Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is due to mutations in the "spastin" gene (SPAST gene) encoding the AAA protein. The main clinical features of "pure" HSP are progressive lower-limb spasticity with corticospinal tracts and dorsal column degeneration witho...

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Detalhes bibliográficos
Main Authors: Yang, Ji Won, Han, Ji-Young, Seong, Moon-Woo, Sung, Jung-Joon, Park, Sung Sup, Lee, Kwang-Woo
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society for Brain and Neural Science 2013
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3699674/
https://ncbi.nlm.nih.gov/pubmed/23833562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5607/en.2013.22.2.128
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