Amyotrophic lateral sclerosis with primary progressive aphasia: a case report and literature review.
Neuro Endocrinol Lett
; 43(6): 293-302, 2022 Dec 29.
Article
em En
| MEDLINE
| ID: mdl-36586129
ABSTRACT
The association between amyotrophic lateral sclerosis (ALS) and primary progressive aphasia (PPA) is rarely seen in patients. A case of ALS-PPA with a possible reticulon 2 (RTN2) mutation was reported in this study. Moreover, we systematically reviewed the previous reports of 28 ALS cases with progressive non-fluent aphasia (PNFA) and semantic dementia (SD) to identified the unique pathologic features and strong heritability of ALS-PPA. There is a different heritability among the ALS-SD, ALS-PNFA, and the ALS-unclassified PPA groups (p=0.003). Males are more prone to have ALS-PPA than females in all the three groups (p=0.028). PPA-ALS usually starts with cognitive impairment, and the onset most often involves the bulbar. In addition, chromosome 9 open reading frame 72(C9ORF72) and TANK-binding kinase 1 (TBK1) are important pathogenic genes of PPA-ALS. Overall, heritability is of high certainty in ALS-SD, ALS-PNFA, and the ALS-unclassified PPA groups. TAR (Trans-Activator Regulatory) DNA-binding Protein 43 (TDP43) is a 100% predictive pathologic protein of ALS-PPA. C9ORF72 and TBK1 are important pathogenic genes of PPA-ALS.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Afasia Primária Progressiva
/
Demência Frontotemporal
/
Esclerose Lateral Amiotrófica
Tipo de estudo:
Prognostic_studies
/
Systematic_reviews
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Neuro Endocrinol Lett
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
China