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.
Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Parkinsonism Relat Disord. 2022 Dec;105:39-42. doi: 10.1016/j.parkreldis.2022.10.028. Epub 2022 Oct 28.
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.
脊髓小脑性共济失调 3 型(SCA3;马查多-约瑟夫病,MJD)是全球最常见的常染色体显性遗传性共济失调。然而,它从未在东欧报道过。这封信介绍了来自波兰的 SCA3 的前三个家系,并讨论了该疾病对临床医生的实际影响。