6533b830fe1ef96bd1297a22
RESEARCH PRODUCT
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients
A ChiòG MoraM SabatelliC CaponnettoB. J TraynorJ. O JohnsonM. A NallsA CalvoC MogliaG BorgheroM. R MonsurròV La BellaP VolantiI SimoneF SalviF. O LogulloR NiloS BattistiniJ MandrioliR TanelM. R MurruP MandichM ZollinoF. L ConfortiM BrunettiM BarberisG RestagnoS PencoC LunettaF GianniniC RicciG MancardiI BartolomeiM CorboA ConteM LuigettiS LattanteG MarangiI OssolaG LogroscinoG TedeschiM PugliattiG. L PinterS GlynnJ. R GibbsS CammarosanoA CanosaU ManeraD BertuzzoA IlardiK MarinouR SideriF PisanoR SpataroT CollettiG FlorisA CannasV PirasF MarrosuM. G MarrosuL. D ParishA TiccaA PirisiE OrtuT. B CauD LoiS TraccisN FiniE GeorgoulopoulouF CasaleG MarraliG FudaP SolamoneE MaestriR MazzeiV CristilloR PudduE CostantinoC PaniC CareddaP OrigoneL MoscaM CapassoM TurriA PetrucciL TremolizzoM. Santarellisubject
MaleAgingPediatricsmedicine.medical_specialtyPathologyAmyotrophic lateral sclerosis; CHCHD10; Familial; Sporadic; Aged; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Frontotemporal Dementia; Genetic Predisposition to Disease; Humans; Italy; Male; Middle Aged; Mitochondrial Proteins; Genetic Association Studies; MutationGenetic Association StudieDiseaseSettore MED/03 - GENETICA MEDICAmedicine.disease_causeCohort StudiesMitochondrial ProteinsExonFamilialmental disordersmedicineHumansMitochondrial ProteinDementiaGenetic Predisposition to DiseaseAmyotrophic lateral sclerosisAmyotrophic lateral sclerosis; CHCHD10; Familial; Sporadic; Aged; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Frontotemporal Dementia; Genetic Predisposition to Disease; Humans; Italy; Male; Middle Aged; Mitochondrial Proteins; Genetic Association Studies; Mutation; Neurology (clinical); Neuroscience (all); Aging; Developmental Biology; Geriatrics and GerontologyGenetic Association StudiesAmyotrophic lateral sclerosiAgedMutationNeuroscience (all)business.industryGeneral NeuroscienceMiddle AgedAmyotrophic lateral sclerosisSporadicmedicine.disease3. Good healthAmyotrophic lateral sclerosis; CHCHD10; Familial; SporadicCHCHD10ItalyFrontotemporal DementiaMutationCohortFemaleNeurology (clinical)Cohort StudieGeriatrics and GerontologybusinessHumanDevelopmental BiologyFrontotemporal dementiaCohort studydescription
Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) comorbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency and clinical characteristics of CHCHD10 mutations in Italian patients diagnosed with familial (n= 64) and apparently sporadic ALS (n= 224). Three apparently sporadic patients were found to carry c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of CHCHD10. This mutation had been previously described in 2 unrelated French patients with FTD-ALS. However, our patients had a typical ALS, without evidence of FTD, cerebellar or extrapyramidal signs, or sensorineural deficits. We confirm that CHCHD10 mutations account for ~1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2015-04-01 | Neurobiology of Aging |