Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene
Journal of the Korean Neurological Association
;
: 365-367, 2011.
Artículo
en Coreano
| WPRIM
| ID: wpr-109587
ABSTRACT
Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders that are characterized by progressive spasticity and weakness of both lower extremities. Here we report a novel missense mutation [c.1105A>C (p.Thr369Pro)] of SPG4 in a Korean family with an autosomal dominant-inherited pure HSP. The mutation is located in exon 8, and results in a heterozygote of the c.1105A>C mutation. It is likely that the mutation of exon 8 leads to spastin dysfunction and causes the typical symptoms and signs of HSP.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Paraplejía Espástica Hereditaria
/
Exones
/
Enfermedades Neurodegenerativas
/
Mutación Missense
/
Extremidad Inferior
/
Heterocigoto
/
Espasticidad Muscular
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
2011
Tipo del documento:
Artículo
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