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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Huvudupphovsmän: Martinez-Lage, Maria, Molina-Porcel, Laura, Falcone, Dana, McCluskey, Leo, Lee, Virginia M.-Y., Van Deerlin, Vivianna M., Trojanowski, John Q.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2012
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Article
Länkar: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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