Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jul 2003
Case ReportsAutoantibodies to glutamic acid decarboxylase in downbeat nystagmus.
The cause of downbeat nystagmus (DBN) remains undiagnosed in about 40% of patients. This paper reports the presence of antiglutamic acid decarboxylase antibodies (GAD-Ab) in a patient with DBN. Antibodies against GABAergic neurons located in the vestibular complex may induce chemical denervation of the floccular neurons, which normally suppress the peripheral imbalance between vertical semicircular canal systems, thereby causing DBN. Testing for GAD-Ab may be indicated in DBN patients without an identifiable anatomical brain lesion.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2003
Prolonged survival in motor neuron disease: a descriptive study of the King's database 1990-2002.
Motor neuron disease is a clinically heterogeneous disease with significant differences in survival. The authors have characterised a subset of long term survivors seen in a tertiary clinic over a 12 year period in terms of clinical variables and demographics, comparing them with short term survivors and the remaining population. ⋯ Significantly younger onset of disease symptoms and a predominance of pure upper motor neuron signs at presentation characterised the long term survivors, but factors traditionally regarded as being associated with poor prognosis were also well represented. For a few people with motor neuron disease there remains the hope, whatever the initial presentation, that their subsequent survival will be longer than expected.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2003
Case ReportsCognitive presentation of multiple sclerosis: evidence for a cortical variant.
Although neuropsychiatric complications are well recognised, the presentation of multiple sclerosis with cognitive or neuropsychiatric symptoms has generally been considered a rare occurrence and to reflect subcortical pathology. ⋯ On clinical, pathological, and radiological grounds, the neuropsychiatric presentation of multiple sclerosis may represent a clinicopathological entity of "cortical multiple sclerosis." Failure to recognise this will delay diagnosis and may expose patients to potentially dangerous and invasive investigation. Because the neuropsychiatric features of cortical multiple sclerosis are a major cause of handicap, their early recognition may be particularly important in view of emerging treatments.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2003
Apolipoprotein E genotypes and clinical outcome in Guillain-Barré syndrome.
Polymorphism of the gene encoding the cholesterol transport protein apolipoprotein E (APOE, gene; apoE, protein), known to be involved in axonal regeneration and remyelination, influences outcome after a variety of central nervous system disorders. Apolipoprotein E gene polymorphisms could affect recovery from Guillain-Barré syndrome. ⋯ APOE genotype did not influence susceptibility to Guillain-Barré syndrome or recovery from it. This may be because our sample size of 91 was not sufficiently large to detect small differences in recovery associated with different APOE genotypes, or because cholesterol transportation is not a crucial rate limiting step in peripheral nerve regeneration.