First patient with hereditary spastic paraplegia type 8 in Poland

SPG 8 is an autosomal dominant HSP, which phenotype results from KIAA0196 gene mutations. There have been twelve types of KIAA0196 mutations described in HGMD, which are located in conservative region of gene encoding strumpellin. We describe first patient in Poland, simultaneously second in the wor...

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Detalles Bibliográficos
Autores principales: Bogucki, Piotr, Sobczyńska‐Tomaszewska, Agnieszka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582219/
https://www.ncbi.nlm.nih.gov/pubmed/28878906
http://dx.doi.org/10.1002/ccr3.1080
Descripción
Sumario:SPG 8 is an autosomal dominant HSP, which phenotype results from KIAA0196 gene mutations. There have been twelve types of KIAA0196 mutations described in HGMD, which are located in conservative region of gene encoding strumpellin. We describe first patient in Poland, simultaneously second in the world with KIAA0196 mutation – p.V620A.

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