Case Reports
doi: 10.1212/01.wnl.0000113719.67643.b7.
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency
Affiliations
- PMID: 15007142
- DOI: 10.1212/01.wnl.0000113719.67643.b7
Item in Clipboard
Case Reports
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency
Neurology.
.
Abstract
Two brothers had late-onset progressive ataxia, cerebellar atrophy, and hypergonadotropic hypogonadism associated with coenzyme Q10 (CoQ10) deficiency in skeletal muscle. Both patients improved on high-dose CoQ10 supplementation, stressing the importance of CoQ10 deficiency in the differential diagnosis of cerebellar ataxia, even when onset is late.
Similar articles
-
CoQ10 deficiency diseases in adults.Mitochondrion. 2007 Jun;7 Suppl(Suppl):S122-6. doi: 10.1016/j.mito.2007.03.004. Epub 2007 Mar 27. Mitochondrion. 2007. PMID: 17485248 Free PMC article. Review.
-
Cerebellar ataxia and coenzyme Q10 deficiency.Neurology. 2003 Apr 8;60(7):1206-8. doi: 10.1212/01.wnl.0000055089.39373.fc. Neurology. 2003. PMID: 12682339
-
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.Hum Mutat. 2018 Jan;39(1):69-79. doi: 10.1002/humu.23345. Epub 2017 Nov 8. Hum Mutat. 2018. PMID: 29044765 Free PMC article.
-
Primary coenzyme Q10 deficiency and the brain.Biofactors. 2003;18(1-4):145-52. doi: 10.1002/biof.5520180217. Biofactors. 2003. PMID: 14695930
-
[Coenzyme Q10 deficiency].Nihon Rinsho. 2002 Apr;60 Suppl 4:462-5. Nihon Rinsho. 2002. PMID: 12013914 Review. Japanese. No abstract available.
Cited by
-
Endocrine manifestations related to inherited metabolic diseases in adults.Orphanet J Rare Dis. 2012 Jan 28;7:11. doi: 10.1186/1750-1172-7-11. Orphanet J Rare Dis. 2012. PMID: 22284844 Free PMC article. Review.
-
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.Am J Hum Genet. 2006 Feb;78(2):345-9. doi: 10.1086/500092. Epub 2005 Dec 22. Am J Hum Genet. 2006. PMID: 16400613 Free PMC article.
-
Mitochondrial disease and endocrine dysfunction.Nat Rev Endocrinol. 2017 Feb;13(2):92-104. doi: 10.1038/nrendo.2016.151. Epub 2016 Oct 7. Nat Rev Endocrinol. 2017. PMID: 27716753 Review.
-
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).J Inherit Metab Dis. 2012 Jul;35(4):679-87. doi: 10.1007/s10545-011-9434-1. Epub 2012 Jan 10. J Inherit Metab Dis. 2012. PMID: 22231380 Review.
-
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.Arch Neurol. 2012 Aug;69(8):978-83. doi: 10.1001/archneurol.2012.206. Arch Neurol. 2012. PMID: 22490322 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
