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Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-05-08 , DOI: 10.1002/mgg3.1240 Marzieh Khani 1 , Hosein Shamshiri 2 , Farzad Fatehi 2 , Mohammad Rohani 3 , Bahram Haghi Ashtiani 4 , Fahimeh Haji Akhoundi 4 , Afagh Alavi 5 , Hamidreza Moazzeni 1 , Hanieh Taheri 1 , Mina Tolou Ghani 1 , Leila Javanparast 5 , Seyyed Saleh Hashemi 5 , Ramona Haji-Seyed-Javadi 6 , Matineh Heidari 4 , Shahriar Nafissi 2 , Elahe Elahi 1
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-05-08 , DOI: 10.1002/mgg3.1240 Marzieh Khani 1 , Hosein Shamshiri 2 , Farzad Fatehi 2 , Mohammad Rohani 3 , Bahram Haghi Ashtiani 4 , Fahimeh Haji Akhoundi 4 , Afagh Alavi 5 , Hamidreza Moazzeni 1 , Hanieh Taheri 1 , Mina Tolou Ghani 1 , Leila Javanparast 5 , Seyyed Saleh Hashemi 5 , Ramona Haji-Seyed-Javadi 6 , Matineh Heidari 4 , Shahriar Nafissi 2 , Elahe Elahi 1
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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 may not be straight forward.
中文翻译：
描述某些SPG11突变患者的ARHSP / JALS联合表型。
SPG11突变可导致常染色体隐性遗传性痉挛性截瘫（ARHSP）和青少年肌萎缩性侧索硬化症（JALS）。由于这些疾病共有一些临床表现，并且两者都可能由SPG11突变引起，因此认为明确的诊断可能并不直接。
更新日期：2020-07-06
中文翻译：
描述某些SPG11突变患者的ARHSP / JALS联合表型。
SPG11突变可导致常染色体隐性遗传性痉挛性截瘫（ARHSP）和青少年肌萎缩性侧索硬化症（JALS）。由于这些疾病共有一些临床表现，并且两者都可能由SPG11突变引起，因此认为明确的诊断可能并不直接。
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