Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.
BMC Res Notes
; 9: 295, 2016 Jun 07.
Article
en En
| MEDLINE
| ID: mdl-27268037
ABSTRACT
BACKGROUND:
Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism.METHOD:
Targeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in two index cases from two different Saudi families displaying early-onset levodopa-responsive Parkinsonism with pyramidal signs and additional clinical features. The detected mutations were verified in the index cases and available family members by direct sequencing. RESULTS ANDCONCLUSION:
We identified a previously described PLA2G6 homozygous p.R741Q mutation in three affected and two asymptomatic individuals from two Saudi families. Our finding reinforces the notion of the broadness of the clinical spectrum of PLA2G6-related neurodegeneration.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Heterogeneidad Genética
/
Mutación Missense
/
Trastornos Parkinsonianos
/
Fosfolipasas A2 Grupo VI
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
BMC Res Notes
Año:
2016
Tipo del documento:
Article
País de afiliación:
Arabia Saudita