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Neurological Features (neurological + feature)
Selected AbstractsNeurological features in Gaucher's disease during enzyme replacement therapyACTA PAEDIATRICA, Issue 2 2001H Ono This report describes two patients with Gaucher's disease who had unusual clinical symptoms during enzyme replacement therapy. One patient was a female with type 3 Gaucher's disease. She developed a pericardial effusion at 7 y of age, which contained many Gaucher cells despite enzyme replacement therapy. She died from neurological deterioration during enzyme replacement therapy, despite an improvement in her visceral manifestations. The other patient is a male with type 2 Gaucher's disease, who has achieved long-term survival after being supported by mechanical ventilation and enzyme replacement therapy. While on enzyme replacement therapy at the age of 4y, he suffered a generalized cutaneous disease which was clinically diagnosed as ichthyosis. Conclusion: These cases suggest that ordinary enzyme replacement therapy is insufficient for some of the non-neurological manifestations of severe types of Gaucher's disease. [source] Frequency of social phobia and psychometric properties of the Liebowitz social anxiety scale in Parkinson's disease,MOVEMENT DISORDERS, Issue 12 2008Arthur Kummer MD Abstract There are few studies about social anxiety disorder in Parkinson's disease (PD). The objective of this study was to assess its frequency and to explore the psychometric properties of the Liebowitz social anxiety scale (LSAS) in PD. Ninety patients with PD underwent neurologic and psychiatric examination. Psychiatric examination was composed by a structured clinical interview (MINI-Plus) followed by the application of the LSAS, the Hamilton depression rating scale (Ham-D), and the Hamilton anxiety rating scale (Ham-A). Neurologic examination included the MMSE, the UPDRS, the Hoehn-Yahr Scale, and the Schwab-England scale of activities of daily living. Social phobia was diagnosed in 50% of PD patients. The disorder was not associated with any sociodemographic or neurological feature, but was associated to major depression (P = 0.023), generalized anxiety disorder (P = 0.023), and obsessive-compulsive disorder (P = 0.013). The score of LSAS correlated positively with the scores of Ham-D and Ham-A (P < 0.001 for both). A ROC curve analysis of the LSAS suggested that a cutoff score in 41/42 provided the best balance between sensitivity and specificity. This disorder seems to be more common and not just restricted to performance as previously thought. © 2008 Movement Disorder Society [source] Friedrich Nietzsche's mental illness , general paralysis of the insane vs. frontotemporal dementiaACTA PSYCHIATRICA SCANDINAVICA, Issue 6 2006M. Orth Objective:, For a long time it was thought that Nietzsche suffered from general paralysis of the insane (GPI). However, this diagnosis has been questioned recently, and alternative diagnoses have been proposed. Method:, We have charted Friedrich Nietzsche's final fatal illness, and viewed the differential diagnosis in the light of recent neurological understandings of dementia syndromes. Results:, It is unclear that Nietzsche ever had syphilis. He lacked progressive motor and other neurological features of a progressive syphilitic central nervous system (CNS) infection and lived at least 12 years following the onset of his CNS signs, which would be extremely rare for patients with untreated GPI. Finally, his flourish of productivity in 1888 would be quite uncharacteristic of GPI, but in keeping with reports of burgeoning creativity at some point in the progression of frontotemporal dementia (FTD). Conclusion:, We suggest that Nietzsche did not have GPI, but died from a chronic dementia, namely FTD. [source] A neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3)EUROPEAN JOURNAL OF NEUROLOGY, Issue 4 2008C. Kieling Spinocerebellar ataxias (SCAs) are characterized by a heterogeneous set of clinical manifestations. Our aims were to assess the neurological features of SCA3, and to describe and test the feasibility, reliability, and validity of a comprehensive Neurological Examination Score for Spinocerebellar Ataxia (NESSCA). The NESSCA was administered to molecularly diagnosed SCA3 patients at an outpatient neurogenetics clinic. The scale, based on the standardized neurological examination, consisted of 18 items that yielded a total score ranging from 0 to 40. The score's interrater reliability and internal consistency were investigated, and a principal components analysis and a correlation with external measures were performed. Ninety-nine individuals were evaluated. Interrater reliability ranged from 0.8 to 1 across individual items (P < 0.001); internal consistency, indicated by Cronbach's alpha, was 0.77. NESSCA scores were significantly correlated with measures of disease severity: disease stage (rho = 0.76, P < 0.001), duration (rho = 0.56, P < 0.001), and length of CAG repeat (rho = 0.30, P < 0.05). NESSCA was a reliable measure for the assessment of distinct neurological deficits in SCA3 patients. Global scores correlated with all external variables tested, showing NESSCA to be a comprehensive measure of disease severity that is both clinically useful and scientifically valid. [source] Variable phenotype of Alzheimer's disease with spastic paraparesisJOURNAL OF NEUROCHEMISTRY, Issue 3 2008Helena Karlstrom Abstract Pedigrees with familial Alzheimer's disease (AD) show considerable phenotypic variability. Spastic paraparesis (SP), or progressive spasticity of the lower limbs is frequently hereditary and exists either as uncomplicated (paraparesis alone) or complicated (paraparesis and other neurological features) disease subtypes. In some AD families, with presenilin-1 (PSEN1) mutations, affected individuals also have SP. These PSEN1 AD pedigrees frequently have a distinctive and variant neuropathology, namely large, non-cored plaques without neuritic dystrophy called cotton wool plaques (CWP). The PSEN1 AD mutations giving rise to CWP produce unusually high levels of the amyloid , peptide (A,) ending at position 42 or 43, and the main component of CWP is amino-terminally truncated forms of amyloid , peptide starting after the alternative ,-secretase cleavage site at position 11. This suggests a molecular basis for the formation of CWP and an association with both SP and AD. The SP phenotype in some PSEN1 AD pedigrees also appears to be associated with a delayed onset of dementia compared with affected individuals who present with dementia only, suggesting the existence of a protective factor in some individuals with SP. Variations in neuropathology and neurological symptoms in PSEN1 AD raise the prospect that modifier genes may underlie this phenotypic heterogeneity. [source] Cardiac involvement in infantile Sandhoff diseaseJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 1 2002P Venugopalan Abstract: An 18-month-old boy with enzyme assay-confirmed infantile Sandhoff disease (MIM 268800) is reported. Besides the classical neurological features, this patient exhibited severe mitral regurgitation secondary to mitral valve prolapse and mild aortic regurgitation from aortic valve prolapse. He also had asymmetric hypertrophy of the interventricular septum without left ventricular outflow tract obstruction. [source] Orthostatic tremor in progressive supranuclear palsyMOVEMENT DISORDERS, Issue 8 2007Rob M. A. de Bie MD Abstract Patients with orthostatic tremor (OT) can be classified as having "primary OT," with or without postural arm tremor but no other abnormal neurological features, or "OT plus." We describe a patient with OT, with postural tremor of the arms and restless legs syndrome (RLS), who developed features typical of progressive supranuclear palsy (PSP). PSP can be accompanied by OT. © 2007 Movement Disorder Society [source] Lesion of the dorsorostral midbrain sparing the nigrostriatal tract mimics axial rigidity seen in progressive supranuclear palsyMOVEMENT DISORDERS, Issue 8 2005Jan Lewerenz MD Abstract We report on a patient with a residual dorsorostral midbrain lesion after resection of a pineal gland tumor. In addition to severe vertical gaze palsy, this patient exhibited other neurological features closely resembling progressive supranuclear palsy. Normal dopamine transporter single-photon emission computed tomography imaging excluded significant dopamine deficiency. We suggest that dorsorostral midbrain pathology rather than dopamine deficiency due to degeneration of nigrostriatal dopaminergic neurons or basal ganglia nuclei might be responsible for axial rigidity in extension. © 2005 Movement Disorder Society [source] Bilaterally coherent tremor resembling enhanced physiological tremor: Report of three cases,MOVEMENT DISORDERS, Issue 2 2002John D. O'Sullivan MD Abstract The contribution of the central nervous system to tremor pathogenesis is unclear. Poor side-to-side coherence in physiological, essential, and parkinsonian tremors suggests distinct bilateral generators. By contrast, significant bilateral coherence demonstrated in orthostatic tremor and in enhanced physiological tremor (EPT) in patients with persistent mirror movements favours single or closely linked bilateral oscillators. We describe three patients (aged 21,37 years) who developed unusual bilateral postural and kinetic tremors at 6,13 Hz resembling EPT. The tremor involved all limbs, and in two cases the face or jaw, in the absence of other significant neurological features. Significant side-to-side coherence was demonstrated in each case using cross-correlation of electromyographic recordings from homologous muscle pairs. We postulate that these unusual tremors originate from a single brainstem source or from bilateral oscillators closely linked at or below this level. © 2002 Movement Disorder Society [source] Predicting motor recovery of the upper limb after stroke rehabilitation: value of a clinical examinationPHYSIOTHERAPY RESEARCH INTERNATIONAL, Issue 1 2000Hilde Feys Abstract Background and Purpose Only a few studies have been conducted to predict motor recovery of the arm after stroke. The aims of this study were to identify which clinical variables, assessed at different points in time, were predictive of motor recovery, and to construct useful regression equations. Method One hundred consecutive stroke patients who had an obvious motor deficit of the upper limb were evaluated on entry to the study (two to five weeks post-stroke) and at two, six and 12 months after stroke. The Brunnström,Fugl-Meyer test was used as the outcome measure. Predictors included demographic data, overall disability, clinical neurological features, neuropsychological factors and secondary shoulder complications. Results In multiple regression analyses, motor performance was invariably retained as the predictive factor with the highest R-square. Other significant predictive variables were overall disability, muscle tone, proprioception and hemi-inattention. Between 53% and 89% of the total amount of variance was accounted for in all selected models. The accuracy of prediction from clinical measurement in the acute phase diminished as the time span of measurement of outcome increased. Similarly, assessment of the variables at two and six months, rather than in the acute stage, resulted in a considerable improvement in the percentage variance explained at 12 months. The highest accuracy was obtained when predictions were made step-by-step in time. Conclusions It is possible to predict motor recovery of the upper limb accurately through the use of a few clinical measures. Predictive equations are proposed, the use of which are practicable in both clinical practice and research. Copyright © 2000 Whurr Publishers Ltd. [source] Etiologic yield of autistic spectrum disorders: A prospective studyAMERICAN JOURNAL OF MEDICAL GENETICS, Issue 1 2006Agatino Battaglia Abstract Studies addressing etiologic yield in childhood developmental disabilities have mainly looked at individuals with developmental delay/mental retardation. The few studies addressing the question of etiologic yield in patients with pervasive developmental disorders (PDDs) had a major drawback, in that the enrolled subjects were diagnosed as having the autistic spectrum disorders based only on history and clinical examination, and/or on unspecified instruments. In addition, only some of these patients underwent a complete laboratory evaluation. To investigate the etiologic yield of PDDs, we undertook a large prospective study on subjects selected according to very strict criteria and diagnosed as having PDD based on the present "gold standard" (ADI-R and ADOS-G), and a clinical diagnosis made by a child psychiatrist. Eighty-five (85) patients with PDD and their first degree relatives participated in this study. These patients were selected from a sample of 236 subjects who had received a clinical diagnosis of PDD at the Stella Maris Institute between March 2002 and 2005. Selection criteria for entering the study were: (1) a diagnosis of PDD (with exclusion of the Rett syndrome) confirmed after the administration of the ADI-R (autism diagnostic interview-revised) and the ADOS-G (autism diagnostic observation schedule-generic). In addition, a clinical diagnosis was made by the child psychiatrist, on the basis of presence or absence of DSM-IV symptoms of autism; (2) chronological age between 4 and 18 years; (3) IQ>30; (4) availability of both biologic parents. Patients, 65/85 (76.5%), had autism, 18/85 (21.2%) had PDD-NOS, and the remaining 2/85 (2.3%) had Asperger syndrome. Ages varied between 4 years 2 months and 12 years 5 months (mean 7.6 years), and there was a marked male preponderance (68/85). All subjects underwent various laboratory studies and neuroimaging. With respect to possible etiologic determination, a detailed history and physical examination in this group of patients with PDD was informative in 10.5% (9/85). HRB karyotype was diagnostic in one, and molecular fragile X studies in one child. Brain MRI was informative in two children (2.3%) with relative macrocrania but no neurological features; and EEG was helpful in one child, identifying a Landau,Kleffner disorder. Audiometry and brainstem auditory evoked potentials (BAEPs) showed a bilateral sensorineural loss in another child. Metabolic evaluation gave normal results in all subjects. The results suggest an evaluation paradigm with reference to etiologic determination for individuals with PDDs that does not presently justify metabolic or neuroimaging on a screening basis. Recurrence risk, treatment implications, and significant and long-lasting emotional relief for the parents suggest that serious consideration be given to clinical genetic examination, genetic testing, EEG study (during wakefulness and sleep), and audiometry, despite a relatively low yield. © 2006 Wiley-Liss, Inc. [source] Transient global amnesia following a transoceanic flightPSYCHIATRY AND CLINICAL NEUROSCIENCES, Issue 4 2006JAVAID RASHID md Abstract, Transient global amnesia (TGA) is the abrupt onset of temporary anterograde amnesia without any focal neurological features. It is a benign condition and is completely reversible in most cases. However, the sudden occurrence of memory impairment can be especially alarming to an individual who has recently arrived in an unfamiliar setting. The cause of TGA remains unknown. Reported here is the unusual occurrence of TGA in a man following the completion of an international airplane flight. Possible etiologies of the episode are considered. [source] Distinct clinical characteristics of Tuberous Sclerosis Complex patients with no mutation identifiedANNALS OF HUMAN GENETICS, Issue 2 2009S. E. Camposano Summary Tuberous Sclerosis Complex (TSC) is a multi-system disorder that is highly variable in its clinical presentation. Current molecular diagnostic methods permit identification of mutations in either TSC1 or TSC2 in 75,85% of TSC patients. Here we examine the clinical characteristics of those TSC patients who have no mutation identified (NMI). A retrospective review of our patient population that had comprehensive testing for mutations in TSC1/TSC2 identified 23/157 (15%) that were NMI. NMI patients had a lower incidence of brain findings on imaging studies, neurological features, and renal findings than those with TSC2 mutations. In contrast, NMI patients had a lower incidence of seizures than TSC patients with TSC1 mutations, but had a higher incidence of both renal angiomyolipomas and pulmonary lymphangioleiomyomatosis. This distinct constellation of findings suggest that NMI patients may have a unique molecular pathogenesis, different from that seen in TSC patients with the usual mutations in TSC1 and TSC2. We suggest that the mechanisms of disease in these patients include both mosaicism for a TSC2 mutation, and unusual non-coding region mutations in TSC2. [source] Lung disease in ataxia-telangiectasiaACTA PAEDIATRICA, Issue 7 2007L Bott Abstract Ataxia-telangiectasia (AT) is a multi-systemic disease caused by mutational inactivation of the ATM gene. We report a retrospective study of lung disease in 15 patients. Patients and methods: A diagnosis of AT was made if the patient met the following criteria: neurological features and at least one the following: oculo-cutaneous telangiectasia, elevated serum ,-feto-protein level. Results: Recurrent sino-pulmonary infections were usually present in 11 of the cases and occurred during the first 2 years of life. Other lung injuries noted were bronchiectasis, obstruction and restriction of the airways, fibrosis, pneumothorax and haemoptysis. Eleven children had immunodeficiencies. Discussion: Recurrent sino-pulmonary manifestations precede neurological complications, but the severity of neuro-degeneration and pulmonary disease were not correlated. Pulmonary status was a prognosis factor. Immunodeficiency was the main, but not the only, aetiology for lung disease in AT. Conclusion: There is little dispute over the role of ATM in lung and respiratory epithelium. To reduce the morbidity associated with AT, there needs to be greater awareness of respiratory complications. Early management and monitoring lung function is necessary to minimize lung damage. [source] | ||||||||||||||||||||||||||||