Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*.
نویسندگان
چکیده
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 Neurology, Medical University of Vienna, Vienna, Austria and Department of Neurology, Mayo Clinic, Jacksonville, FL, USA
منابع مشابه
P 105: The Role of LRRK2 Inhibitors in Treatment of Parkinson’s Disease
Parkinson’s disease is the second most common age associated neuron degenerative disorder in developed societies. With the prevalence ranging from 41 per 100000 in the fourth decade of life to over 1900 per 100000 in people over 80 years of age.it characterized clinically by resting tremor, slowness of movement, rigidity and postural instability in the result of progressive loss of dopami...
متن کاملBiochemical and molecular features of LRRK2 and its pathophysiological roles in Parkinson's disease.
Parkinson's disease (PD) is the second most common neurodegenerative disease, and 5-10% of the PD cases are genetically inherited as familial PD (FPD). LRRK2 (leucine-rich repeat kinase 2) was first reported in 2004 as a gene corresponding to PARK8, an autosomal gene whose dominant mutations cause familial PD. LRRK2 contains both active kinase and GTPase domains as well as protein-protein inter...
متن کاملThe G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.
BACKGROUND Mutations in the gene Leucine-Rich Repeat Kinase 2 (LRRK2) were recently identified as the cause of PARK8 linked autosomal dominant Parkinson's disease. OBJECTIVE To study recurrent LRRK2 mutations in a large sample of patients from Italy, including early (<50 years) and late onset familial and sporadic Parkinson's disease. RESULTS Among 629 probands, 13 (2.1%) were heterozygous ...
متن کاملGenetic basis of Parkinson’s disease: inheritance, penetrance, and expression
Parkinson's disease can be caused by rare familial genetic mutations, but in most cases it is likely to result from an interaction between multiple genetic and environmental risk factors. Over recent years, many variants in a growing number of genes involved in the pathogenesis of Parkinson's disease have been identified. Mutations in several genes have been shown to cause familial parkinsonism...
متن کاملCellular processes associated with LRRK2 function and dysfunction
Mutations in the leucine-rich repeat kinase 2 (LRRK2)-encoding gene are the most common cause of monogenic Parkinson's disease. The identification of LRRK2 polymorphisms associated with increased risk for sporadic Parkinson's disease, as well as the observation that LRRK2-Parkinson's disease has a pathological phenotype that is almost indistinguishable from the sporadic form of disease, suggest...
متن کاملInhibitors of leucine-rich repeat kinase 2 (LRRK2): progress and promise for the treatment of Parkinson's disease.
Mutations in the gene for leucine-rich repeat kinase 2 (LRRK2) have been linked to several familial and sporadic late-onset cases of Parkinson's disease. The cumulative data for the effects of mutant forms of this enzyme on neuronal degradation and the pathophysiology of Parkinson's disease create a compelling case for drug discovery based on inhibition of the mutant forms of LRRK2. This review...
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ورودعنوان ژورنال:
- Brain : a journal of neurology
دوره 128 Pt 12 شماره
صفحات -
تاریخ انتشار 2005