ANO10 mutations cause ataxia and coenzyme Q10 deficiency View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-09-03

AUTHORS

Andrea Balreira, Veronika Boczonadi, Emanuele Barca, Angela Pyle, Boglarka Bansagi, Marie Appleton, Claire Graham, Iain P. Hargreaves, Vedrana Milic Rasic, Hanns Lochmüller, Helen Griffin, Robert W. Taylor, Ali Naini, Patrick F. Chinnery, Michio Hirano, Catarina M. Quinzii, Rita Horvath

ABSTRACT

Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for patients with inherited ataxia. In two patients with adult-onset cerebellar ataxia and coenzyme Q10 (CoQ10) deficiency in muscle, whole exome sequencing revealed mutations in ANO10, which encodes anoctamin 10, a member of a family of putative calcium-activated chloride channels, and the causative gene for autosomal recessive spinocerebellar ataxia-10 (SCAR10). Both patients presented with slowly progressive ataxia and dysarthria leading to severe disability in the sixth decade. Epilepsy and learning difficulties were also present in one patient, while retinal degeneration and cataract were present in the other. The detection of mutations in ANO10 in our patients indicate that ANO10 defects cause secondary low CoQ10 and SCAR10 patients may benefit from CoQ10 supplementation. More... »

PAGES

2192-2198

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00415-014-7476-7

DOI

http://dx.doi.org/10.1007/s00415-014-7476-7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1008158610

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25182700


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24 schema:description Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for patients with inherited ataxia. In two patients with adult-onset cerebellar ataxia and coenzyme Q10 (CoQ10) deficiency in muscle, whole exome sequencing revealed mutations in ANO10, which encodes anoctamin 10, a member of a family of putative calcium-activated chloride channels, and the causative gene for autosomal recessive spinocerebellar ataxia-10 (SCAR10). Both patients presented with slowly progressive ataxia and dysarthria leading to severe disability in the sixth decade. Epilepsy and learning difficulties were also present in one patient, while retinal degeneration and cataract were present in the other. The detection of mutations in ANO10 in our patients indicate that ANO10 defects cause secondary low CoQ10 and SCAR10 patients may benefit from CoQ10 supplementation.
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32 ANO10 defects
33 ANO10 mutations
34 CoQ10
35 CoQ10 supplementation
36 Q10 (CoQ10) deficiency
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39 adults
40 advances
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62 difficulties
63 disability
64 disorders
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67 exome sequencing
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75 muscle
76 mutation detection
77 mutations
78 next-generation sequencing
79 patients
80 progressive ataxia
81 putative calcium-activated chloride channel
82 recent advances
83 recessive spinocerebellar ataxia-10
84 retinal degeneration
85 secondary low CoQ10
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