Clinical Trial
doi: 10.1212/01.wnl.0000035625.19871.dc.
SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings
Affiliations
- PMID: 12451209
- DOI: 10.1212/01.wnl.0000035625.19871.dc
Item in Clipboard
Clinical Trial
SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings
Neurology.
.
Abstract
The authors describe an Alberta family with levodopa-responsive parkinsonism without cerebellar abnormalities. Genetic testing showed expanded repeats for SCA-2; other mutations for parkinsonism were excluded. The expanded allele shows interruption of the CAG repeat with CAA. PET in two affected members showed reduced fluorodopa uptake in striatum and normal raclopride binding. Families with autosomal dominant, levodopa-responsive parkinsonism should be tested for the SCA-2 mutation.
Similar articles
-
Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism.Arch Neurol. 2007 Oct;64(10):1510-8. doi: 10.1001/archneur.64.10.1510. Arch Neurol. 2007. PMID: 17923635
-
Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.Arch Neurol. 2004 Feb;61(2):209-12. doi: 10.1001/archneur.61.2.209. Arch Neurol. 2004. PMID: 14967767
-
Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease.Neurosci Lett. 2005 Jul 1-8;382(1-2):191-4. doi: 10.1016/j.neulet.2005.03.015. Epub 2005 Apr 1. Neurosci Lett. 2005. PMID: 15911147
-
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).Mov Disord. 2004 Jun;19(6):622-9. doi: 10.1002/mds.20074. Mov Disord. 2004. PMID: 15197699 Review.
-
Yet another spinocerebellar ataxia--will it ever end?Lancet Neurol. 2002 Dec;1(8):471. doi: 10.1016/s1474-4422(02)00234-x. Lancet Neurol. 2002. PMID: 12849326 Review. No abstract available.
Cited by
-
Reply to Comment on: "The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review".Mov Disord Clin Pract. 2020 Jan 13;7(2):239. doi: 10.1002/mdc3.12877. eCollection 2020 Feb. Mov Disord Clin Pract. 2020. PMID: 32071950 Free PMC article. No abstract available.
-
Evaluation of parkinsonism and striatal dopamine transporter loss in patients with spinocerebellar ataxia type 6.J Neurol. 2016 Nov;263(11):2302-2307. doi: 10.1007/s00415-016-8261-6. Epub 2016 Aug 20. J Neurol. 2016. PMID: 27544504
-
Topography of cerebral monoamine transporter availability in families with SCA2 mutations: a voxel-wise [123I]beta-CIT SPECT analysis.Eur J Nucl Med Mol Imaging. 2006 Sep;33(9):1084-90. doi: 10.1007/s00259-006-0104-8. Epub 2006 May 13. Eur J Nucl Med Mol Imaging. 2006. PMID: 16699769
-
Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review.Mov Disord Clin Pract. 2014 Jun 6;1(3):154-160. doi: 10.1002/mdc3.12042. eCollection 2014 Sep. Mov Disord Clin Pract. 2014. PMID: 30363920 Free PMC article. Review.
-
PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats.PLoS One. 2011 Mar 29;6(3):e17951. doi: 10.1371/journal.pone.0017951. PLoS One. 2011. PMID: 21479228 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Research Materials
