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

Volumn 382, Issue 1-2, 2005, Pages 191-194

  Simon Sanchez, Javier ^a,b   Hanson, Melissa ^a   Singleton, Amanda ^c   Hernandez, Dena ^a   McInerney, Aideen ^d   Nussbaum, Robert ^d   Werner, John ^c   Gallardo, Marisol ^e   Weiser, Roberto ^e   Gwinn Hardy, Katrina ^c   Singleton, Andrew B ^a   Clarimon, Jordi ^a  

^a NATIONAL INSTITUTE ON AGING   (United States)

^b INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^e HOSPITAL UNIVERSITARIO DE CARACAS   (Venezuela)

Author keywords

Genetics; Parkinson's disease; Parkinsonism; SCA

Indexed keywords

ATAXIN 3; CYSTEINE PROTEINASE; LEVODOPA; SPINOCEREBELLAR ATAXIA 2 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLUM DISEASE; DEGENERATIVE DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; MINIMAL BRAIN DYSFUNCTION; PARKINSON DISEASE; PARKINSONISM; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; AGED; AGED, 80 AND OVER; DNA; FEMALE; HUMANS; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PARKINSON DISEASE; PEDIGREE; REPETITIVE SEQUENCES, NUCLEIC ACID; REPRESSOR PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TREMOR;

EID: 21144433087     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2005.03.015     Document Type: Article

References (10)

1. S. Furtado, M. Farrer, Y. Tsuboi, M.L. Klimek, R. de la Fuente-Fernandez, J. Hussey, P. Lockhart, D.B. Calne, O. Suchowersky, A.J. Stoessl, and Z.K. Wszolek SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings Neurology 59 2002 1625 1627
2. T. Gasser Genetics of Parkinson's disease J. Neurol. 248 2001 833 840
3. K. Gwinn-Hardy, J.Y. Chen, H.C. Liu, T.Y. Liu, M. Boss, W. Seltzer, A. Adam, A. Singleton, W. Koroshetz, C. Waters, J. Hardy, and M. Farrer Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese Neurology 55 2000 800 805
4. K. Gwinn-Hardy, A. Singleton, P. O'Suilleabhain, M. Boss, D. Nicholl, A. Adam, J. Hussey, P. Critchley, J. Hardy, and M. Farrer Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family Arch. Neurol. 58 2001 296 299
5. A.J. Hughes, S.E. Daniel, L. Kilford, and A.J. Lees Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases J. Neurol. Neurosurg. Psychiatry 55 1992 181 184
6. H. Payami, S. Bernard, K. Larsen, J. Kaye, and J. Nutt Genetic anticipation in Parkinson's disease Neurology 45 1995 135 138
7. M. Ragothaman, N. Sarangmath, S. Chaudhary, V. Khare, U. Mittal, S. Sharma, S. Komatireddy, S. Chakrabarti, M. Mukerji, R.C. Juyal, B.K. Thelma, and U.B. Muthane Complex phenotypes in an Indian family with homozygous SCA2 mutations Ann. Neurol. 55 2004 130 133
8. D.E. Shan, B.W. Soong, C.M. Sun, S.J. Lee, K.K. Liao, and R.S. Liu Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism Ann. Neurol. 50 2001 812 815
9. B. Tang, C. Liu, L. Shen, H. Dai, Q. Pan, L. Jing, S. Ouyang, and J. Xia Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds Arch. Neurol. 57 2000 540 544
10. A. Wilkins, J.M. Brown, and R.A. Barker SCA2 presenting as levodopa-responsive parkinsonism in a young patient from the United Kingdom: a case report Mov. Disord. 19 2004 593 595