Clinical manifestations and gene mutation in a case of Machado-Joseph disease★

This study reports a case of a 75-year-old female Machado-Joseph disease patient exhibiting unstable walking and inaccurate hand holding for 8 months, which progressively worsened. Physical examination on admission showed cerebellar ataxia and a history of hypertension. Cranial MRI demonstrated cere...

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Detalles Bibliográficos
Autores principales: Zhang, Bin, Li, Liru, Chen, Longxing, Huang, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Autonomic Nerve Damage and Neural Regeneration
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190867/
https://www.ncbi.nlm.nih.gov/pubmed/25317135
http://dx.doi.org/10.3969/j.issn.1673-5374.2012.35.013
Descripción
Sumario:This study reports a case of a 75-year-old female Machado-Joseph disease patient exhibiting unstable walking and inaccurate hand holding for 8 months, which progressively worsened. Physical examination on admission showed cerebellar ataxia and a history of hypertension. Cranial MRI demonstrated cerebellar and brain stem atrophy. Gene analysis showed abnormal amplification of the CAG trinucleotide repeat in exon 10 of the ataxin-3 (ATXN3) gene, resulting in 70–81 CAG repeats in the patient, with a significant positive family history.

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