一名携带p.Pro26Thr变异的患者出现无痉挛性截瘫的快速进展性行为综合征。 - Suppr

Rapidly Progressive Behavioral Syndrome Without Spastic Paraplegia in a Patient With p.Pro26Thr Variant.

作者信息

Arshad Faheem, Alladi Suvarna, Kulanthaivelu Karthik

机构信息

Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.

Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.

出版信息

Dement Neurocogn Disord. 2022 Apr;21(2):79-82. doi: 10.12779/dnd.2022.21.2.79. Epub 2022 Apr 30.

DOI:10.12779/dnd.2022.21.2.79

PMID:35585908

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9085533/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbd5/9085533/82d74037f386/dnd-21-79-g001.jpg

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本文引用的文献

De novo SPAST mutations may cause a complex SPG4 phenotype.

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JAMA Neurol. 2016 Dec 1;73(12):1433-1439. doi: 10.1001/jamaneurol.2016.2229.

Cognitive Impairment Involving Social Cognition in SPG4 Hereditary Spastic Paraplegia.

Behav Neurol. 2016;2016:6423461. doi: 10.1155/2016/6423461. Epub 2016 Sep 4.

Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.

Eur J Neurol. 2017 Jan;24(1):37-45. doi: 10.1111/ene.13125. Epub 2016 Sep 29.

Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence.

Neurology. 2009 Aug 4;73(5):378-84. doi: 10.1212/WNL.0b013e3181b04c6c.

Defining the phenotype in human genetic studies: forward genetics and reverse phenotyping.

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Rapidly Progressive Behavioral Syndrome Without Spastic Paraplegia in a Patient With p.Pro26Thr Variant.

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