Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Case ReportsAnti-Hu associated paraneoplastic sensory neuronopathy with upper motor neurone involvement.
Paraneoplastic neurological syndrome is characterised by neuronal degeneration with lymphocytic infiltration in various regions of the central and peripheral nervous systems. Motor neurone symptoms may occur as a remote effect of malignancy, and have been considered because of the involvement of lower motor neurones. A case is reported of an 80 year old woman suffering from paraneoplastic sensory neuronopathy with anti-Hu antibody. ⋯ Neuronal loss with lymphocytic infiltration was found in the dorsal root ganglia, brain stem, and cerebellum. Despite the absence of upper motor neurone signs, there was severe loss of Betz cells and degeneration of the bilateral pyramidal tracts. To our knowledge, this is the first demonstration of upper motor neurone involvement in anti-Hu associated paraneoplatic syndrome.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Association of IL-1 RN*2 allele and methionine synthase 2756 AA genotype with dementia severity of sporadic Alzheimer's disease.
Genetic polymorphisms of APO-E, homocysteine, and the IL-1 gene cluster (IL-1A, IL-1B, receptor antagonist IL-1RN) are associated with sporadic Alzheimer's disease and may involve interdependent pathways of neuronal toxicity. ⋯ Distinct determinants of the IL-1 gene cluster are related to the generation and progression of Alzheimer's disease. MTR only influences progression of the disease, which may be enhanced by carriage of allele epsilon4 of APO-E.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease.
To describe a novel missense mutation, Asp678Asn (D678N), in the amyloid precursor protein (APP) gene in a Japanese pedigree of probable familial Alzheimer's disease (FAD). ⋯ The production and accumulation of mutated Abeta (Asn7-Abeta) or the misfunction of D678N mutant APP may have pathogenic properties for the development of Alzheimer's disease in this pedigree.
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To investigate the underlying pathophysiology of primary lateral sclerosis (PLS) regarding possible changes in blink reflex (BR) circuit. ⋯ The study suggests that BR is abnormal in PLS. It also adds some clues regarding PLS pathophysiology and can be helpful as a marker of ALS progression.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Stops walking when talking as a predictor of falls in people with stroke living in the community.
To test "Stops walking when talking" (SWWT) as a predictor of falls among people with stroke living in the community. ⋯ The specificity of the SWWT test was lower but sensitivity was higher than previously reported. Although the SWWT test was easy to use, its clinical usefulness as a single indicator of fall risk in identifying those community dwelling people with stroke most at risk of falls and in need of therapeutic intervention is questionable.