither system of scoring predicted neurological outcome at 12 months corrected age as reliably as cranial ultrasound (sensitivity 0.83, specificity 0.87). Conclusion: Neurological examination of preterm babies at term may be unreliable in the prediction of neurological outcome at 12 months corrected age. For early prediction of neurological outcome cranial ultrasound examination was found to be more reliable. [source] Neurological examination of the motor system , in need of standardizationDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 2 2008Peter Baxter Editor No abstract is available for this article. [source] Hereditary neuropathy with liability to pressure palsies associated with central nervous system myelin lesionsEUROPEAN JOURNAL OF NEUROLOGY, Issue 6 2001J. Dac Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder most commonly caused by a 1.5-Mb deletion in chromosome 17p11.2 which contains the peripheral myelin protein-22 (PMP22) gene. Mutations resulting in functional loss of one PMP22 gene copy are less frequent. We present a 51-year-old patient with a l.5-Mb deletion in chromosome 17p11.2 who exhibited signs of peripheral as well as central nervous system lesions. He gave a history of recurrent episodes of limb numbness and weakness with spontaneous but incomplete recovery since age 20. His father and two brothers had similar symptoms. Neurological examination revealed signs of multiple mononeuropathy associated with frontal lobe, corticospinal tract and cerebellar dysfunction, as well as signs of initial cognitive impairment. Electrophysiological investigations showed a demyelinating peripheral nerve disease with multiple conduction blocks and conduction disturbances in both optic nerves. Magnetic resonance imaging of the brain revealed multiple subcortical and periventricular foci of myelin lesions. The association of central and peripheral nervous system lesions in this patient indicates a possible role of PMP22 not only in peripheral but also in central nervous system myelin structure. [source] Dietary phytoestrogens improve stroke outcome after transient focal cerebral ischemia in ratsEUROPEAN JOURNAL OF NEUROSCIENCE, Issue 3 2006María C. Burguete Abstract As phytoestrogens are postulated as being neuroprotectants, we assessed the hypothesis that dietary isoflavone-type phytoestrogens are neuroprotective against ischemic stroke. Transient focal cerebral ischemia (90 min) was induced by middle cerebral artery occlusion (MCAO) following the intraluminal thread technique, both in rats fed with soy-based diet and in rats fed with isoflavone-free diet. Cerebro-cortical laser-Doppler flow (cortical perfusion, CP), arterial blood pressure, core temperature, PaO2, PaCO2, pH and glycemia were measured before, during and after MCAO. Neurological examination and infarct volume measurements were carried out 3 days after the ischemic insult. Dietary isoflavones (both glycosides and aglycones) were measured by high-performance liquide chromatography. Neither pre-ischemic, intra-ischemic nor post-ischemic CP values were significantly different between the soy-based diet and the isoflavone-free diet groups. Animals fed with the soy-based diet showed an infarct volume of 122 ± 20.2 mm3 (19 ± 3.3% of the whole ipsilateral hemisphere volume). In animals fed with the isoflavone-free diet the mean infarct volume was significantly higher, 191 ± 26.7 mm3 (28 ± 4.1%, P < 0.05). Neurological examination revealed significantly higher impairment in the isoflavone-free diet group compared with the soy-based diet group (3.3 ± 0.5 vs. 1.9 ± 0.5, P < 0.05). These results demonstrate that dietary isoflavones improve stroke outcome after transient focal cerebral ischemia in such a way that a higher dietary isoflavone content results in a lower infarct volume and a better neurological status. [source] Primary CNS angiitis presenting as short-term memory loss: a case report and literature reviewINTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, Issue 3 2008Bradley DUHON Abstract Primary angiitis of the central nervous system (PACNS) is an idiopathic vasculitis of the small to medium vessels that often eludes diagnosis because of its variable signs and symptoms. A 36-year-old woman presented with a 4-week history of progressive memory loss. Neurological examination revealed only severe cognitive deficits including anterograde amnesia. Magnetic resonance imaging demonstrated multiple ring-enhancing lesions involving the left frontal lobe and uncus and bilateral thalami. Stereotactic biopsy showed findings consistent with CNS angiitis. Further workup revealed no evidence of systemic disease. We report the first case of biopsy-proven PACNS presenting as profound isolated anterograde amnesia. [source] Sensitivity and Specificity of the Mini-Mental State Examination for Identifying Dementia in the Oldest-Old: The 90+ StudyJOURNAL OF AMERICAN GERIATRICS SOCIETY, Issue 2 2007Kristin Kahle-Wrobleski PhD OBJECTIVES: To evaluate the sensitivity and specificity of the Mini-Mental State Examination (MMSE) in identifying dementia in the oldest-old when stratified by age and education. DESIGN: Cross-sectional. SETTING: Research clinic and in-home visits. PARTICIPANTS: Population-based sample of adults aged 90 and older (n=435) who are enrolled in the 90+ Study, a longitudinal, population-based study. MEASUREMENTS: Neurological examination to determine dementia diagnosis, MMSE, and demographic data. RESULTS: Receiver operating characteristic (ROC) analyses indicated that the MMSE had high diagnostic accuracy for identifying dementia in subjects aged 90 and older across different age and education groups (area under the ROC curve values ranged from 0.82 to 0.98). A range of possible cutoff values and corresponding sensitivity and specificity are provided for the following age groups: 90,93, 94,96, and ,97. Age groups were subdivided by educational attainment (,high school, vocational school or some college, college degree or higher). In subjects aged 90 to 93 with a college degree or higher, the suggested MMSE cutoff score is ,25 (sensitivity=0.82, specificity=0.80). In those aged 94 to 96 with a college degree or higher, the suggested cutoff is ,24 (sensitivity=0.85, specificity=0.80). Those aged 97 and older with an education of high school or less had the lowest suggested cutoff ,22 (sensitivity=0.80, specificity=0.76). CONCLUSION: Overall, the MMSE had good sensitivity and specificity across all age and educational groups. Optimal cutoff points were lower in the older age groups and those with less education, primarily to preserve specificity. This screening instrument is appropriate for use with the oldest-old. [source] The combined neuroprotective effects of lidocaine and dexmedetomidine after transient forebrain ischemia in ratsACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 9 2009T. GOYAGI Background: We investigated whether coadministration of lidocaine and dexmedetomidine would reduce brain injury following transient forebrain ischemia in rats to a greater extent than either drug alone. Methods: Adult male Sprague,Dawleyrats were anesthetized with halothane to maintain normocapnia and normoxia. Rats received subcutaneous injection of saline 1 ml/kg, lidocaine 10 mg/kg, dexmedetomidine 3 ,g/kg, or lidocaine 10 mg/kg plus dexmedetomidine 3 ,g/kg. Thirty minutes after the drug injection, forebrain ischemia was induced by hemorrhagic hypotension and occlusion of the bilateral carotid arteries, and was confirmed by isoelectric EEG. At the end of 10-min ischemia, rats were reperfused. The same dose of drugs was administered 3, 24, and 48 h after ischemia. Neurological examination was done at 1, 2, and 7 days after ischemia. Seven days after ischemia, the brain was stained with hematoxylin and eosin. We counted ischemic cells in the CA1 hippocampal region, striatum, and cerebral cortex. We also measured extracellular glutamate and norepinephrine concentration in hippocampal CA1 in the four groups. Results: As compared with saline-treated rats, rats receiving dexmedetomidine plus lidocaine showed less than neurological deficit scores at 2 and 7 days after ischemia, and had less ischemic cells in the CA1 region. However, administration of dexmedetomidine plus lidocaine did not alter the area under the glutamate concentration curve and norepinephrine concentration during ischemia in the CA1 region, compared with saline-treated rats. Conclusions: Our results suggest coadministration of lidocaine and dexmedetomidine improves the neurological outcome without alteration of glutamate and norepinephrine concentrations during forebrain ischemia in rats. [source] Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 84JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2003V Donadio The aim of the study is to determine the site of autonomic lesion in a patient with Holmes-Adie Syndrome (HAS) who subsequently developed generalized anhydrosis. We describe a 38-year-old woman who from age 33 showed a right pupil larger than the left and from age 34 complained of focal and, a year later, generalized anhydrosis. Neurological examination showed absent tendon reflexes and right mydriatic pupil. Brain MRI, EEG, motor and sensory conduction studies were normal. Serologic screening for autoimmune disease was negative. To determine the site of the autonomic lesion the patient underwent the following investigations: pupillary tests with a diluted solution of pilocarpine (0.062%) and adrenaline (0.1%); cardiovascular reflexes; thermoregulatory sweat test (TST); circadian rhythm of body core temperature (CRT°); sympathetic skin response (SSR); microneurography recording of skin sympathetic activity (SSA) from median and peroneal nerves, and muscle sympathetic activity (MSA) from peroneal nerve; skin biopsy to evaluated the eccrine glands. Pupillary tests showed postganglionic parasympathetic and sympathetic denervation only of the right pupil. TST showed complete anhydrosis, SSR and SSA were absent and skin biopsy revealed normal morphology of the eccrine glands with hypotrophy of their structures. These results indicated a lesion of the postganglionic skin sympathetic fibers. Mechanisms for heat loss and conservation, cardiovascular reflexes and MSA were normal excluding a hypothalamic dysfunction or a more diffuse involvement of the autonomic nervous system. In conclusion, our patient showed a HAS associated with generalized anhydrosis and the autonomic investigations suggested underlying postganglionic parasympathetic and sympathetic autonomic lesions. [source] AUTOMIC FAILURE AND NORMAL PRESSURE HYDROCEPHALUS IN A PATIENT WITH CHRONIC DEMYELINATING INFLAMMATORY NEUROPATHYJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2002M. Laurà A 75-year-old man with HCV hepatitis developed at the age of 70 presented with rest and action tremor localized at both hands and progressive cognitive impairment with memory loss. Four years later he begun to complain of progressive fatigue, occasional falls, numbness at the extremities and orthostatic hypotension. One month after admission, he rapidly worsened with inability to walk, mainly because of autonomic failure. Neurological examination revealed gait disturbances, including a wide base of support and short stride, slurred speech, reduction of upward gaze, rest and action tremor at both hands, intrinsic hand muscle and anterior tibialis muscle wasting and weakness on both sides, absent deep tendon reflexes, loss of vibration sense at lower limbs, and bilateral pes cavus. Routine laboratory studies, autoantibodies, thyroid function, neoplastic markers and immunoelectrophoresis were normal. Cryoglobulins were absent, whereas CSF protein content was increased (142 mg/dl). Autonomic nervous system investigation detected severe orthostatic hypotension. Nerve conduction studies showed absent sensory potentials and a marked reduction of compound motor action potential amplitudes and of motor conduction velocities. A sural nerve biopsy revealed remarkable onion bulb-like changes, endoneurial and perivascular infiltrations of inflammatory cells. Psychometric tests showed mild cognitive impairment. Brain MRI was consistent with normotensive hydrocephalus. The findings indicated the presence of chronic inflammatory demyelinating polyneuropathy, autonomic nervous system involvement and normal pressure hydrocephalus. A condition of multiple system atrophy (MSA) might be taken into account, even if somatic peripheral nerve involvement may rarely occur in MSA. Moreover the normal pressure hydrocephalus could be due to the high protein content in CSF (Fukatsu R et al., 1997). [source] Neuropathy Associated With Anti-Chondroitin Sulfate C IgM AntibodiesJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2001B Bossi Chondroitin Sulfate C (ChS-C), is a glycosaminoglycan present in the membranes of neurons and axons. Anti-ChS-C IgM antibodies have been reported in patients with predominantly sensory neuropathy (PN) often associated with IgM monoclonal gammopathy, but also in some neurological controls. In order to evaluate the frequency and clinical correlate of anti-ChS-C IgM antibodies, we tested them by a new Covalink ELISA technique in sera from 206 patients with IgM monoclonal gammopathy including 79 with PN (PN+IgM) with unknown IgM reactivity, 65 with PN with antibodies to the myelin-associated glycoprotein and 62 without PN, and from 33 patients with PN of other causes, 30 with other neurological and non-neurological diseases and 23 normal subjects. We only found high titers of anti-ChS-C IgM in two patients (1/128,000 and 1/256,000 respectively) with IgM monoclonal gammopathy: one had Waldenström Macroglobulinemia diagnosed seven years before and a 3 year history of slowly progressive limb weakness, finger paresthesias, unsteady gait and occasional nocturnal cramps. Neurological examination revealed a predominantly large-fiber sensory neuropathy with mild distal atrophy and weakness in upper and lower limbs. Electrophysiological and morphological studies were suggestive of a predominantly demyelinating neuropathy. The other patient had IgM MGUS without PN at the time of antibody testing but developed finger paresthesias seven years later, when he had decreased position sense and abnormal sensory nerve conduction studies. In conclusion high titers of anti-ChS-C IgM, though infrequent, were always associated with the presence or development of sensory PN in patients with IgM M-protein, supporting a possible role for these antibodies in the neuropathy. [source] Nigrostriatal dysfunction in homozygous and heterozygous parkin gene carriers: An 18F-dopa PET progression study,MOVEMENT DISORDERS, Issue 15 2009Nicola Pavese MD Abstract Little is known about the rate of progression of striatal dysfunction in subjects with parkin -linked parkinsonism. Being a heterozygous parkin gene carrier may confer susceptibility to Parkinson's disease (PD). In a previous 18F-dopa PET study, we reported that 69% of carriers of a single parkin mutation showed subclinical loss of putamen dopaminergic function. Using serial 18F-dopa PET, the present longitudinal study addresses rates of progression of nigrostriatal dysfunction in both compound heterozygous (parkin -linked parkinsonism) and single heterozygous parkin gene carriers. Three symptomatic patients who were compound heterozygotes for parkin gene mutations and six asymptomatic heterozygous carriers were clinically assessed and had 18F-dopa PET at baseline and again after 5 years. The patients with symptomatic parkin showed a mean 0.5% annual reduction in putamen 18F-dopa uptake over 5 years while caudate 18F-dopa uptake declined by a mean annual rate of 2 %. The asymptomatic heterozygote gene carriers showed a mean 0.56% annual reduction in putamen and 0.62 % annual reduction in caudate 18F-dopa uptake. Neurological examination at both baseline and follow-up showed no evidence of parkinsonism. Loss of nigrostriatal dysfunction in parkin -linked parkinsonism occurs at a very slow rate compared to the 9,12% annual loss of putamen 18F-dopa uptake reported for idiopathic PD. Although subclinical reductions of striatal 18F-dopa uptake are common in carriers of a single parkin mutation their slow rate of progression suggests that few if any of these will develop clinical parkinsonism. © 2009 Movement Disorder Society [source] A novel movement disorder of the lower lip,MOVEMENT DISORDERS, Issue 6 2004Kleopas A. Kleopa MD Abstract Four patients, aged 25 to 42 years presented with acute onset of a movement disorder characterized by a tonic, sustained, lateral and outward protrusion of one half of the lower lip. The movement disorder was present at rest, while in some patients, it was also present during speech. In all cases, the abnormal lip posture could be suppressed voluntarily. Neurological examination was otherwise normal. Extensive laboratory investigation failed to reveal any causative factors for secondary focal dystonia. Treatment with oral medications and botulinum toxin was mostly ineffective. Spontaneous remissions were frequent. © 2003 Movement Disorder Society [source] Severe generalized dystonia due to primary putaminal degeneration: Case report and review of the literature,MOVEMENT DISORDERS, Issue 3 2002Ruth H. Walker MB Abstract Putaminal lesions of a variety of etiologies may cause secondary dystonia. We report on a case of primary putaminal degeneration as a cause of severe childhood-onset generalized dystonia and review the literature of the pathology of dystonia. A 44-year-old patient with severe generalized childhood-onset dystonia and macrocephaly underwent neurological evaluation and neuropathological examination. Neurological examination was normal apart from dystonia and signs referable to prior cryothalamotomy. Workup for metabolic and genetic causes of dystonia was negative. Neuroimaging showed severe bilateral putaminal degeneration, which subsequently correlated with the neuropathological findings of gliosis, spongiform degeneration, and cavitation. The substantia nigra pars compacta contained a normal number of neurons but decreased tyrosine hydroxylase immunoreactivity. There were no histopathological markers of other metabolic or degenerative diseases. © 2002 Movement Disorder Society. [source] Prognostication after cardiac arrest and hypothermia: A prospective studyANNALS OF NEUROLOGY, Issue 3 2010Andrea O. Rossetti MD Objective Current American Academy of Neurology (AAN) guidelines for outcome prediction in comatose survivors of cardiac arrest (CA) have been validated before the therapeutic hypothermia era (TH). We undertook this study to verify the prognostic value of clinical and electrophysiological variables in the TH setting. Methods A total of 111 consecutive comatose survivors of CA treated with TH were prospectively studied over a 3-year period. Neurological examination, electroencephalography (EEG), and somatosensory evoked potentials (SSEP) were performed immediately after TH, at normothermia and off sedation. Neurological recovery was assessed at 3 to 6 months, using Cerebral Performance Categories (CPC). Results Three clinical variables, assessed within 72 hours after CA, showed higher false-positive mortality predictions as compared with the AAN guidelines: incomplete brainstem reflexes recovery (4% vs 0%), myoclonus (7% vs 0%), and absent motor response to pain (24% vs 0%). Furthermore, unreactive EEG background was incompatible with good long-term neurological recovery (CPC 1,2) and strongly associated with in-hospital mortality (adjusted odds ratio for death, 15.4; 95% confidence interval, 3.3,71.9). The presence of at least 2 independent predictors out of 4 (incomplete brainstem reflexes, myoclonus, unreactive EEG, and absent cortical SSEP) accurately predicted poor long-term neurological recovery (positive predictive value = 1.00); EEG reactivity significantly improved the prognostication. Interpretation Our data show that TH may modify outcome prediction after CA, implying that some clinical features should be interpreted with more caution in this setting as compared with the AAN guidelines. EEG background reactivity is useful in determining the prognosis after CA treated with TH. ANN NEUROL 2010;67:301,307 [source] Long-term course and mutational spectrum of spatacsin -linked spastic paraplegiaANNALS OF NEUROLOGY, Issue 6 2007Ute Hehr MD Objective Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of neurodegenerative disorders resulting in progressive spasticity of the lower limbs. One form of autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) was linked to chromosomal region 15q13-21 (SPG11) and associated with mutations in the spatacsin gene. We assessed the long-term course and the mutational spectrum of spatacsin -associated ARHSP with TCC. Methods Neurological examination, cerebral magnetic resonance imaging (MRI), 18fluorodeoxyglucose positron emission tomography (PET), nerve biopsy, linkage and mutation analysis are presented. Results Spastic paraplegia in patients with spatacsin mutations (n = 20) developed during the second decade of life. The Spastic Paraplegia Rating Scale (SPRS) showed severely compromised walking between the second and third decades of life (mean SPRS score, >30). Impaired cognitive function was associated with severe atrophy of the frontoparietal cortex, TCC, and bilateral periventricular white matter lesions. Progressive cortical and thalamic hypometabolism in the 18fluorodeoxyglucose PET was observed. Sural nerve biopsy showed a loss of unmyelinated nerve fibers and accumulation of intraaxonal pleomorphic membranous material. Mutational analysis of spatacsin demonstrated six novel and one previously reported frameshift mutation and two novel nonsense mutations. Furthermore, we report the first two splice mutations to be associated with SPG11. Interpretation We demonstrate that not only frameshift and nonsense mutations but also splice mutations result in SPG11. Mutations are distributed throughout the spatacsin gene and emerge as major cause for ARHSP with TCC associated with severe motor and cognitive impairment. The clinical phenotype and the ultrastructural analysis suggest a disturbed axonal transport of long projecting neurons. Ann Neurol 2007 [source] Antemortem diagnosis of canine neural angiostrongylosis using ELISAAUSTRALIAN VETERINARY JOURNAL, Issue 3 2003J LUNN A 5-month-old female Kelpie developed paraparesis, hind limb ataxia and spinal hyperaesthesia 4 days after ovariohysterectomy. Neurological examination demonstrated upper motor neuron signs in the pelvic limbs with lower motor neuron signs in the tail. Cerebrospinal fluid analysis demonstrated an increased protein concentration and marked eosinophilic pleocytosis. The dog was known to have eaten rats, snails and slugs. A tentative diagnosis of neural angiostrongylosis was made and later confirmed using an ELISA based on soluble antigens obtained from larval 4 Angiostrongylus cantonensis. Antibody titres from the patient's serum and CSF were 800 and 6400, respectively. The dog was treated successfully with prednisolone. ELISA testing of serum may provide a non-invasive means for diagnosing neural angiostrongylosis in dogs. [source] Idiopathic acquired generalized anhidrosis due to occlusion of proximal coiled ductsBRITISH JOURNAL OF DERMATOLOGY, Issue 3 2004J. Ogino Summary Idiopathic acquired generalized anhidrosis is a very rare disease of unknown pathogenesis. We report a 25-year-old man with acquired generalized anhidrosis due to occlusion of the coiled ducts. He did not have sweat secretion over the entire surface of the body, including the palms and soles. Sweat-inducing stimuli provoked tingling pain on the skin. Pilocarpine iontophoresis on the forearm did not induce sweat secretion. Neurological examination did not reveal any abnormality in the central or peripheral nervous system. Skin biopsy showed that the coiled ducts were occluded by an amorphous eosinophilic substance. This amorphous eosinophilic substance was positive with periodic acid,Schiff (PAS) staining and was resistant to digestion by diastase. Electron microscopy demonstrated that the coiled ducts were completely occluded by an amorphous substance. The substance occluding the coiled ducts contained fibrous structures. These findings suggested that the acquired generalized anhidrosis in this patient was caused by occlusion of the coiled ducts by a PAS-positive substance probably derived from dark cell granules. [source] Neurological examination of cortical function deficitsACTA NEUROLOGICA SCANDINAVICA, Issue 2009O. B. Tysnes Human cortical functions have been elucidated by studies of deficits in traumatic and vascular brain damage, outcomes after elective neurosurgical procedures, studies in primates and in more recent years by imaging techniques. Cortical functions are well-defined for primary cortical areas like motor, sensory and visual functions. More complex cortical functions like language and to some degree memory are also well clarified. The associative cortical areas are more difficult to study as functions are integrated to and modulate primary cortical functions. Nevertheless, the structural basis for symptoms like neglect, apraxia and agnosia has been well established. Recent data from functional imaging indicate that large and diverse areas of the cerebral cortex are involved in planning motor tasks or coding (memory). This review focuses on the clinical neurological evaluation of cortical function deficits. [source] Early prediction of neurological outcome by term neurological examination and cranial ultrasound in very preterm infantsACTA PAEDIATRICA, Issue 3 2009P Amess Abstract Aim: To assess the value of term neurological examination and cranial ultrasound in the early prediction of neurological outcome at 12 months corrected age in a cohort of very preterm infants. Methods: A cohort of 102 preterm infants born at <32 weeks gestation or with a birth weight of <1500 g were assessed using the Hammersmith Term Neurological Examination. They underwent cranial ultrasound examinations according to local guidelines. The Hammersmith Infant Neurological Examination was performed at 12 months corrected age. Scores for the term examinations were compared with scores derived from healthy infants born at term and with scores from low-risk preterm infants at term equivalent age. Term neurological scores and cranial ultrasound findings were compared in the prediction of 12-month neurological outcome. Results: Seventy-eight (76.5%) preterm infants had suboptimal total neurological scores at term when compared to healthy infants born at term. However, most went on to have optimal neurological scores at 12 months corrected age. When our cohort was compared with low-risk preterm infants at term equivalent age only 14 (13.7%) scored outside the normal range. Neither system of scoring predicted neurological outcome at 12 months corrected age as reliably as cranial ultrasound (sensitivity 0.83, specificity 0.87). Conclusion: Neurological examination of preterm babies at term may be unreliable in the prediction of neurological outcome at 12 months corrected age. For early prediction of neurological outcome cranial ultrasound examination was found to be more reliable. [source] Non-progressive congenital ataxia with cerebellar hypoplasia in three familiesACTA PAEDIATRICA, Issue 2 2005Z Yapici Abstract Aim: Non-progressive ataxias with cerebellar hypoplasia are a rarely seen heterogeneous group of hereditary cerebellar ataxias. Method: Three sib pairs from three different families with this entity have been reviewed, and differential diagnosis has been discussed. Results: In two of the families, the parents were consanguineous. Walking was delayed in all the children. Truncal and extremity ataxia were then noticed. Ataxia was severe in one child, moderate in two children, and mild in the remaining three. Neurological examination revealed horizontal, horizonto-rotatory and/or vertical nystagmus, variable degrees of mental retardation, and pyramidal signs besides truncal and extremity ataxia. In all the cases, cerebellar hemisphere and vermis hypoplasia were detected in MRI. During the follow-up period, a gradual clinical improvement was achieved in all the children. Conclusion: Inheritance should be considered as autosomal recessive in some of the non-progressive ataxic syndromes. Congenital non-progressive ataxias are still being investigated due to the rarity of large pedigrees for genetic studies. If further information on the aetiopathogenesis and clinical progression of childhood ataxias associated with cerebellar hypoplasia is to be acquired, a combined evaluation of metabolic screening, long-term follow-up and radiological analyses is essential. [source] Movement-Induced Focal Motor Seizures and Choreoathetosis As- sociated with Nonketotic Hyperglycemia: A Case ReportEPILEPSIA, Issue 2000Hisashi Tanaka Case Report: We report the case of a diabetic woman who developed right-sided reflex seizures and bilateral choreoathetosis during an episode of nonketotic hyperglycemia. The patient was a 67-year-old woman with a 14-year history of HCV-related liver cirrhosis who experienced polydipsia and polyuria in January 1998. She began to have episodes of abnormal hyperkinetic movements of the right upper extremity and tonic-clonic seizures in the right arm triggered by voluntary movements of right or bilateral arms in the beginning of March 1998. The seizures increased in frequency and consequently left her disabled. She was admitted to our hospital with complaints of these abnormal motor phenomena on March 9, 1998. Neurological examinations revealed that she was alert, well-oriented, and that cranial nerve functions were normal. Slight motor weakness of the right upper limb and deep tendon hyporeflexes were observed in all extremities. Sensations and cerebellar functions were intact. Choreic or athetotic involuntary movements were seen in the bilateral upper limbs and neck. These involuntary movements were increased by voluntary movement or posturing of the upper limbs. The focal tonic-clonic seizures were easily triggered by voluntary movements such as knotting a cord. This seizure suddenly began by tonic movements in the right upper limb and gradually progressed to the right hemi-face and neck without loss of consciousness. The average duration of seizures was about one minute. The laboratory data demonstrated mild leukocytopenia, thrombocytopenia, hepatic dysfunction, and hyperglycemia without ketosis. Fasting blood glucose was 41 I mg/dl, and HbAlc was 14.5%. Blood ammonia was within normal levels. Cranial CT revealed no abnormalities. Brain MRI on T I-weighted images demonstrated bilateral high signal intensity in the putamen. An interictal EEG revealed a symmetrical slow background activity of 7,8 Hz. An ictal EEG recording showed a 2.5 4 Hz irregular sharp and slow wave discharge in the bilateral frontal-central regions. Treatment with carbamazepine was ineffective for the seizures. However, the seizures completely disappeared after the administration of insulin on March 17. Under good control of the hyperglycemia, the abnormal involuntary movements decreased gradually and then completely disappeared; the patient became neurologically asymptomatic by March 30. The follow-tip EEG demonstrated 9-Hz alpha background activity without any epileptic discharges. Conclusions: Nonketotic hyperglycemia has been rarely reported to cause stimulus-induced seizures or hyperkinetic involuntary movements such as hemichorea-ballism. To our knowledge, this is the first reported case of both induced seizures and involuntary movements simultaneously caused by hyperglycemia. Movement-induced seizures and choreoathetoid movements in this patient can be considered to result from transiently-increased activity in the basal ganglia and/or cerebral cortex associated with metaholic disorders. [source] Predicting neurodevelopmental impairment in preterm infants by standardized neurological assessments at 6 and 12 months corrected ageACTA PAEDIATRICA, Issue 4 2010I Grimmer Abstract Aim:, Neurodevelopmental impairment in very preterm infants can be reasonably diagnosed by 18,24 months corrected age, whereas the predictive value of earlier assessments is debated. We hypothesized that neurological findings at 6 and 12 months indicative of subsequent cerebral palsy predict 18,24 months' neurodevelopmental impairment. Methods:, Neurodevelopmental examinations (Griffiths scales) at 20 months of age in 561 preterm infants (birth weight <1 500 g) were compared with results of standardized neurological examinations (Early Motor Pattern Profile; EMPP) and Griffiths scales at 6 (n = 451) and 12 months (n = 496) corrected age. Results:, Griffiths developmental quotients at 20 months were weakly but significantly related to EMPP scores at 6 (Rs = 0.328) and 12 months (Rs = 0.493). Areas under receiver operator characteristic curves for the EMPP to predict neurodevelopmental impairment (Griffiths scores ,75) at 20 months were 0.772 (0.890) at 6 (12) months, compared to 0.915 (0.962) for Griffiths scores. By contrast, EMPP and Griffiths scores had equal power to predict unability to walk unaided at 2 years of age (EMPP 6/12 months: 0.946/0.983; Griffiths 6/12 months: 0.935/0.985). Conclusion:, Neurological examinations with the EMPP at 6 and 12 months corrected age are of limited value to predict neurodevelopmental impairment at 20 months. [source] Neurological recovery in obstetric brachial plexus injuries: an historical cohort studyDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 2 2004Agnes F Hoeksma MD An historical cohort study was conducted to investigate the rate and extent of neurological recovery in obstetric brachial plexus injury (OBPI) and to identify possible prognostic factors in a cohort of children with OBPI from birth to 7 years. All children (n=56; 31 females, 25 males) with OBPI were evaluated at fixed time intervals by one examiner. They underwent a final neurological examination at a mean age of 3 years 10 months (range 1 to 7 years). Neurological outcome was not as favourable as is often reported: complete neurological recovery occurred in 37 out of 56 children (66%). In half of these there was delayed recovery, in which case complete neurological recovery was assessed from 1.5 to 16 months of age (median age 6.5 months, SD 4.2 months). External rotation and supination were the last to recover and recovered the least. Although biceps function at three months was considered to be the best indicator for operative treatment, external rotation and supination were found to be better in predicting eventual complete recovery. Initial symptoms directly post partum were not found to be prognostic. Functional outcome was mainly reported to be good. [source] ,Head growth and cranial assessment at neurological examination in infancy'DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 6 2003Article first published online: 13 FEB 200 No abstract is available for this article. [source] Neuromotor development from 5 to 18 years.DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 7 2001Part 1: timed performance Timed performance in specific motor tasks is an essential component of a neurological examination applied to children with motor dysfunctions. This article provides centile curves describing normal developmental course and interindividual variation of timed performances of non-disabled children from 5 to 18 years. In a cross-sectional study (n=662) the following motor tasks were investigated: repetitive finger movements, hand and foot movements, alternating hand and foot movements, sequential finger movements, pegboard, and dynamic and static balance. Intraobserver, interobserver, and test-retest reliability for timed measurements were moderate to high. Timed performances improved throughout the entire prepubertal period, but differed among various motor tasks with respect to increase in speed and when the,adolescent plateau' was reached. Centile curves of timed performance displayed large interindividual variation for all motor tasks. At no age were clinically relevant sex differences noted, nor did socioeconomic status significantly correlate with timed performance. Our results demonstrate that timed motor performances between 5 and 18 years are characterized by a long-lasting developmental change and a large interindividual variation. Therefore, a well standardized test instrument, and age-specific standards for motor performances are necessary preconditions for a reliable assessment of motor competence in school-age children. [source] Neonatal cerebral ischaemia with elevated maternal and infant anticardiolipin antibodiesDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 6 2000Gabriel Chow MBBChir BSc DCH MRCPI MRCPCH A baby girl born by elective lower segment caesarean section was found to have left-sided focal seizures at 48 hours after birth. Her mother had previously had a neonatal death at 26 weeks' gestation and another child born at 32 weeks' gestation had a congenital right hemiplegia with a left middle cerebral artery infarct on CT scan. The mother had raised anticardiolipin IgG antibodies at the time of delivery of her second child, with no thrombotic symptoms. Therefore, during this pregnancy, she had been treated with low molecular weight heparin and aspirin. The baby's mother had raised IgG and IgM anticardiolipin antibodies and the baby had IgG anticardiolipin antibodies at the upper range of normal 4 days after delivery. The seizures were controlled with phenobarbitone and phenytoin. CT and MRI scans showed evidence of cerebral ischaemia. A repeat MRI scan at 4 months of age was normal, anticonvulsants were discontinued, and her latest neurological examination at 5 months was normal. [source] European comparison of costs and quality in the prevention of secondary complications in Type 2 diabetes mellitus (2000,2001)DIABETIC MEDICINE, Issue 7 2002A. Gandjour Abstract Aims To compare the out-patient costs and process quality of preventing secondary complications in patients with Type 2 diabetes mellitus in France, Germany, Italy, The Netherlands, Sweden, Switzerland, and the UK. Methods A total of 188 European physician practices assessed annual services for one hypothetical average patient (cost evaluation) and 178 practices reported retrospective data on one or two real patients (quality evaluation) in 2000/2001. In countries with a detailed fee-for-service schedule (Germany, Italy, and Switzerland) reimbursement fees were used to approximate costs. These fee-for-service schedules were also used to develop index (average) fees for all countries, in order to measure resource utilization. The following process quality indicators were evaluated: control of HbA1c; control of lipids; urine test for (micro)albuminuria; control of blood pressure; foot examination; neurological examination; eye examination; and patient education. For each country an average quality rating was calculated by weighting the response to each quality indicator with the level of scientific evidence. Results Average quality ratings ranged from 0.40 in The Netherlands to 0.62 in the UK (0 = lowest rating; 1 = highest rating). Total annual costs for secondary prevention were higher in Switzerland than in Germany and Italy (EUR475, EUR381, and EUR283, respectively). Resource utilization was highest in Germany and lowest in the UK. Conclusions The overall quality of preventive services documented was found to be poor in the seven European countries studied. The UK rated as both the most effective and the most efficient country in providing secondary prevention in Type 2 diabetes. 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