First report on spinocerebellar ataxia type 3 (Machado-Joseph disease) in Poland.

Autor: Dulski J; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland., Al-Shaikh RH; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA., Sulek A; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Kasprzak J; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland., Sławek J; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland., Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA. Electronic address: Wszolek.Zbigniew@mayo.edu.
Jazyk: angličtina
Zdroj: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2022 Dec; Vol. 105, pp. 39-42. Date of Electronic Publication: 2022 Oct 28.
DOI: 10.1016/j.parkreldis.2022.10.028
Abstrakt: 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.
Competing Interests: Declaration of competing interest The authors have no conflicts of interest to declare.
(Copyright © 2022 Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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