Clinical and molecular research of neuroacanthocytosis  

作　　者：Lihong Zhang Suping Wang Jianwen Lin 

机构地区：[1]Department of Neurology,Dalian Municipal Central Hospital,Affiliated Hospital of Dalian Medical University

出　　处：《Neural Regeneration Research》2013年第9期833-842,共10页中国神经再生研究（英文版）

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.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.

关 键 词：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 

分 类 号：R596[医药卫生—内科学]