Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia

Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified by exome seq...

Descripción completa

Detalles Bibliográficos
Autores principales: Hebbar, Malavika, Shukla, Anju, Nampoothiri, Sheela, Bielas, Stephanie, Girisha, Katta M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344291/
https://www.ncbi.nlm.nih.gov/pubmed/30337681
http://dx.doi.org/10.1038/s10038-018-0523-y
_version_ 1783389404162686976
author Hebbar, Malavika
Shukla, Anju
Nampoothiri, Sheela
Bielas, Stephanie
Girisha, Katta M
author_facet Hebbar, Malavika
Shukla, Anju
Nampoothiri, Sheela
Bielas, Stephanie
Girisha, Katta M
author_sort Hebbar, Malavika
collection PubMed
description Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified by exome sequencing of index cases. The cohort consists of three families with spastic paraplegia type 47 (AP4B1) with a common mutation in two families, a family with spastic paraplegia type 50 (AP4M1), and two male siblings with X-linked spastic paraplegia 2 (PLP1). This work illustrates locus and allelic heterogeneity in five families with hereditary spastic paraplegia.
format Online
Article
Text
id pubmed-6344291
institution National Center for Biotechnology Information
language English
publishDate 2018
record_format MEDLINE/PubMed
spelling pubmed-63442912019-04-18 Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia Hebbar, Malavika Shukla, Anju Nampoothiri, Sheela Bielas, Stephanie Girisha, Katta M J Hum Genet Article Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified by exome sequencing of index cases. The cohort consists of three families with spastic paraplegia type 47 (AP4B1) with a common mutation in two families, a family with spastic paraplegia type 50 (AP4M1), and two male siblings with X-linked spastic paraplegia 2 (PLP1). This work illustrates locus and allelic heterogeneity in five families with hereditary spastic paraplegia. 2018-10-18 2019-01 /pmc/articles/PMC6344291/ /pubmed/30337681 http://dx.doi.org/10.1038/s10038-018-0523-y Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Hebbar, Malavika
Shukla, Anju
Nampoothiri, Sheela
Bielas, Stephanie
Girisha, Katta M
Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia
title Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia
title_full Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia
title_fullStr Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia
title_full_unstemmed Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia
title_short Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia
title_sort locus and allelic heterogeneity in five families with hereditary spastic paraplegia
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344291/
https://www.ncbi.nlm.nih.gov/pubmed/30337681
http://dx.doi.org/10.1038/s10038-018-0523-y
work_keys_str_mv AT hebbarmalavika locusandallelicheterogeneityinfivefamilieswithhereditaryspasticparaplegia
AT shuklaanju locusandallelicheterogeneityinfivefamilieswithhereditaryspasticparaplegia
AT nampoothirisheela locusandallelicheterogeneityinfivefamilieswithhereditaryspasticparaplegia
AT bielasstephanie locusandallelicheterogeneityinfivefamilieswithhereditaryspasticparaplegia
AT girishakattam locusandallelicheterogeneityinfivefamilieswithhereditaryspasticparaplegia

Ejemplares similares