Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

نویسندگان

  • Carol Dobson-Stone
  • Alex D Shaw
  • Marianne Hallupp
  • Lauren Bartley
  • Heather McCann
  • William S Brooks
  • Clement T Loy
  • Peter R Schofield
  • Karen A Mather
  • Nicole A Kochan
  • Perminder S Sachdev
  • Glenda M Halliday
  • Olivier Piguet
  • John R Hodges
  • John B J Kwok
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

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Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

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Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity

Although multiple CHCHD10 mutations are associated with the spectrum of familial and sporadic frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) diseases, neither the normal function of endogenous CHCHD10 nor its role in the pathological milieu (that is, TDP-43 pathology) of FTD/ALS have been investigated. In this study, we made a series of observations utilizing Caenorhabditis ele...

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Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

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 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

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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CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease

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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عنوان ژورنال:
  • Brain : a journal of neurology

دوره 138 Pt 10  شماره 

صفحات  -

تاریخ انتشار 2015