Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val

Acta Neurologica Scandinavica

Volumn 133, Issue 5, 2016, Pages 361-366

  Pasanen, P ^a   Myllykangas, L ^b   Poyhonen M ^c   Kiuru Enari, S ^c   Tienari, P J ^b,c   Laaksovirta, H ^b,c   Toppila, J ^c   Ylikallio, E ^b   Tyynismaa, H ^b   Auranen, M ^b,c  

^a UNIVERSITY OF TURKU   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

CHCHD10; Clinical variability; Proximal sensorimotor neuropathy; Spinal muscular atrophy

Indexed keywords

ADULT; AGED; ARTICLE; CHCHD 10 GENE; CLINICAL ARTICLE; DNA DETERMINATION; FINN (CITIZEN); GENE; GENE MUTATION; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; MIDDLE AGED; MOTOR NEURON DISEASE; NEUROPHYSIOLOGY; ONSET AGE; PHENOTYPE; SENSORIMOTOR NEUROPATHY; SEQUENCE ANALYSIS; SPINAL MUSCULAR ATROPHY; VERY ELDERLY; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GENETICS; MALE; MISSENSE MUTATION; PEDIGREE;

CHCHD10 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE;

EID: 84962031518     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/ane.12470     Document Type: Article

References (23)

1. Bannwarth S, Ait-El-Mkadem S, Chaussenot A et al. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain 2014;137:2329-45.
2. Johnson JO, Glynn SM, Gibbs JR et al. Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. Brain 2014;137:e311.
3. Müller K, Andersen PM, Hübers A et al. Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. Brain 2014;137:e309.
4. Kurzwelly D, Krüger S, Biskup S, Heneka MT. A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation. Brain 2015;doi:10.1093/brain/awv014. In Press.
5. Zhang M, Xi Z, Zinman L et al. Mutation analysis of CHCHD10 in different neurodegenerative diseases. Brain 2015;doi:10.1093/brain/awv082. In Press.
6. Chaussenot A, Le Ber I, Ait-El-Mkadem S et al. Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients. Neurobiol Aging 2014;35:2884.e1-4.
7. Chiò A, Mora G, Sabatelli M et al. CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients. Neurobiol Aging 2015;36:1767.e3-6.
8. Ronchi D, Riboldi G, Del BoR et al. CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis. Brain 2015;138: e372.
9. Dobson-Stone C, Shaw AD, Hallupp M et al. Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis? Brain 2015; doi:10.1093/brain/awv115. In Press.
10. Bannwarth S, Ait-El-Mkadem S, Chaussenot A et al. Reply: is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis? Brain 2015;doi:10.1093/brain/awv116. In Press.
11. Ajroud-Driss S, Fecto F, Ajroud K et al. Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy. Neurogenetics 2015;16:1-9.
12. Penttilä S, Jokela M, Bouquin H, Saukkonen AM, Toivanen J, Udd B. Late-Onset spinal motor neuronopathy is caused by mutation in CHCHD10. Ann Neurol 2015;77: 163-72.
13. Jokela M, Penttilä S, Huovinen S et al. Late-onset lower motor neuronopathy: a new autosomal dominant disorder. Neurology 2011;77:334-40.
14. Penttilä S, Jokela M, Hackman P, Maija Saukkonen A, Toivanen J, Udd B. Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2. Eur J Hum Genet 2012;20:1193-6.
15. Auranen M, Ylikallio E, Shcherbii M et al. CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease. Neurol Genet 2015;1:e1.
16. Ylikallio E, Johari M, Konovalova S et al. Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1. Eur J Hum Genet 2014;22:522-7.
17. Chung KW, Kim SB, Park KD et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 2006;129:2103-18.
18. Züchner S, Mersiyanova IV, Muglia M et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004;36:449-51.
19. Zhu D, Kennerson ML, Walizada G, Züchner S, Vance JM, Nicholson GA. Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. Neurology 2005;65:496-7.
20. Züchner S, De Jonghe P, Jordanova A et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 2006;59:276-81.
21. Rouzier C, Bannwarth S, Chaussenot A et al. The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. Brain 2012;135:23-34.
22. Vielhaber S, Debska-Vielhaber G, Peeva V et al. Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion. Acta Neuropathol 2013;125:245-56.
23. Lee S, Sterky FH, Mourier A et al. Mitofusin 2 is necessary for striatal axonal projections of midbrain dopamine neurons. Hum Mol Genet 2012;21:4827-35.