Clinical and molecular research of neuroacanthocytosis

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. Psyc...

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Published in:	Neural regeneration research Vol. 8; no. 9; pp. 833 - 842
Main Authors:	Zhang, Lihong, Wang, Suping, Lin, Jianwen
Format:	Journal Article
Language:	English
Published:	India Medknow Publications and Media Pvt. Ltd 25-03-2013 Medknow Publications & Media Pvt. Ltd Department of Neurology, Dalian Municipal Central Hospital, Affiliated Hospital of Dalian Medical University, Dalian 116033, Liaoning Province, China Medknow Publications & Media Pvt Ltd
Subjects:	Age Atrophy Basic Research in Neural Regeneration Biopsy Brain research Cardiomyopathy Degeneration Gene mutations Genomics Kinases Mutation Nervous system Pathogenesis Patients Proteins Twins 临床表现分子外周神经系统常染色体检查结果神经退行性疾病综合征遗传性疾病 extrapyramidal disease McLeod syndrome neuroacanthocytosis neurodegenerative disease photographs-containing paper features of inheritance neural regeneration clinical manifestations reviews neuroregeneration pantothenate kinase-associated neurodegeneration chorea-acanthocytosis Huntington's disease-like 2 extrapyra
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Summary:	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.
Bibliography:	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. 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 11-5422/R ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Author contributions: Lihong Zhang was responsible for the data acquisition, study concept/design, and manuscript development. Suping Wang and Jianwen Lin participated in the data acquisition and manuscript review. All authors approved the final version of the paper. Author statements: The manuscript is original, has not been submitted to or is not under consideration by another publication, has not been previously published in any language or any form, including electronic, and contains no disclosure of confidential information or authorship/patent application disputations.
ISSN:	1673-5374 1876-7958
DOI:	10.3969/j.issn.1673-5374.2013.09.008