Glucocerebrosidase mutations in diffuse Lewy body disease
نویسندگان
چکیده
منابع مشابه
[Diffuse Lewy body disease].
Diffuse Lewy body disease (DLBD) has been studied from various viewpoints and, although clinical diagnostic criteria for DLBD have been proposed, diagnosis remains difficult. DLBD has been reported to be the second most common form of dementia in the aged, following Alzheimer-type dementia. It has, however, been clinically under-diagnosed. Therefore, the search for diagnostic markers for DLBD m...
متن کاملGlucocerebrosidase gene mutations: a risk factor for Lewy body disorders.
BACKGROUND Mutations in the glucocerebrosidase (GBA) gene have been reported to modify risk for Parkinson disease (PD) and dementia with Lewy bodies (DLB). However, these findings have not been consistently replicated, and most studies have had substantial methodological shortcomings. OBJECTIVE To better assess the role of GBA variants in altering risk for Lewy body disorders. DESIGN Case-c...
متن کاملGlucocerebrosidase Mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease
Lewy body disease (LBD) development is enhanced by mutations in the GBA gene coding for glucocerebrosidase (GCase). The mechanism of this association is thought to involve an abnormal lysosomal system and we therefore sought to evaluate if lysosomal changes contribute to the pathogenesis of idiopathic LBD. Analysis of post-mortem frontal cortex tissue from 7 GBA mutation carriers with LBD, 5 GB...
متن کاملDiffuse Lewy body disease: an autopsy case.
A 67-year-old male patient initially showed memory disturbance followed by tremors a year later. The symptoms rapidly aggravated to dementia and Parkinsonian symptoms, and the patient died 2 years and 6 months after the onset at the age of 69 years and 5 months. Autopsy revealed numerous senile plaques in the cerebral cortex and Alzheimer's neurofibrillary tangles in the inferior temporal lobe ...
متن کاملRapidly progressive diffuse Lewy body disease.
BACKGROUND Lewy body syndromes (mainly Parkinson's disease and dementia with Lewy bodies) share many clinical features and usually have a slowly progressive course. Some patients may show rapid symptoms progression. OBJECTIVE To evaluate clinical and neuropathological features of patients with a rapidly progressive diffuse Lewy Body disease. METHODS Review clinical records and pathological ...
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ژورنال
عنوان ژورنال: Parkinsonism & Related Disorders
سال: 2011
ISSN: 1353-8020
DOI: 10.1016/j.parkreldis.2010.09.009