Title |
Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report
|
---|---|
Published in |
BMC Neurology, October 2011
|
DOI | 10.1186/1471-2377-11-131 |
Pubmed ID | |
Authors |
Conceição Bettencourt, Cristina Santos, Paula Coutinho, Patrizia Rizzu, João Vasconcelos, Teresa Kay, Teresa Cymbron, Mafalda Raposo, Peter Heutink, Manuela Lima |
Abstract |
Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene. This disease presents clinical heterogeneity, which cannot be completely explained by the size of the repeat tract. MJD presents extrapyramidal motor signs, namely parkinsonism, more frequently than the other subtypes of autosomal dominant cerebellar ataxias. Although parkinsonism seems to segregate within MJD families, only a few MJD patients develop parkinsonian features and, therefore, the clinical and genetic aspects of these rare presentations remain poorly investigated. The main goal of this work was to describe two MJD patients displaying the parkinsonian triad (tremor, bradykinesia and rigidity), namely on what concerns genetic variation in Parkinson's disease (PD) associated loci (PARK2, LRRK2, PINK1, DJ-1, SNCA, MAPT, APOE, and mtDNA tRNA(Gln) T4336C). |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Portugal | 1 | 2% |
Brazil | 1 | 2% |
Unknown | 42 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 9 | 20% |
Researcher | 8 | 18% |
Student > Master | 6 | 14% |
Professor | 3 | 7% |
Student > Bachelor | 2 | 5% |
Other | 8 | 18% |
Unknown | 8 | 18% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 11 | 25% |
Agricultural and Biological Sciences | 8 | 18% |
Neuroscience | 5 | 11% |
Biochemistry, Genetics and Molecular Biology | 4 | 9% |
Immunology and Microbiology | 1 | 2% |
Other | 2 | 5% |
Unknown | 13 | 30% |