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...

Descripción completa

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
_version_ 1783261144363827200
author Bogucki, Piotr
Sobczyńska‐Tomaszewska, Agnieszka
author_facet Bogucki, Piotr
Sobczyńska‐Tomaszewska, Agnieszka
author_sort Bogucki, Piotr
collection PubMed
description 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.
format Online
Article
Text
id pubmed-5582219
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-55822192017-09-06 First patient with hereditary spastic paraplegia type 8 in Poland Bogucki, Piotr Sobczyńska‐Tomaszewska, Agnieszka Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-07-25 /pmc/articles/PMC5582219/ /pubmed/28878906 http://dx.doi.org/10.1002/ccr3.1080 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Bogucki, Piotr
Sobczyńska‐Tomaszewska, Agnieszka
First patient with hereditary spastic paraplegia type 8 in Poland
title First patient with hereditary spastic paraplegia type 8 in Poland
title_full First patient with hereditary spastic paraplegia type 8 in Poland
title_fullStr First patient with hereditary spastic paraplegia type 8 in Poland
title_full_unstemmed First patient with hereditary spastic paraplegia type 8 in Poland
title_short First patient with hereditary spastic paraplegia type 8 in Poland
title_sort first patient with hereditary spastic paraplegia type 8 in poland
topic Case Reports
url 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
work_keys_str_mv AT boguckipiotr firstpatientwithhereditaryspasticparaplegiatype8inpoland
AT sobczynskatomaszewskaagnieszka firstpatientwithhereditaryspasticparaplegiatype8inpoland

Ejemplares similares