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

Jarosław Dulski; Rana Hanna Al-Shaikh; Anna Sulek; Jakub Kasprzak; Jarosław Sławek; Zbigniew K Wszolek

doi:10.1016/j.parkreldis.2022.10.028

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

Parkinsonism Relat Disord. 2022 Dec:105:39-42. doi: 10.1016/j.parkreldis.2022.10.028. Epub 2022 Oct 28.

Authors

Jarosław Dulski¹, Rana Hanna Al-Shaikh², Anna Sulek³, Jakub Kasprzak⁴, Jarosław Sławek⁵, Zbigniew K Wszolek⁶

Affiliations

¹ 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.
² Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
³ Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
⁴ Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland.
⁵ 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.
⁶ Department of Neurology, Mayo Clinic, Jacksonville, FL, USA. Electronic address: [email protected].

PMID: 36334556
DOI: 10.1016/j.parkreldis.2022.10.028

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.

Publication types

Letter
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural

MeSH terms

Humans
Machado-Joseph Disease* / genetics
Poland

Grants and funding

U19 AG063911/AG/NIA NIH HHS/United States