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舞蹈病-棘红细胞增多症与内侧颞叶硬化的共现：尾状核的可能作用。

Cooccurrence of Chorea-Acanthocytosis and Mesial Temporal Sclerosis: A Possible Role of Caudate Nucleus.

作者信息

Salari Mehri, Lehn Alexander C, Etemadifar Masoud, Hejazi Seyed Amir

机构信息

Department of Neurology, School of Medicine, Qom University of Medical Science, Qom, Iran.

Department of Neurology, Princess Alexandra Hospital, Brisbane, QLD, Australia.

出版信息

Case Rep Neurol Med. 2017;2017:2810925. doi: 10.1155/2017/2810925. Epub 2017 Aug 13.

DOI:10.1155/2017/2810925
PMID:28884035
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5572089/
Abstract

Chorea-acanthocytosis (ChAc) is an orphan disease, caused by mutations on chromosome 9. Epileptic seizures of mesial temporal origin can be a predominant symptom. We report on a 29-year-old woman with ChAc and bilateral MTS. Previously, few patients with coexisting ChAc and MTS were reported. The underlying pathophysiology is unknown, and further studies are needed.

摘要

舞蹈病-棘红细胞增多症（ChAc）是一种由9号染色体突变引起的罕见病。颞叶内侧起源的癫痫发作可能是其主要症状。我们报告了一名患有ChAc和双侧颞叶内侧硬化（MTS）的29岁女性。此前，鲜有ChAc和MTS共存患者的报道。其潜在病理生理学尚不清楚，需要进一步研究。

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