Clinical and molecular research of neuroacanthocytosis

作     者：Lihong Zhang Suping Wang Jianwen Lin 

作者机构：Department of NeurologyDalian Municipal Central HospitalAffiliated Hospital of Dalian Medical University 

出 版 物：《Neural Regeneration Research》 (中国神经再生研究（英文版）)

年 卷 期：2013年第8卷第9期

页      面：833-842页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：neural regeneration neurodegenerative disease reviews neuroacanthocytosis chorea-acanthocytosis pantothenate kinase-associated neurodegeneration Huntington'sdisease-like 2 McLeod syndrome clinical manifestations features of inheritance extrapyramidaldisease photographs-containing paper neuroregeneration 

摘      要：Neuroacanthocytosis is an autosomal recessive or dominant inherited disease characterized by widespread, non-specific nervous system symptoms, or spiculated ＂acanthocytic＂ red blood cells. The clinical manifestations typically involve chorea and dystonia, or a range of other movement disorders. Psychiatric and cognitive symptoms may also be present. The two core neuroacanthocytosis syndromes, in which acanthocytosis is atypical, are autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome. Acanthocytes are found in a smaller proportion of patients with Huntington＇s disease-like 2 and pantothenate kinase-associated neurodegeneration. Because the clinical manifestations are diverse and complicated, in this review we present features of inheritance, age of onset, neuroimaging and laboratory findings, as well as the spectrum of central and peripheral neurological abnormalities and extraneuronal involvement to help distinguish the four specific syndromes.