Phenotype in Machado - Joseph Disease ( MJD / SCA 3 ) : a Two - Case Report
نویسندگان
چکیده
1. Center of Research in Natural Resources (CIRN) and Department of Biology, University of the Azores, Ponta 6 Delgada, Portugal 7 2. Institute for Molecular and Cellular Biology (IBMC), University of Porto, Porto, Portugal 8 3. Laboratorio de Biología Molecular, Instituto de Enfermedades Neurológicas, Fundación Socio-Sanitaria de 9 Castilla-La Mancha, Guadalajara, Spain 10 4. Unitat Antropologia Biològica, Dep. Biologia Animal, Biologia Vegetal i Ecologia, Universitat Autònoma de 11 Barcelona, Bellaterra (Barcelona), Spain 12 4. Department of Neurology, Hospital São Sebastião, Feira, Portugal 13 5. Section Medical Genomics, Department of Clinical Genetics, VU University Medical Center, Amsterdam, the 14 Netherlands 15 6. Department of Neurology, Hospital of Divino Espirito Santo, Ponta Delgada, Portugal 16 7. Department of Clinical Genetics, Hospital of D. Estefania, Lisbon, Portugal 17 18
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Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report
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 pa...
متن کاملFrequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.
OBJECTIVE To assess the frequency of SCA1 (spinocerebellar ataxia type 1), SCA2, SCA3/MJD (spinocerebellar ataxia type 3/Machado-Joseph disease), SCA6, SCA7, and DRPLA (dentatorubropallidoluysian atrophy) CAG trinucleotide repeat expansions [(CAG)n] among persons diagnosed with hereditary SCA from Chinese families. PATIENTS AND METHODS Spinocerebellar ataxia type 1, SCA2, SCA3/MJD, SCA6, SCA7...
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genetically heterogeneous group of neurodegenerative disorders caused by cytosine-adenine-guanine (CAG) trinucleotide repeat expansions. Machado Joseph Disease (MJD) or SCA-3 was originally described in the Portuguese Azores islands and currently it is the most common autosomal dominant SCA worldwide. It is caused by CAG repeat expansion in the exon 10 of the MJD gene which codes for the ataxin...
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We describe three patients with spinocerebellar ataxia (SCA) and marked eyelid retraction: A 33-year-old woman with ataxia, pyramidal signs and eyelid retraction; genetic test confirmed SCA1 (Figure A). A 41-year-old man with ataxia, ophthalmoplegia, neuropathy and eyelid retraction; genetic test confirmed SCA2 (Figure B). A 68-year-old man with ataxia, neuropathy, nystagmus and eyelid retracti...
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Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST) can be used to identify persons at risk of developing the disease. Gen...
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