title: Chinese patients with spinocerebellar ataxia type 3 presenting with rare clinical symptoms.
abstract: Clinical heterogeneity is the prominent feature of spinocerebellar ataxia type 3 (SCA3) which is sometimes neglected and often impedes the timely diagnosis of patients. In this study, the clinical data of 201 unrelated Chinese SCA3 patients were retrospectively studied. The rare clinical features were summarized and the underlying genetic mutations were screened by direct DNA sequencing. Three patients were found primarily presenting with the rare clinical features, including dystonic phenotype without response to levodopa, chorea and memory decline, and hearing impairment, respectively. We firstly reported three diverse heterogeneities of SCA3 patients, which are quite uncommon in the Chinese SCA3 patients. Our results expanded the variable phenotypes of SCA3 and provided the explicit information for the rare and special SCA3 manifestations. Based on this new knowledge, we suggested that when the presentation was consistent with HD or DRD while negative in the corresponding genetic testing, SCA3 should be considered, and clinicians should divert partial attention to the examinations on the auditory system of SCA3 patients.
authors.affiliation: Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Dong
authors.forename: Yi-Min
authors.initials: YM
authors.lastname: Sun
authors.forename: Wang
authors.initials: W
authors.lastname: Ni
authors.forename: Shi-Rui
authors.initials: SR
authors.lastname: Gan
authors.forename: Zhi-Ying
authors.initials: ZY
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D044466:Asian People; D000067699:Ataxin-3; D003072:Cognition Disorders / Q000209:etiology; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004421:Dystonia / Q000209:etiology; D005260:Female; D034381:Hearing Loss / Q000209:etiology; D006801:Humans; D000071058:Huntingtin Protein; D017827:Machado-Joseph Disease / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000209:etiology; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D012097:Repressor Proteins / Q000235:genetics; D055815:Young Adult
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3