Funding agencies: National Institute of Mental Health (NIMH) (K08MH86297 to B.L.F.) and the UCLA Program in Neurogenetics (to D.H.G.).
Version of Record online: 27 JAN 2012
Copyright © 2012 Movement Disorder Society
Volume 27, Issue 3, pages 442–446, March 2012
How to Cite
Fogel, B. L., Lee, J. Y., Lane, J., Wahnich, A., Chan, S., Huang, A., Osborn, G. E., Klein, E., Mamah, C., Perlman, S., Geschwind, D. H. and Coppola, G. (2012), Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. Mov. Disord., 27: 442–446. doi: 10.1002/mds.24064
Relevant conflicts of interest/financial disclosures: Nothing to report.
Full financial disclosures and author roles may be found in the online version of this article.
- Issue online: 12 MAR 2012
- Version of Record online: 27 JAN 2012
- Manuscript Accepted: 14 NOV 2011
- Manuscript Revised: 11 NOV 2011
- Manuscript Received: 12 SEP 2011
- National Institute of Mental Health (NIMH). Grant Number: K08MH86297
- cerebellar ataxia;
- copy number variation;
- dominant genetic conditions;
- recessive genetic conditions;
- spinocerebellar ataxia
Sporadic-onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia.
Patients with adult-onset sporadic ataxia, who tested negative for common genetic ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and/or Friedreich ataxia), were evaluated using a stratified screening approach for variants in 7 rare ataxia genes.
We screened patients for published mutations in SYNE1 (n = 80) and TGM6 (n = 118), copy number variations in LMNB1 (n = 40) and SETX (n = 11), sequence variants in SACS (n = 39) and PDYN (n = 119), and the pentanucleotide insertion of spinocerebellar ataxia type 31 (n = 101). Overall, we identified 1 patient with a LMNB1 duplication, 1 patient with a PDYN variant, and 1 compound SACS heterozygote, including a novel variant.
The rare genetic ataxias examined here do not significantly contribute to sporadic cerebellar ataxia in our tertiary care population. © 2012 Movement Disorder Society