First report on spinocerebellar ataxia type 3 (Machado–Joseph disease) in Poland. (December 2022)

• Record Type: Journal Article
• Authors: Dulski, Jarosław; Al-Shaikh, Rana Hanna; Sulek, Anna; Kasprzak, Jakub; Sławek, Jarosław; Wszolek, Zbigniew K.
• Is Part Of: Parkinsonism & related disorders. Volume 105(2022)
• Page Start: 39
• Page End: 42
• Publication Date: 2022-12
• Subjects: Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2022.10.028
• Languages: English
• ISSNs: 1353-8020

Abstract

Abstract: Spinocerebellar ataxia type 3 (SCA3; Machado-Joseph disease, MJD) is the most common autosomal-dominant form of genetic ataxia worldwide. However, it has never been reported in Eastern Europe. This letter presents the first three families with SCA3 from Poland and discusses the practical implications of the disease for clinicians.