Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.
Parkinsonism Relat Disord
; 123: 106943, 2024 Jun.
Article
em 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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Atrofia de Múltiplos Sistemas
Limite:
Aged
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Humans
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Male
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article