Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations

Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations

Abstract Background SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia (ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share some clinical presentations and both can be caused by SPG11 mutations, it was considered that definitive diagnosis m...

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Main Authors: Marzieh Khani, Hosein Shamshiri, Farzad Fatehi, Mohammad Rohani, Bahram Haghi Ashtiani, Fahimeh Haji Akhoundi, Afagh Alavi, Hamidreza Moazzeni, Hanieh Taheri, Mina Tolou Ghani, Leila Javanparast, Seyyed Saleh Hashemi, Ramona Haji‐Seyed‐Javadi, Matineh Heidari, Shahriar Nafissi, Elahe Elahi
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ALS
ARHSP
autosomal recessive hereditary spastic paraplegia
juvenile amyotrophic lateral sclerosis
SPG11
Online Access:https://doi.org/10.1002/mgg3.1240

Internet

https://doi.org/10.1002/mgg3.1240

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