Neuroacanthocytosis in China: A Review of Published Reports

<p><strong>Background</strong>: Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by the presence of acanthocytes and neuronal multisystem pathology, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL-2),...

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Main Authors: Jia Liu, Benedikt Bader, Adrian Danek
Format: Article
Language:English
Published: Ubiquity Press 2014-11-01
Series:Tremor and Other Hyperkinetic Movements
Online Access:https://tremorjournal.org/index.php/tremor/article/view/248
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spelling doaj-63965d9f745749859250c14490d547f62021-04-02T16:53:35ZengUbiquity PressTremor and Other Hyperkinetic Movements2160-82882014-11-01410.7916/D8Q23XDX188Neuroacanthocytosis in China: A Review of Published ReportsJia Liu0Benedikt Bader1Adrian Danek2Neurologische Klinik, Klinikum der Universität München, 81377 München, GermanyNeurologische Klinik, Klinikum der Universität München, 81377 München, GermanyNeurologische Klinik, Klinikum der Universität München, 81377 München, Germany<p><strong>Background</strong>: Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by the presence of acanthocytes and neuronal multisystem pathology, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL-2), and pantothenate kinase-associated neurodegeneration (PKAN). China has the largest population in the world, which makes it a good location for investigating rare diseases like NA.</p><p><strong> Methods</strong>: We searched Medline, ISI Proceedings, China National Knowledge Infrastructure, and Wanfang Data for literature published through December 31, 2013 for all the published Chinese NA case reports and extracted the clinical and laboratory findings.</p><p><strong>Results</strong>: A total of 42 studies describing 66 cases were found to be eligible for inclusion. Age of symptom onset ranged from 5 to 74 years. The most common findings included hyperkinetic movements (88%), orofacial dyskinesia (80%), dystonia (67%), and dysarthria (68%), as well as caudate atrophy or enlarged lateral ventricles on neuroimaging (64%), and elevated creatine kinase (52%). Most cases were not confirmed by any specific molecular tests. Only two cases were genetically studied and diagnosed as ChAc or MLS.</p><p><strong>Discussion</strong>: In view of the prevalence of NA syndromes in other countries, the number of patients in China appears to be underestimated. Chinese NA patients may benefit from the establishment of networks that offer specific diagnoses and care for rare diseases.</p>https://tremorjournal.org/index.php/tremor/article/view/248
collection DOAJ
language English
format Article
sources DOAJ
author Jia Liu
Benedikt Bader
Adrian Danek
spellingShingle Jia Liu
Benedikt Bader
Adrian Danek
Neuroacanthocytosis in China: A Review of Published Reports
Tremor and Other Hyperkinetic Movements
author_facet Jia Liu
Benedikt Bader
Adrian Danek
author_sort Jia Liu
title Neuroacanthocytosis in China: A Review of Published Reports
title_short Neuroacanthocytosis in China: A Review of Published Reports
title_full Neuroacanthocytosis in China: A Review of Published Reports
title_fullStr Neuroacanthocytosis in China: A Review of Published Reports
title_full_unstemmed Neuroacanthocytosis in China: A Review of Published Reports
title_sort neuroacanthocytosis in china: a review of published reports
publisher Ubiquity Press
series Tremor and Other Hyperkinetic Movements
issn 2160-8288
publishDate 2014-11-01
description <p><strong>Background</strong>: Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by the presence of acanthocytes and neuronal multisystem pathology, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL-2), and pantothenate kinase-associated neurodegeneration (PKAN). China has the largest population in the world, which makes it a good location for investigating rare diseases like NA.</p><p><strong> Methods</strong>: We searched Medline, ISI Proceedings, China National Knowledge Infrastructure, and Wanfang Data for literature published through December 31, 2013 for all the published Chinese NA case reports and extracted the clinical and laboratory findings.</p><p><strong>Results</strong>: A total of 42 studies describing 66 cases were found to be eligible for inclusion. Age of symptom onset ranged from 5 to 74 years. The most common findings included hyperkinetic movements (88%), orofacial dyskinesia (80%), dystonia (67%), and dysarthria (68%), as well as caudate atrophy or enlarged lateral ventricles on neuroimaging (64%), and elevated creatine kinase (52%). Most cases were not confirmed by any specific molecular tests. Only two cases were genetically studied and diagnosed as ChAc or MLS.</p><p><strong>Discussion</strong>: In view of the prevalence of NA syndromes in other countries, the number of patients in China appears to be underestimated. Chinese NA patients may benefit from the establishment of networks that offer specific diagnoses and care for rare diseases.</p>
url https://tremorjournal.org/index.php/tremor/article/view/248
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