Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.
Parkinsonism Relat Disord
; 123: 106943, 2024 Jun.
Article
en 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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Atrofia de Múltiples Sistemas
Límite:
Aged
/
Humans
/
Male
Idioma:
En
Revista:
Parkinsonism Relat Disord
Asunto de la revista:
NEUROLOGIA
Año:
2024
Tipo del documento:
Article