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Gait Ataxia (gait + ataxia)
Selected Abstracts"Whippets"-Induced Cobalamin Deficiency Manifesting as Cervical MyelopathyJOURNAL OF NEUROIMAGING, Issue 3 2004Alan L. Diamond ABSTRACT Background. Nitrous oxide (N O) is inhaled in anesthesia and as a recreational drug from whipped cream dispensers. Its abuse reaches ,10% in some age groups. By inactivating cobalamin (Cbl) (vitamin B12), N O can cause neurologic and hematologic manifestations. We present a case of N O-induced Cbl deficiency presenting as cervical myelopathy. Case History. After regularly inhaling N O for many months, a 31-year-old man developed limb paresthesiae and ataxia over 3 months. Examination revealed finger pseudoathetosis, hyporeflexia, decreased sensation, and gait ataxia. Brain magnetic resonance imaging (MRI) was normal, but the posterior columns of the cervical and upper thoracic cord revealed patchy nonenhancing hyperintense lesions. Serum Cbl was 98 pg/mL (normal = 170,900 pg/mL). Cbl replacement led to recovery within 3 months.Discussion. This patient presented with the symptoms and signs of Cbl deficiency. The MRI lesions in the posterior columns aided the diagnosis. Physicians need to have a high level of suspicion in cases of unexplained Cbl deficiency and myelopathy. [source] Phenotype variability in spinocerebellar ataxia type 2: A longitudinal family survey and a case featuring an unusual benign course of disease,,MOVEMENT DISORDERS, Issue 5 2009Sascha Hering MD Abstract We report a 67 years old female patient out of a multigenerational family with spinocerebellar ataxia type 2 (SCA2) with an unusually benign course of disease. Although all SCA2 gene carriers have by now developed the predominant gait ataxia and brainstem oculomotor dysfunction, the index patient presented with a very mild course of disease, scoring only six points on the Scale for the Assessment and Rating of Ataxia after a disease duration of 13 years. Otherwise, intragenerational variability within family members such as the age at onset of disease and the course of disease was low. Reinvestigation of the genetic background variables in the SCA2 gene carrier reported here showed 27 repeats in the normal allele and 37 noninterrupted repeats in the abnormal allele. Interestingly, this patient has been taking lithium-carbonate over more than 30 years because of psychotic depression. Although anecdotic, this SCA2 case may provide promising insights into possible disease modifying mechanisms in SCA2. © 2009 Movement Disorder Society [source] Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German familyMOVEMENT DISORDERS, Issue 2 2007Dagmar Nolte PhD Abstract We describe a novel mutation in the gene coding for protein kinase C gamma (PRKCG) in patients of a German family affected with slowly progressive gait ataxia, dysarthria, and nystagmus. The G/T missense mutation occurred in exon 2 of PRKCG and results in a substitution of glycine by valine (G63V) in the evolutionarily highly conserved cysteine-rich region 1/C1 domain of PRKCG. Among the 20 mutations described to date, this is the first mutation located in exon 2 of PRKCG. © 2006 Movement Disorder Society [source] Non-movement disorder heralds symptoms of Machado-Joseph disease years before ataxiaMOVEMENT DISORDERS, Issue 6 2005Anelyssa D'Abreu MD Abstract We describe three patients with the Machado-Joseph disease (MJD) genetic abnormality who had non-movement disorder neurological symptoms or signs that preceded the gait ataxia by several years. This implies that some clinical manifestations other than ataxia may be considered part of the herald symptoms of MJD, especially in the setting of a positive family history. © 2005 Movement Disorder Society [source] Screen for expanded FMR1 alleles in patients with essential tremorMOVEMENT DISORDERS, Issue 8 2004Dolores Garcia Arocena MS Abstract Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder, was described recently among male carriers of expanded alleles (55,200 CGG repeats; premutation range) of the fragile X mental retardation 1 (FMR1) gene. Major features of the syndrome include intention tremor, gait ataxia, and parkinsonism in men over 50 years of age. This disorder is believed to be relatively common, possibly affecting 1 in 3,000 men over the age of 50 years in the general population. This raises the possibility that some patients presenting with essential tremor (ET) may harbor expanded FMR1 alleles. We screened 81 ET patients (40 males, 41 females) for expanded FMR1 alleles to determine whether ET is associated with such alleles. None of the ET cases had the premutation genotype. CGG repeat sizes ranged from 5 to 47 repeats within this study population, suggesting that expanded FMR1 alleles are uncommon among patients with ET. Screening of movement disorder patients with other clinical features of FXTAS (e.g., ataxia and parkinsonism) may be more likely to yield expanded FMR1 alleles. © 2004 Movement Disorder Society [source] Increased asymmetric pulvinar magnetic resonance imaging signals in Creutzfeldt,Jakob disease with florid plaques following a cadaveric dura mater graftNEUROPATHOLOGY, Issue 1 2006Yoshinobu Wakisaka A 9-year-old Japanese girl received a cadaveric dura mater graft during surgery following a head injury with brain contusion. She continued to do well, but when she became 19-years-old, she gradually showed a violent character and was treated in a psychiatric hospital. Another 6 years later, 200 months after the procedure, she developed a progressive gait ataxia, which subsequently led to her death within 10 months of onset. An autopsy showed she had CJD. This patient represents an atypical case of dura-associated CJD (dCJD) with unusual clinicopathological features including the late occurrence of myoclonus, an absence of periodic synchronous discharges in the electroencephalogram, and the presence of widespread florid plaques. However, our detection of an asymmetrical increase in the MRI-derived images of pulvinar nuclei has not been previously observed in other atypical cases of dCJD. Because atypical dCJD cases share several clinicopathological features with those of vCJD, and because asymmetrical hyperintense signals in the pulvinar have been observed in some neuropathologically confirmed vCJD cases, we had some difficulty in a differential diagnosis between atypical dCJD and vCJD. This is the first atypical dCJD case showing a pulvinar high signal compared with all other basal ganglia on MRI. [source] Abnormal vestibular responses to vertical head motion in cerebellar ataxiaANNALS OF NEUROLOGY, Issue 2 2008Ke Liao MS Falls pose an important problem to neurologists caring for patients with cerebellar disorders. Normal human gait is characterized by prominent up-and-down linear head movements (vertical translations). Thus, we asked whether patients with cerebellar gait ataxia showed abnormal responses of otolithic vestibuloocular reflexes to this motion. Compared with healthy subjects, all cerebellar patients showed impaired otolith-ocular responses. Neurologists often test the rotational vestibuloocular reflexes in cerebellar patients, but our results indicate that vestibular responses to vertical linear motion are severely affected. Impairment of the corresponding otolith-spinal reflexes may contribute substantially to falls. Ann Neurol 2008 [source] Clinical manifestation of focal cerebellar disease as related to the organization of neural pathwaysACTA NEUROLOGICA SCANDINAVICA, Issue 2008E. Dietrichs Neural pathways connect different parts of the cerebellum to different parts of the central nervous system. The cerebellum may be divided anatomically and functionally into three major regions. The cerebellar hemispheres and a small part of the posterior lobe vermis form the pontocerebellum, which receives inputs from the cerebral cortex via the pontine nuclei. The anterior lobe and most of the posterior lobe vermis make up the spinocerebellum, which receives afferents from the spinal cord. The nodulus and flocculus are connected with the vestibular nuclei and constitute the vestibulocerebellum. Most cases of cerebellar disease affect more than one region and different pathways. Hence, they cause generalized cerebellar symptoms dominated by impaired motor control and balance. Focal syndromes after restricted cerebellar lesions are rare. Isolated spinocerebellar affection may give gait ataxia. Vestibulocerebellar disease causes equilibrium disturbances with truncal ataxia and nystagmus. Pontocerebellar lesions typically give ipsilateral limb ataxia, but also dysartria and oculomotor dysfunction if vermal parts are involved. The clinical picture is in most cases of cerebellar disease dominated by motor disturbances, but the cerebellum also participates in the modulation of autonomic and affective responses and in cognitive functions. The cerebrocerebellar and hypothalamocerebellar circuits may be important for these tasks. [source] | ||||||||||