Neuroacanthocytosis in China: A Review of Published Reports

Jia Liu,Adrian Danek,Benedikt Bader

doi:10.5334/tohm.226

Jia Liu, Adrian Danek + Show 1 more

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https://doi.org/10.5334/tohm.226

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Abstract

Background: 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. Methods: 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. Results: 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. Discussion: 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.

Highlights

Neuroacanthocytosis (NA), an umbrella term for a group of rare diseases characterized by misshapen erythrocytes and neuronal multisystem pathology, includes diseases such as autosomal recessive chorea-acanthocytosis (ChAc), X-linked McLeod syndrome (MLS), Huntington’s disease-like 2 (HDL-2), and pantothenate kinaseassociated neurodegeneration (PKAN).[1]
With respect to the geographic distribution, all cases originated from 19 Chinese provinces, with 16 cases reported in Beijing, 7 cases from Anhui, and 7 cases from Shangdong as the top 3 provinces
Dysarthria, epilepsy, gait disturbance, parkinsonism, and psychiatric symptoms were reported as the initial symptoms

Summary

Introduction

Neuroacanthocytosis (NA), an umbrella term for a group of rare diseases characterized by misshapen erythrocytes (acanthocytes) and neuronal multisystem pathology, includes diseases such as autosomal recessive chorea-acanthocytosis (ChAc), X-linked McLeod syndrome (MLS), Huntington’s disease-like 2 (HDL-2), and pantothenate kinaseassociated neurodegeneration (PKAN).[1] NA was first described as Levine-Critchley syndrome on the basis of reports by Levine and Critchley in two families from North America in the 1960s.2,3. China has the largest population in the world (1.35 billion), making it a suitable location for investigating rare diseases like NA. 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). Chinese NA patients may benefit from the establishment of networks that offer specific diagnoses and care for rare diseases

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Results

Conclusion