GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneCHCHD10
Other namesFTDALS2; N27C7-4; C22orf16
Gene namecoiled-coil-helix-coiled-coil-helix domain containing 10
Gene inheritanceFALS genes
Discovery methodNGS
Category 
Chromosome22q11.23
GRCh37 (hg19)Chr22:24108021-24110141(-)
GRCh38 (hg38)Chr22:23765834-23768438(-)
Background 
ResultMutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2.
Mutations5
Patients13
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
112765815613

BIOINFORMATICS

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ANIMAL MODELS

                               

KEY PUBLICATIONS (7)

First_AuthorYearTitlePaper
Select  Full_Paper
Bannwarth2014A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvementFull_Paper
Chaussenot2014Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patientsFull_Paper
Johnson2014Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosisFull_Paper
Muller2014Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron diseaseFull_Paper
Ronchi2015CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosisFull_Paper
van Rheenen2014Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?Full_Paper