Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11.
Neuropediatrics
; 41(1): 35-8, 2010 Feb.
Article
en En
| MEDLINE
| ID: mdl-20571989
ABSTRACT
Autosomal recessive hereditary spastic paraplegia with thinning of the anterior corpus callosum (ARHSP-TCC) due to mutations in SPG11 on chromosome 15q (MIM610844) is the single most common cause of ARHSP. It is characterized by slowly progressive paraparesis and peripheral neuropathy. Although cognitive impairment, sometimes diagnosed as mental retardation, is an almost invariable feature, the extent and specific neuropsychological features are not fully understood. We report a comprehensive neuropsychological assessment in two ARHSP-TCC patients harbouring mutations in SPG11. A specific impairment in executive functions occurring even before cognitive decline, may be considered the core of the neuropsychological profile of patients harbouring mutations in SPG11.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Proteínas
/
Cuerpo Calloso
/
Paraparesia Espástica
/
Mutación
Tipo de estudio:
Etiology_studies
Límite:
Adolescent
/
Humans
/
Male
Idioma:
En
Año:
2010
Tipo del documento:
Article