TY - JOUR
T1 - First report on spinocerebellar ataxia type 3 (Machado–Joseph disease) in Poland
AU - Dulski, Jarosław
AU - Al-Shaikh, Rana Hanna
AU - Sulek, Anna
AU - Kasprzak, Jakub
AU - Sławek, Jarosław
AU - Wszolek, Zbigniew K.
N1 - Funding Information:
Grants: the Haworth Family Professorship in Neurodegenerative Diseases fund, the Polish National Agency for Academic Exchange (BPN/WAL/2022/1/00007/U/00001).Grants: -NIH/NIA and NIH/NINDS (1U19AG063911, FAIN: U19AG063911), Mayo Clinic Center for Regenerative Medicine, Mayo Clinic APDA Center for Advanced Research, the gifts from the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson's Research Foundation. He serves as PI or Co-PI on Biohaven Pharmaceuticals, Inc. (BHV4157-206), Neuraly, Inc. (NLY01-PD-1), and Vigil Neuroscience, Inc. (VGL101-01.002, PET tracer development protocol, and CSF1R biomarker and repository project) grants.
Funding Information:
Grants: - NIH/NIA and NIH/NINDS ( 1U19AG063911 , FAIN: U19AG063911 ), Mayo Clinic Center for Regenerative Medicine, Mayo Clinic APDA Center for Advanced Research , the gifts from the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson's Research Foundation. He serves as PI or Co-PI on Biohaven Pharmaceuticals, Inc. (BHV4157-206), Neuraly, Inc. (NLY01-PD-1), and Vigil Neuroscience, Inc. (VGL101-01.002, PET tracer development protocol, and CSF1R biomarker and repository project) grants.
Publisher Copyright:
© 2022 Elsevier Ltd
PY - 2022/12
Y1 - 2022/12
N2 - 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.
AB - 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.
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U2 - 10.1016/j.parkreldis.2022.10.028
DO - 10.1016/j.parkreldis.2022.10.028
M3 - Letter
C2 - 36334556
AN - SCOPUS:85140993024
SN - 1353-8020
VL - 105
SP - 39
EP - 42
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
ER -