Journal
JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume 238, Issue 1-2, Pages 41-45Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2005.06.006
Keywords
ataxia; late-onset; spinocerebellar; idiopathic; genetic
Categories
Funding
- NIDCD NIH HHS [P50 DC 05224] Funding Source: Medline
Ask authors/readers for more resources
Late onset cerebellar ataxia can be caused by several genetic mutations but a large percentage of patients remain undiagnosed. Thirty-eight patients with onset of slowly progressive, pure cerebellar ataxia >= 40 years-of-age were identified from a large ataxia database. Their clinical findings and quantitative oculomotor tests were reviewed; all were screened for SCA1, SCA2, SCA3, SCA6, SCA8, SCA14, and the Fragile X premutation (FMR1). All 47 exons of CACNA1A were screened for mutations. Genetic analysis uncovered a mutation in I I patients. The SCA6 mutation was present in 8 patients (repeats 22-23). Three additional genetic mutations were found: SCA1 (42 repeats), SCA3 (66 repeats), and SCA8 (121 repeats). Patients without identified genetic mutations were characterized by 1) a later age of onset, 2) truncal without extremity ataxia, 3) and down beat nystagmus. Although only a third of these idiopathic late onset ataxia patients had a positive family history, this homogeneous syndrome probably represents a yet to be identified genetic disorder. (c) 2005 Elsevier B.V All rights reserved.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available