Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.
Parkinsonism Relat Disord
; 123: 106943, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-38555792
ABSTRACT
We describe here a 73-year-old patient presenting with atypical MSA-P-like phenotype carrying a monoallelic p. W279X mutation in the APTX gene, which causes ataxia with oculomotor apraxia type 1 (AOA1) when in homozygous state. We hypothesize that rare monoallelic APTX variants could modulate MSA risk and phenotype.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Multiple System Atrophy
Limits:
Aged
/
Humans
/
Male
Language:
En
Journal:
Parkinsonism Relat Disord
Journal subject:
NEUROLOGIA
Year:
2024
Document type:
Article