Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report |
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| Authors: | Conceição Bettencourt Paula Coutinho Patrizia Rizzu João Vasconcelos Teresa Kay Teresa Cymbron Mafalda Raposo Peter Heutink Manuela Lima |
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| Institution: | 1.Center of Research in Natural Resources (CIRN),University of the Azores,Ponta Delgada,Portugal;2.Department of Biology,University of the Azores,Ponta Delgada,Portugal;3.Institute for Molecular and Cell Biology (IBMC),University of Porto,Porto,Portugal;4.Laboratorio de Biología Molecular,Instituto de Enfermedades Neurológicas, Fundación Socio-Sanitaria de Castilla-La Mancha,Guadalajara,Spain;5.Unitat Antropologia Biològica, Dep. Biologia Animal,Biologia Vegetal i Ecologia, Universitat Autònoma de Barcelona,Bellaterra (Barcelona),Spain;6.Department of Neurology,Hospital S?o Sebasti?o,Feira,Portugal;7.Section of Medical Genomics, Department of Clinical Genetics,VU University Medical Center,Amsterdam,The Netherlands;8.Department of Neurology,Hospital of Divino Espirito Santo,Ponta Delgada,Portugal;9.Department of Clinical Genetics,Hospital of D. Estefania,Lisbon,Portugal |
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| Abstract: | 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 tRNA
Gln
T4336C). |
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