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16 Possible Causes for Mutation in the CHCHD10 Gene

  • Amyotrophic Lateral Sclerosis 8

    […] in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.[neuroscienze.unito.it] […] frontotemporal degeneration 16(1-2) 127-8 [ DOI PMID ] Johnson JO, Glynn SM, Gibbs JR, Nalls MA, Sabatelli M, Restagno G, Drory VE, Chio A, Rogaeva E, Traynor BJ. (2014) Mutations[neuroscienze.unito.it]

  • Amyotrophic Lateral Sclerosis 11

    […] in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.[neuroscienze.unito.it] […] frontotemporal degeneration 16(1-2) 127-8 [ DOI PMID ] Johnson JO, Glynn SM, Gibbs JR, Nalls MA, Sabatelli M, Restagno G, Drory VE, Chio A, Rogaeva E, Traynor BJ. (2014) Mutations[neuroscienze.unito.it]

  • Pallidopyramidal Syndrome

    Genetic Heterogeneity of Frontotemporal Dementia and/or Amyotrophic Lateral SclerosisSee also FTDALS2 ( OMIM ), caused by mutation in the CHCHD10 gene ( OMIM ) on chromosome[mendelian.co] 22q11; FTDALS3 ( OMIM ), caused by mutation in the SQSTM1 gene ( OMIM ) on chromosome 5q35; and FTDALS4 ( OMIM ), caused by mutation in the TBK1 gene ( OMIM ) on chromosome[mendelian.co]

  • Lyme Neuroborreliosis

    They zeroed in on a serine-59 to leucine mutation in the CHCHD10 , a gene on chromosome 22.[alzforum.org] They linked a clinical syndrome in two families believed to have ALS-FTD to a mutation in a nuclear gene encoding the mitochondrial protein CHCHD10, short for the repetitive[alzforum.org] Bannwarth and colleagues examined the CHCHD10 gene in 21 other ALS-FTD families, in which the diagnosis had been confirmed at autopsy.[alzforum.org]

  • Amyotrophic Lateral Sclerosis 1

    […] found via exome sequencing include: TBK1 , CCNF , GLE1 , MATR3 , and CHCHD10 [ PMID 27538057 ] Variants located in the low-complexity domains of the protein encoded by the[snpedia.com] AD FTDALS3 SQSTM1 AD Other genes associated with ALS1 are NEFH, PRPH, DCTN1.[mda.org] TIA1 gene, such as rs757332023 The sporadic (and more common) form of ALS is now somewhat associated with pathological changes in a protein known as TDP-43, and these changes[snpedia.com]

  • Amyotrophic Lateral Sclerosis

    […] found via exome sequencing include: TBK1 , CCNF , GLE1 , MATR3 , and CHCHD10 [ PMID 27538057 ] Variants located in the low-complexity domains of the protein encoded by the[snpedia.com] TIA1 gene, such as rs757332023 The sporadic (and more common) form of ALS is now somewhat associated with pathological changes in a protein known as TDP-43, and these changes[snpedia.com] […] to 3% of familial ALS , according to [ PMID 27455347 ] TUBA4A mutations lead to ALS apparently through destabilizing the microtubule network [ PMID 25374358 ] Other ALS mutations[snpedia.com]

  • Frontotemporal Dementia

    gene and two novel mutations in CHCHD10 gene (c.63C T, no AA change; c.71G A, P24L).[ncbi.nlm.nih.gov] WES also unraveled pathogenic mutations in genes not commonly linked to FTD, including mutations in Alzheimer (PSEN1, PSEN2), lysosomal (CTSF, 7-exon macro-deletion) and cholesterol[ncbi.nlm.nih.gov] BACKGROUND: Mutations in microtubule associated protein tau (MAPT), progranulin (GRN), chromosome 9 open-reading frame 72 (C9orf72) and CHCHD10 genes have been reported causing[ncbi.nlm.nih.gov]

  • Lower Motor Neuron Syndrome with Late-Adult Onset

    LOSMoN is primarily caused by the c.197G T p.G66V mutation in the gene CHCHD10 , represented by rs730880031 .[snpedia.com] , c.176C T p.S59L, in the CHCHD10 gene was reported with a different phenotype, frontotemporal dementia (FTD)/ALS with mitochondrial myopathy [ 5 ].[journals.plos.org] […] part these “myopathic” changes are likely to be adaptive or compensatory efforts by the myofibers, but in SBMA a primary myopathic component may also exist. [ 7 ] Another mutation[journals.plos.org]

  • Amyotrophic Lateral Sclerosis 4

    […] in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.[neuroscienze.unito.it] […] found via exome sequencing include: TBK1 , CCNF , GLE1 , MATR3 , and CHCHD10 [ PMID 27538057 ] Variants located in the low-complexity domains of the protein encoded by the[snpedia.com] […] frontotemporal degeneration 16(1-2) 127-8 [ DOI PMID ] Johnson JO, Glynn SM, Gibbs JR, Nalls MA, Sabatelli M, Restagno G, Drory VE, Chio A, Rogaeva E, Traynor BJ. (2014) Mutations[neuroscienze.unito.it]

  • Episodic Mitochondrial Myopathy - Optic Atrophy - Reversible Leukoencephalopathy

    Sequence analysis revealed a double-missense mutation (R15S and G58R) in cis in CHCHD10 which encodes a coiled coil-helix-coiled coil-helix protein of unknown function.[ncbi.nlm.nih.gov] […] candidate gene in our minimal candidate region.[ncbi.nlm.nih.gov] We found that the expression of the G58R, but not the R15S, mutation induced mitochondrial fragmentation.[ncbi.nlm.nih.gov]

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