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Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3) : a two-case report
Bettencourt, Conceição (Universidade dos Açores. Center of Research in Natural Resources)
Pereira dos Santos, Cristina Maria (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d’Ecologia)
Coutinho, Paula (Universidade do Porto. Institute for Molecular and Cell Biology)
Rizzu, Patrizia (VU University Medical Center. Department of Clinical Genetics)
Vasconcelos, João (Hospital of Divino Espirito Santo. Department of Neurology)
Kay, Teresa (Hospital of D. Estefania. Department of Clinical Genetics (Lisboa, Portugal))
Cymbron, Teresa (Universidade dos Açores. Center of Research in Natural Resources)
Raposo, Mafalda (Universidade dos Açores. Center of Research in Natural Resources)
Heutink, Peter (VU University Medical Center. Department of Clinical Genetics)
Lima, Manuela (Universidade dos Açores. Center of Research in Natural Resources)

Data: 2011
Resum: Background: 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 tRNAGln T4336C). Case presentation: Patient 1 is a 40 year-old female (onset at 30 years of age), initially with a pure parkinsonian phenotype (similar to the phenotype previously reported for her mother). Patient 2 is a 38 year-old male (onset at 33 years of age), presenting an ataxic phenotype with parkinsonian features (not seen either in other affected siblings or in his father). Both patients presented an expanded ATXN3 allele with 72 CAG repeats. No PD mutations were found in the analyzed loci. However, allelic variants previously associated with PD were observed in DJ-1 and APOE genes, for both patients. Conclusions: The present report adds clinical and genetic information on this particular and rare MJD presentation, and raises the hypothesis that DJ-1 and APOE polymorphisms may confer susceptibility to the parkinsonian phenotype in MJD.
Drets: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. Creative Commons
Llengua: Anglès
Document: article ; recerca ; publishedVersion
Publicat a: BMC Neurology, Vol. 11, N. 131 (October 2011) , p. 1-5, ISSN 1471-2377

DOI: 10.1186/1471-2377-11-131

5 p, 238.9 KB

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