Novel mutation in a patient with Charlevoix-Saguenay ataxia-a very rare disease with classical symptoms

Neurol Sci. 2022 Jan;43(1):723-724. doi: 10.1007/s10072-021-05687-0. Epub 2021 Oct 24.

Authors

Aleksandra Klimkowicz-Mrowiec¹, Anna Dziubek², Małgorzata Sado², Marek Karpiński²

Affiliations

¹ Department of Internal Medicine and Gerontology, Jagiellonian University Medical College, Faculty of Medicine, Jakubowskiego 2, 30-688, Krakow, Poland. Aleksandra.Klimkowicz@mp.pl.
² Haematological Diagnostics and Genetics Unit, University Hospital, Krakow, Poland.

PMID: 34689254
DOI: 10.1007/s10072-021-05687-0

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Ataxia / genetics
Female
Heat-Shock Proteins / genetics*
Humans
Muscle Spasticity
Mutation
Rare Diseases
Spinocerebellar Ataxias* / genetics

Substances

Heat-Shock Proteins
SACS protein, human