Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene
Journal of the Korean Neurological Association
;
: 365-367, 2011.
Artigo
em 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Paraplegia Espástica Hereditária
/
Éxons
/
Doenças Neurodegenerativas
/
Mutação de Sentido Incorreto
/
Extremidade Inferior
/
Heterozigoto
/
Espasticidade Muscular
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2011
Tipo de documento:
Artigo
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