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Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.
Annals of Clinical and Translational Neurology ( IF 5.3 ) Pub Date : 2014-05-20 , DOI: 10.1002/acn3.64 Benoît Renvoisé 1 , Jaerak Chang 1 , Rajat Singh 1 , Sayuri Yonekawa 2 , Edmond J FitzGibbon 3 , Ami Mankodi 1 , Adeline Vanderver 4 , Alice Schindler 1 , Camilo Toro 5 , William A Gahl 5 , Don J Mahuran 2 , Craig Blackstone 1 , Tyler Mark Pierson 6
Annals of Clinical and Translational Neurology ( IF 5.3 ) Pub Date : 2014-05-20 , DOI: 10.1002/acn3.64 Benoît Renvoisé 1 , Jaerak Chang 1 , Rajat Singh 1 , Sayuri Yonekawa 2 , Edmond J FitzGibbon 3 , Ami Mankodi 1 , Adeline Vanderver 4 , Alice Schindler 1 , Camilo Toro 5 , William A Gahl 5 , Don J Mahuran 2 , Craig Blackstone 1 , Tyler Mark Pierson 6
Affiliation
Hereditary spastic paraplegias (HSPs) are among the most genetically diverse inherited neurological disorders, with over 70 disease loci identified (SPG1‐71) to date. SPG15 and SPG11 are clinically similar, autosomal recessive disorders characterized by progressive spastic paraplegia along with thin corpus callosum, white matter abnormalities, cognitive impairment, and ophthalmologic abnormalities. Furthermore, both have been linked to early‐onset parkinsonism.
中文翻译：
遗传性痉挛性截瘫 SPG15 和 SPG11 型的溶酶体异常。
遗传性痉挛性截瘫 (HSP) 是遗传性最强的遗传性神经系统疾病之一，迄今已鉴定出 70 多个疾病位点 (SPG1-71)。SPG15 和 SPG11 是临床上相似的常染色体隐性遗传疾病，其特征是进行性痉挛性截瘫以及胼胝体薄、白质异常、认知障碍和眼科异常。此外，两者都与早发性帕金森病有关。
更新日期：2014-05-20
中文翻译：
遗传性痉挛性截瘫 SPG15 和 SPG11 型的溶酶体异常。
遗传性痉挛性截瘫 (HSP) 是遗传性最强的遗传性神经系统疾病之一，迄今已鉴定出 70 多个疾病位点 (SPG1-71)。SPG15 和 SPG11 是临床上相似的常染色体隐性遗传疾病，其特征是进行性痉挛性截瘫以及胼胝体薄、白质异常、认知障碍和眼科异常。此外，两者都与早发性帕金森病有关。
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