C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA).
Neurol Neurochir Pol
; 56(3): 276-280, 2022.
Article
em En
| MEDLINE
| ID: mdl-35661131
ABSTRACT
INTRODUCTION:
The expansion of a hexanucleotide GGGGCC repeat (G4C2) in the C9orf72 locus is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). In addition, C9orf72 expansion has also been detected in patients with a clinical manifestation of Parkinson's Disease (PD), Alzheimer's Disease (AD), Huntington's Disease (HD), and ataxic disorders. MATERIAL ANDMETHODS:
A total of 1,387 patients with clinically suspected ALS, HD or spinal and bulbar muscular atrophy (SBMA) were enrolled, and the prevalence of C9orf72 expansions was estimated.RESULTS:
The hexanucleotide expansion accounted for 3.7% of the ALS patients, 0.2% of the HD suspected patients with excluded HTT mutation, and 1.3% of the suspected SBMA patients with excluded mutation in AR gene.CONCLUSIONS:
This is the first report revealing the presence of C9orf72 expansion in patients with a suspected SBMA diagnosis. Consequently, we advise testing for C9orf72 expansion in patients presenting with the SBMA phenotype and a genetically unsolved diagnosis.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Atrofia Bulboespinal Ligada ao X
/
Demência Frontotemporal
/
Esclerose Lateral Amiotrófica
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Neurol Neurochir Pol
Ano de publicação:
2022
Tipo de documento:
Article