Neuroacanthocytosis in china: a review of published reports.
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.


CONCLUSIONS
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.
Neurologische Klinik, Klinikum der Universität München, 81377 München, Germany.
Jia
J
Liu
Neurologische Klinik, Klinikum der Universität München, 81377 München, Germany.
Benedikt
B
Bader
Neurologische Klinik, Klinikum der Universität München, 81377 München, Germany.
Adrian
A
Danek
China; McLeod syndrome; Neuroacanthocytosis; chorea-acanthocytosis; neurodegeneration with brain iron accumulation