Analysis of SCA-2 and SCA-3 repeats in Parkinsonism

Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease

Javier Simon-Sanchez, Melissa Hanson, Amanda Singleton, Dena Hernandez, Aideen McInerney, Robert Nussbaum, John S Werner, Marisol Gallardo, Roberto Weiser, Katrina Gwinn-Hardy, Andrew B. Singleton, Jordi Clarimon

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

The spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders linked to more than 20 genetic loci. Most often, these diseases are caused by expansion of triplet repeats encoding polyglutamine (polyQ) tracts. The phenotype is variable and can cause a disease that overlaps clinically with Parkinson's disease (PD). l-Dopa-responsive parkinsonism with minimal cerebellar deficits has been described in SCA2 and SCA3. In order to define if mutation at these loci is a common cause of clinically defined parkinsonism we typed the SCA-2 and SCA-3 repeats for expansion in a series of 280 patients diagnosed with PD or parkinsonism. We identified one pathogenic expansion in SCA-2 in a North American family with autosomal dominant parkinsonism.

Original languageEnglish (US)
Pages (from-to)191-194
Number of pages4
JournalNeuroscience Letters
Volume382
Issue number1-2
DOIs
StatePublished - Jul 1 2005
Externally publishedYes

Fingerprint

Machado-Joseph Disease
Spinocerebellar Ataxias
Parkinsonian Disorders
Parkinson Disease
Trinucleotide Repeats
Dihydroxyphenylalanine
Genetic Loci
Neurodegenerative Diseases
Phenotype
Mutation
Parkinson Disease, Familial, Type 1

Keywords

  • Genetics
  • Parkinson's disease
  • Parkinsonism
  • SCA

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Simon-Sanchez, J., Hanson, M., Singleton, A., Hernandez, D., McInerney, A., Nussbaum, R., ... Clarimon, J. (2005). Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neuroscience Letters, 382(1-2), 191-194. https://doi.org/10.1016/j.neulet.2005.03.015

Analysis of SCA-2 and SCA-3 repeats in Parkinsonism : Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. / Simon-Sanchez, Javier; Hanson, Melissa; Singleton, Amanda; Hernandez, Dena; McInerney, Aideen; Nussbaum, Robert; Werner, John S; Gallardo, Marisol; Weiser, Roberto; Gwinn-Hardy, Katrina; Singleton, Andrew B.; Clarimon, Jordi.

In: Neuroscience Letters, Vol. 382, No. 1-2, 01.07.2005, p. 191-194.

Research output: Contribution to journalArticle

Simon-Sanchez, J, Hanson, M, Singleton, A, Hernandez, D, McInerney, A, Nussbaum, R, Werner, JS, Gallardo, M, Weiser, R, Gwinn-Hardy, K, Singleton, AB & Clarimon, J 2005, 'Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease', Neuroscience Letters, vol. 382, no. 1-2, pp. 191-194. https://doi.org/10.1016/j.neulet.2005.03.015
Simon-Sanchez, Javier ; Hanson, Melissa ; Singleton, Amanda ; Hernandez, Dena ; McInerney, Aideen ; Nussbaum, Robert ; Werner, John S ; Gallardo, Marisol ; Weiser, Roberto ; Gwinn-Hardy, Katrina ; Singleton, Andrew B. ; Clarimon, Jordi. / Analysis of SCA-2 and SCA-3 repeats in Parkinsonism : Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. In: Neuroscience Letters. 2005 ; Vol. 382, No. 1-2. pp. 191-194.
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