Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity.
Amyotroph Lateral Scler Frontotemporal Degener
; 23(7-8): 623-626, 2022 Nov.
Article
em En
| MEDLINE
| ID: mdl-35793404
ABSTRACT
We describe a Tunisian family carrier of the same rare mutation in TARDBP but developing different neurodegenerative disease with heterogenous features. We explored the possible genetic modifiers leading to the observed intrafamilial phenotypic variability. Genetic analysis identified TARDBP p.G294A mutation among4 members. Additionally, the ALS case was muted in GBA. While the three cases of AD were carriers of PRKN and GBA mutations. Finally, the FTD-parkinsonism patient was mutated for LRRK2 p.G2019S that might increase his susceptibility to develop Parkinsonism spectrum. Genetic variants of TARDBP may influence the clinical manifestation in ALS case.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças Neurodegenerativas
/
Transtornos Parkinsonianos
/
Esclerose Lateral Amiotrófica
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Amyotroph Lateral Scler Frontotemporal Degener
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Tunísia