Profiling complex repeat expansions in RFC1 in Parkinson's disease.
NPJ Parkinsons Dis
; 10(1): 108, 2024 May 24.
Article
en En
| MEDLINE
| ID: mdl-38789445
ABSTRACT
A biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within the gene RFC1 is a frequent cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and more recently, has been reported as a rare cause of Parkinson's disease (PD) in the Finnish population. Here, we investigate the prevalence of RFC1 (AAGGG) expansions in PD patients of non-Finnish European ancestry in 1609 individuals from the Parkinson's Progression Markers Initiative study. We identified four PD patients carrying the biallelic RFC1 (AAGGG) expansion and did not identify any carriers in controls.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
NPJ Parkinsons Dis
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos