title: Chinese homozygous Machado-Joseph disease (MJD)/SCA3: a case report.
abstract: A young Chinese male patient was identified as homozygous for Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3. This patient had a 4-year medical history mainly presenting severe ataxia, abnormal eye movement and pyramidal signs. Magnetic resonance imaging of the brain and cervical spinal cord revealed no obvious abnormality despite the severe symptoms and the findings of an electromyogram. However, brainstem auditory evoked potential indicated peripheral impairment and visual evoked potential indicated central impairment of his visual pathways. Molecular diagnosis revealed the pattern of CAG repeat units of this patient was 71/71. This case demonstrates that homozygosity for MJD enhances the clinical severity of the disease, which suggests that genetic education is of great importance.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Sheng
authors.initials: S
authors.lastname: Zeng
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Junsheng
authors.initials: J
authors.lastname: Zeng
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Miao
authors.initials: M
authors.lastname: He
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Xianfeng
authors.initials: X
authors.lastname: Zeng
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Yao
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Liu
authors.affiliation: 1] Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China [2] Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha, Hunan, P.R. China [3] State Key Laboratory of Medical Genetics, Changsha, Hunan, P.R. China.
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.affiliation: 1] Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China [2] Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha, Hunan, P.R. China [3] State Key Laboratory of Medical Genetics, Changsha, Hunan, P.R. China.
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.affiliation: 1] Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China [2] Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha, Hunan, P.R. China [3] State Key Laboratory of Medical Genetics, Changsha, Hunan, P.R. China.
authors.forename: Junling
authors.initials: J
authors.lastname: Wang
mesh_terms: D044466:Asian People / Q000235:genetics; D000067699:Ataxin-3 / Q000235:genetics*; D001933:Brain Stem / Q000378:metabolism / Q000503:physiopathology; D002681:China; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004576:Electromyography; D005072:Evoked Potentials, Auditory / Q000235:genetics / Q000502:physiology; D005074:Evoked Potentials, Visual / Q000235:genetics / Q000502:physiology; D005192:Family Health; D005260:Female; D006720:Homozygote; D006801:Humans; D017827:Machado-Joseph Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012097:Repressor Proteins / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics*; D055815:Young Adult
chemical_list: D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3