Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient

Spinocerebellar ataxia (SCA) type 17-digenic TBP/STUB1 disease (SCA17-DI) has been recently segregated from SCA17, caused by digenic inheritance of two gene mutations – intermediate polyglutamine-encoding CAG/CAA repeat expansions (polyQ) in TBP (TBP(41 − 49)) and STUB1 heterozygosity – the former b...

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Detalles Bibliográficos
Autores principales: Saito, Rie, Tada, Yui, Oikawa, Daisuke, Sato, Yusuke, Seto, Makiko, Satoh, Akira, Kume, Kodai, Ueki, Nozomi, Nakashima, Masahiro, Hayashi, Shintaro, Toyoshima, Yasuko, Tokunaga, Fuminori, Kawakami, Hideshi, Kakita, Akiyoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9727856/
https://www.ncbi.nlm.nih.gov/pubmed/36476347
http://dx.doi.org/10.1186/s40478-022-01486-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9727856/
https://www.ncbi.nlm.nih.gov/pubmed/36476347
http://dx.doi.org/10.1186/s40478-022-01486-6

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