title: Clinical manifestations and gene mutation in a case of Machado-Joseph disease.
abstract: 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.
authors.affiliation: Department of Neurology, Branch Hospital in Fengxian of Sixth People's Hospital, Shanghai Neurological Research Institute of Anhui University of Science & Technology, the Affiliated Hospital of Anhui University of Science & Technology, Shanghai 201499, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Zhang
authors.affiliation: Department of Emergency, Branch Hospital in Fengxian of Sixth People's Hospital, Shanghai Neurological Research Institute of Anhui University of Science & Technology, the Affiliated Hospital of Anhui University of Science & Technology, Shanghai 201499, China.
authors.forename: Liru
authors.initials: L
authors.lastname: Li
authors.affiliation: Department of Radiology, Branch Hospital in Fengxian of Sixth People's Hospital, Shanghai Neurological Research Institute of Anhui University of Science & Technology, the Affiliated Hospital of Anhui University of Science & Technology, Shanghai 201499, China.
authors.forename: Longxing
authors.initials: L
authors.lastname: Chen
authors.affiliation: Department of Neurology, Branch Hospital in Fengxian of Sixth People's Hospital, Shanghai Neurological Research Institute of Anhui University of Science & Technology, the Affiliated Hospital of Anhui University of Science & Technology, Shanghai 201499, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Huang
keywords: clinical characteristics; exon 10; gene mutation; imaging; machado-Joseph disease; molecular genetics; nervous system disease; spinocerebellar ataxia; spinocerebellar ataxia-3 gene