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TDP-43 Pathology in a Case of Hereditary Spastic Paraplegia with a NIPA1/SPG6 Mutation
Mutations in NIPA1 (non-imprinted in Prader-Willi/Angelman syndrome) have been described as a cause of autosomal dominant hereditary spastic paraplegia (HSP) known as SPG6 (spastic paraplegia-6). We present the first neuropathological description of a patient with a NIPA1 mutation, and clinical phen...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3361549/ https://ncbi.nlm.nih.gov/pubmed/22302102 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-012-0947-y |
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