Journal of neurology, neurosurgery, and psychiatry
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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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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Carotid sinus syndrome is common in dementia with Lewy bodies and correlates with deep white matter lesions.
Carotid sinus syndrome (CSS) is a common cause of syncope in older persons. There appears to be a high prevalence of carotid sinus hypersensitivity (CSH) in patients with dementia with Lewy bodies (DLB) but not in Alzheimer's disease. ⋯ Heart rate responses to CSM are prolonged in patients with DLB, causing hypotension. Deep white matter changes from microvascular disease correlated with the fall in SBP. Microvascular pathology is a key substrate of cognitive impairment and could be reversible in DLB where there are exaggerated heart rate responses to carotid sinus stimulation.
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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.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Retinal abnormalities in CADASIL: a retrospective study of 18 patients.
CADASIL is an inherited small vessel disease related to Notch3 gene mutations. ⋯ FE and FA revealed silent retinal abnormalities in CADASIL patients with nerve fibre loss in 22% and cotton wool spots in 17%. The presence of these abnormal retinal findings does not seem related to the severity of the disorder but may be considered as peripheral markers of this genetic disease.