Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
نویسندگان
چکیده
1 Neuroscience Research Australia, Sydney, NSW, Australia 2 School of Medical Sciences, University of New South Wales, Sydney, NSW, Australia 3 Schizophrenia Research Institute, Sydney, NSW, Australia 4 Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia 5 School of Public Health, University of Sydney, Sydney, NSW, Australia 6 Centre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, NSW, Australia 7 Neuropsychiatric Institute, Prince of Wales Hospital, Sydney, NSW, Australia
منابع مشابه
Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
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Mutation screening and phenotypic profiling of 2 amyotrophic lateral sclerosis-(ALS) and frontotemporal dementia-(FTD) associated genes, CHCHD10 and TUBA4A, were performed in a Belgian cohort of 459 FTD, 28 FTD-ALS, and 429 ALS patients. In CHCHD10, we identified a novel nonsense mutation (p.Gln108*) in a patient with atypical clinical FTD and pathology-confirmed Parkinson's disease (1/459, 0.2...
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CHCHD10-related diseases include mitochondrial DNA instability disorder, frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) clinical spectrum, late-onset spinal motor neuropathy (SMAJ), and Charcot-Marie-Tooth disease type 2 (CMT2). Here, we show that CHCHD10 resides with mitofilin, CHCHD3 and CHCHD6 within the "mitochondrial contact site and cristae organizing system" (MICOS) comp...
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OBJECTIVE We describe the phenotype consistent with axonal Charcot-Marie-Tooth disease type 2 (CMT2) in 4 families with a c.197G>T (p.(Gly66Val)) variant in CHCHD10. METHODS We sequenced the CHCHD10 gene in a cohort of 107 families with CMT2 of unknown etiology. The patients were characterized by clinical examination and electroneuromyography. Muscle MRI and biopsy of the muscle or nerve were...
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ورودعنوان ژورنال:
- Brain : a journal of neurology
دوره 138 Pt 10 شماره
صفحات -
تاریخ انتشار 2015