[Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review]. / Spasticheskaia ataksiia Sharlevua-Sagené: pervoe rossiiskoe nabliudenie i obzor literatury.
Zh Nevrol Psikhiatr Im S S Korsakova
; 120(2): 85-91, 2020.
Article
in Ru
| MEDLINE
| ID: mdl-32307416
ABSTRACT
Spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare autosomal recessive neurodegenerative disease related to SACS gene and characterized by cerebellar, pyramidal and some other signs. The disease was delineated in Quebec, where it cumulates due to founder effect and has similar phenotype with very early onset. ARSACS in other populations is more variable. The first Russian case of ARSACS in a 37-year-old woman, an only patient in a Lak (one of Dagestan ethnicities) family, is presented. Along with main typical features, she had atypical late disease onset (in 32 years) and moderate cognitive decline. MPS-panel 'hereditary paraplegias' detected an earlier reported homo- or hemizygous mutation c.72276C>T (p.Arg2426Stop) in SACS exon 10.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spinocerebellar Ataxias
/
Heat-Shock Proteins
Type of study:
Systematic_reviews
Limits:
Adult
/
Female
/
Humans
Country/Region as subject:
Asia
/
Europa
Language:
Ru
Journal:
Zh Nevrol Psikhiatr Im S S Korsakova
Journal subject:
NEUROLOGIA
/
PSIQUIATRIA
Year:
2020
Document type:
Article
Affiliation country:
Rusia