LRRK2 P755L variant in sporadic Parkinson’s disease
نویسندگان
چکیده
منابع مشابه
Sporadic Creutzfeldt-Jakob disease mimicking variant Creutzfeldt-Jakob disease.
BACKGROUND The determination of the form of prion disease and early diagnosis are important for prognostic, public health, and epidemiologic reasons. OBJECTIVE To describe a patient with sporadic Creutzfeldt-Jakob disease (sCJD) who had a clinical history and initial electroencephalogram and magnetic resonance imaging findings consistent with variant CJD (vCJD). RESULTS Results of a repeate...
متن کاملType and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*.
Hertie Institute of Clinical Brain Research, Department of Medical Genetics and Department of Neuroradiology, University of Tübingen, Tübingen, 4 Institute of Human Genetics, GSF National Research Institute, Neuherberg, Institute of Epidemiology, GSF-National Research Center for Environment and Health, Neuherberg, Department of Neurology, University of Munich, Munich, Germany, Department of Neu...
متن کاملAnalysis of Nigerians with Apparently Sporadic Parkinson Disease for Mutations in LRRK2, PRKN and ATXN3
Several genetic variations have been associated with Parkinson disease in different populations over the past few years. Although a considerable number of worldwide populations have been screened for these variants, results from Sub-Saharan populations are very scarce in the literature. In the present report we have screened a cohort of Parkinson disease patients (n = 57) and healthy controls (...
متن کاملPET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation.
Parkinson's disease may arise from multiple aetiologies, including genetic mutations that are for the most part uncommon. We describe here the positron emission tomography (PET) findings in clinically affected and asymptomatic, high-risk members of two autosomal dominantly inherited Parkinson's disease kindreds with recently described mutations at the PARK8 locus, in a novel gene encoding a leu...
متن کاملLRRK2 a pivotal player in mitochondrial dynamics and lysosomal clustering: highlights to sporadic Parkinson’s disease
Parkinson’s disease (PD) is the second most common progressive neurodegenerative disorder affecting more than 1% of the population over 65 years of age. Dominant mutations in the leucine-rich repeat kinase 2 (lrrk2) gene are found associated with both familial and sporadic cases and represent the most frequent genetic lesions associated with PD. Remarkably, lrrk2 mutations cause PD with age-rel...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2008
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-008-0336-5