Reviews

Neuroacanthocytosis in China: A Review of Published Reports

Authors: {'first_name': 'Jia', 'last_name': 'Liu'},{'first_name': 'Benedikt', 'last_name': 'Bader'},{'first_name': 'Adrian', 'last_name': 'Danek'}

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.

Keywords: Neuroacanthocytosischorea-acanthocytosisMcLeod syndromeneurodegeneration with brain iron accumulationChina 
DOI: http://doi.org/10.5334/tohm.226
 Accepted on 21 Jul 2014            Submitted on 6 May 2014

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 kinase-associated 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 Although the clinical manifestations of NA resemble Huntington's disease (HD), there are clear differences in the mode of inheritance and neuropathological changes. In the last decade, molecular and protein methods have rapidly developed for the diagnosis of different NA subtypes.

China has the largest population in the world (1.35 billion), making it a suitable location for investigating rare diseases like NA. The first Chinese NA literature is a translation of the paper by Sakai et al in 1981.4,5 Over the last 30 years, few Chinese NA case reports have been published.653 Moreover, communication with foreign scholars was limited because most of the reports were published in Chinese. ChAc has been reported in many different ethnic groups, and the relatively high prevalence in Japan appears to be due to a founder mutation.54 In light of the similar East Asian backgrounds in the two countries, we suspect that in China NA syndromes are underdiagnosed, leading to a significant underestimation of the prevalence.

In the current study, we systematically reviewed Chinese NA epidemiology by searching for published NA cases. We aimed to summarize the features of Chinese NA cases in comparison with other countries and identify potential reasons for underestimation.

Methods

We searched Medline (from January 1, 1949 to December 31, 2013), ISI Proceedings (January 1, 1990 to December 31, 2013), China National Knowledge Infrastructure (http://www.cnki.net, from January 1, 1979 to December 31, 2013) and Wanfang Data (http://www.wanfangdata.com.cn, from January 1, 1984 to December 31, 2013). The search terms in English and their Chinese equivalents included “neuroacanthocytosis,” “chorea-acanthocytosis,” “McLeod syndrome,” “choreoacanthocytosis,” “hereditary acanthocytosis syndrome,” and “Levine-Critchley syndrome.” We also tried to identify cases from cross-references between papers. We only included those case reports where an explicit diagnosis of NA had been made by the original authors. For inclusion, patients had to be of Chinese origin and diagnosed in China. We extracted information on geographical origin, sex, age of onset, and clinical and laboratory findings from each case.

Results

We identified a total of 48 publications with 66 cases reported (37 males and 29 females) (Table 1). All of these patients had been diagnosed with NA, ChAc, or MLS by the reporting physicians. Only one ChAc case was confirmed by a genetic test (VPS13A gene), and no cases were confirmed by Western blot for the protein chorein that is affected in ChAc.55 An elevated proportion of acanthocytes in blood samples was regarded as the most important diagnostic clue by Chinese physicians. However, heterogeneous methods for detecting acanthocytosis were used in the different reports, thus affecting the accuracy of the test. Only one MLS case, from Hong Kong, was reported with a corresponding XK gene mutation.

Table 1

Baseline Information on NA Cases from China

Ref. Place of Diagnosis Year of Publication No. Cases Sex AOO Initial Symptoms Acanthocytes (%) Reported Diagnosis Our Diagnostic Hypothesis
6 Anhui 1984 2 2M 19, 27 Orof. (1), MD/Orof. (1) 23%, 3% ChAc
7 Anhui 1987 2 2M 26, 32 DYA (1), MD/Orof. (1) 10% ChAc
8 Anhui 2000 2 2F 45, 46 MD (1), PSY (1) 35%, 17% ChAc
9 Anhui 2004 1 1M 39 Orof./MD 4–7% ChAc
10 Beijing 2005 1 1F n.a. MD 4% ChAc
1114 Beijing 2005, 2012 8 2M, 6F 10–35 Orof. (4), MD (3), PN (1) >10% NA
15 Beijing 2007 2 2M 27, 37 MD (1), EPI (1) 15–25% ChAc
16 Beijing 2010 1 1M 11 n.a. 30% NA
17, 18 Beijing 2013 1 1M 42 MD/Orof. >40% NA NBIA
19 Beijing 2013 3 3M 16–43 MD, Orof. (2), BP (1) >30% NA
20 Chongqing 2013 1 1F 33 DYA/WI/MD/Orof. >3% ChAc
21 Gansu 2009 1 1M 20 MD n.a. NA
22 Guangdong 2003 1 1M 42 Orof. 30% ChAc
23 Helongjiang 1989 1 1F 36 DYA/Orof. 15–20% ChAc
24 Helongjiang 1989 2 1M, 1F 9, 11 Orof. 56%, 28% ChAc NBIA
25 Helongjiang 1990 1 1F 38 Orof. 40–50% ChAc
26,27 Helongjiang 2003, 2007 1 1F 35 Orof. 28.5% ChAc
28 He’nan 2005 1 1F 30 Orof./EPI 25% NA
29 He’nan 2011 2 1M, 1F 30, 31 MD (1), Orof. (1) 35%, 25% ChAc
30 He’nan 2012 1 1M 43 MD 11%–15% ChAc
31 Hong Kong 2013 1 1M 47 GD/MD 16% MLS*
32 Hubei 2007 1 1F 28 Orof. 6–8% NA
33 Hubei 2013 1 1M 37 n.a. n.a. NA
34 Hu’nan 2013 1 1F 24 n.a. n.a. ChAc*
35 Jiangsu 2012 1 1F 20 MD/Orof. 7.8% ChAc
36 Liaoning 1989 1 1M 28 Orof. 84% ChAc
37 Neimenggu 2005 1 1M 32 EPI 10% ChAc
38 Neimenggu 2007 1 1M 34 MD 10% ChAc
39 Neimenggu 2012 1 1M 38 Orof. 5% ChAc
40 Qinghai 2006 1 1F 24 MD 18% NA
41 Shandong 2001 3 3F 20–21 MD 12% NA
42 Shandong 2013 1 1M 32 MD/Orof. 10% ChAc
43 Shandong 2013 3 2M, 1F 26–50 MD/Orof. (1), PSY (2) >30% ChAc
44 Shanghai 2008 1 1F 33 MD/Orof. 7–8% ChAc
45 Shanghai 2008 1 1M 5 DYT >30% NA NBIA
46 Shanghai 2010 1 1F 55 WI >20% NA
47 Shanghai 2012 3 2M, 1F 31–74 MD (1), GD (2) 10–28% NA
48 Shanghai 2013 1 1M 46 WI, DYA 44.9% NA
49, 50 Shanxi 2004 3 2M, 1F 26–30 EPI (2), Orof. (1) 12–30% ChAc
51 Sichuan 2012 2 2M 17, 18 Orof. (2) 6%, 6% ChAc
52 Sichuan 1988 1 1M 25 Orof. 4% ChAc
53 Taiwan 2006 1 1F 31 MD 49% NA

Abbreviations: *, Gene Confirmed; AOO, Age of Onset; BP, Blepharospasm; ChAc, Chorea-Acanthocytosis; DYA, Dysarthria; DYT, Dystonia; EPI, Epilepsy; F, Female; GD, Gait Disturbance; M, Male; MD, Movement Disorders (Chorea or Hyperkinetic Movements); MLS, McLeod Syndrome; n.a., Not Available; NA, Neuroacanthocytosis; NBIA, Neurodegeneration with Brain Iron Accumulation (Type I/Type II); No., Number; Orof., Orofacial Dyskinesia; PN, Parkinsonism; PSY, Psychiatric Symptoms; Ref., Reference; WI, Walking Instability.

In the most recent decade (2004 to 2013) the number of reported cases increased dramatically, being about five times the number documented from 1984 to 1993, and seven times the number documented between 1994 and 2003 (Figure 1). No video recordings were published with the publications reviewed in this study. 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. The ages of onset ranged from 5 to 74 years and were concentrated in the third and fourth decades (n  =  37, 56%) (Figure 2). Common initial symptoms were orofacial dyskinesia (n  =  27, 41%) and hyperkinetic limb or trunk movements (n  =  27, 41%). Dysarthria, epilepsy, gait disturbance, parkinsonism, and psychiatric symptoms were also reported as the initial symptoms. Diagnoses were mainly made based on the presence of a hyperkinetic movement disorder, elevated acanthocytes in the blood, the pattern of inheritance (recessive), and the exclusion of other possible diseases, such as HD.

Figure 1 

The Number of Chinese NA Cases Reported in the Last Three Decades.

In the most recent decade (2004 to 2013) the number of reported cases increased dramatically, being about five times the number documented from 1984 to 1993, and seven times the number

Figure 2 

The Distribution of Ages of Onset in Chinese NA Cases.

Among the 63 cases with clearly documented ages of onset, most were concentrated in the third and fourth decades (ages 21 to 40).

Figure 3 summarizes the clinical and laboratory findings reported in Chinese NA cases. The most frequent findings were hyperkinetic movements (n  =  58, 88%). Orofacial dyskinesia was reported in 53 patients (80%). In addition, dystonia (n  =  44, 67%) and dysarthria (n  =  45, 68%) were also common. 10 patients (15%) suffered from epilepsy, and 22 patients (33%) exhibited psychiatric symptoms.

Figure 3 

Clinical and Laboratory Findings in Chinese NA Patients (n  =  66).

Abbreviations: CK, Creatine Kinase Elevation; IMG, Caudate Atrophy or Enlarged Lateral Ventricles on Neuroimaging; LEE, Liver Enzyme Elevation; MD, Movement Disorders (Chorea or Hyperkinetic Movements); NA, Neuroacanthocytosis; Orof., Orofacial Dyskinesia; PSY, Psychiatric Symptoms.

With respect to clinical investigations, caudate atrophy or enlarged lateral ventricles on neuroimaging (n  =  42, 64%) and elevated CK (n  =  34, 52%) were the most frequently reported.

Discussion

Hyperkinetic movements and orofacial dyskinesia were the most common symptoms in this series of Chinese NA cases, reported in 88% and 80% of patients, respectively. This is consistent with the literature in that orofacial dyskinesia appears to be a relatively specific NA symptom, characterized by tongue protrusion and feeding dystonia. Chorea was typical in the early stages and tended to progress to parkinsonism. Parkinsonism has occasionally been reported to be the initial symptom.56,57

We found lower proportions of patients with epilepsy (15%) and psychiatric symptoms (33%) than reported in the literature (50% and 66%, respectively).58,59

In our study, 52% of Chinese NA cases had elevated CK levels, while only 11% of cases exhibited liver enzyme elevation, suggesting that CK is probably a more useful biomarker for NA than acanthocytes or liver enzymes, as is consistent with the literature. However, values within normal ranges are likely to have been omitted in many publications, thus, we could not accurately calculate the proportion of patients with normal CK or liver enzyme levels.58

The number of cases reported for 1994–2003 is relatively low in comparison to the numbers for 1984–1993 and 2004–2013. It is possible that some cases were not reported because they were not recognized or were not thought to be of interest after awareness was originally raised regarding the syndrome. It is important to determine whether these low rates of reported cases are due to publication bias and incomplete documentation, or whether these discrepancies are due to ethnic differences.

The clinical diagnosis of NA in China is mainly based on clinical manifestations and an elevated proportion of acanthocytes in the blood, as well as the exclusion of other possible diseases. Previously this was the standard diagnostic evaluation worldwide (e.g., a Chinese patient diagnosed with ChAc in Singapore in the 1980s).60 Recently, however, there have been clear NA cases without acanthocyte elevation.61

The other forms of NA, such as HDL-2 and PKAN, have not yet been reported in China. However, as some of the NA cases reported had an early age of onset (Table 1), it is likely that PKAN was the correct diagnosis.

With regard to MLS, only one Chinese case has been identified, indicating that it is probably underdiagnosed. Without specific molecular testing, an accurate diagnosis for presumed NA cases is impossible. As an alternative to DNA analyses, chorein detection by Western blot is an inexpensive method for diagnosing ChAc, and Kell antigen phenotyping can be performed to diagnose MLS.55,62

In view of the prevalence of NA syndromes in countries such as the United Kingdom and Germany (approximately 3 in 10 million), the number of NA patients in China should be at least 400 and appears to be underestimated. In addition to raising awareness among Chinese neurologists, the absence of specific molecular tests is the main diagnostic flaw that needs to be addressed. A Chinese network of NA collaboration may improve the diagnosis and treatment for patients affected by this group of incapacitating hyperkinetic movements.

Notes

1 Funding: None. 

2 Financial Disclosures: None. 

3 Conflict of Interests: The authors report no conflict of interest. 

References

  1. Walker, RH, Jung, HH and Danek, A (2011). Neuroacanthocytosis. Handb Clin Neurol 100: 141–151. [PubMed]  

  2. Levine, IM, Estes, JW and Looney, JM (1968). Hereditary neurological disease with acanthocytosis. A new syndrome. Arch Neurol 19: 403–409. [PubMed]  

  3. Critchley, EM, Clark, DB and Wikler, A (1967). An adult form of acanthocytosis. Trans Am Neurol Assoc 92: 132–137. [PubMed]  

  4. Zhou, XF (1981). Choreoacanthocytosis. Clues to clinical diagnosis (in Chinese). J Chin PLA Postgrad Med Sch S2: 5–6.  

  5. Sakai, T, Mawatari, S, Iwashita, H, Goto, I and Kuroiwa, Y (1981). Choreoacanthocytosis. Clues to clinical diagnosis. Arch Neurol 38: 335–338. [PubMed]  

  6. Yang, RM, Bao, YZ and Chen, WD (1984). Two cases of chorea-acanthocytosis (in Chinese). New Chinese Medicine 15: 28–29.  

  7. Yang, RM, Chen, WD and Lou, ZP (1987). A family of chorea-acanthocytosis (in Chinese). Chin J Nerv Mental Dis 5: 311–312.  

  8. Sun, HT (2000). Two cases of chorea-acanthocytosis (in Chinese). Chin J Neurol 33: 134. 

  9. Yang, RM, Yu, XE, Li, K and Hou, HX (2004). One case of chorea-acanthocytosis and review (in Chinese). Chin Clin Neurosci 12: 290–293.  

  10. Bo, L, Li, YM and Liu, FH (2005). Care for one case of chorea-acanthocytosis (in Chinese). Chin J Prac Nurs 21: 54–55.  

  11. Zhou, XQ Gua, HZ Shi, XS et al. (2012). Clinical, laboratory and neuroimaging characteristics of neuroacanthocytosis (in Chinese). Chin J Neurol 45: 112–115.  

  12. Zhou, LX, Guan, HZ, Ni, J, Wan, XH, Chen, L and Cui, LY (2011). Progressive involuntary movements in mouth tongue and limbs (in Chinese). Chin J Contemp Neurol Neurosurg 11: 117–120.  

  13. Liu, CY, Gao, J, Yang, YC, Cui, LY, Wan, XH and Ge, CW (2005). Chorea-acanthocytosis (in Chinese). Chin J Contemp Neurol Neurosurg 5: 175–178.  

  14. Wei, YP Wan, XH Gao, J et al. (2005). Clinical and neuropathological study of three neuroacanthocytosis cases (in Chinese). Chin J Neurol 38: 712–713.  

  15. Zhou, H, Zhang, XH and Sun, YL (2007). Report of two chorea-acanthocytosis cases (in Chinese). Chin J Neuroimmun Neurol 14: 297–299.  

  16. Hu, YH, Wang, HJ and Dong, S (2010). Perioperative nursing of a patient with neuroacanthocytosis (in Chinese). Chin J Nurs 45: 413–415.  

  17. Zhao, XP, Tang, LY, Chen, F, Wei, YZ, Yin, WM and Zhang, WW (2013). One case report of neuroacanthocytosis (in Chinese). Beijing Med J 35: 407–408.  

  18. Wu, HW (2013). Experience of clinical nursing for one case of chorea-acanthocytosis (in Chinese). Modern Journal of Integrated Traditional Chinese and Western Medicine 22: 668–669.  

  19. Xu, EH, Xue, XF, Wang, XL, Xuang, XQ and Jia, JP (2013). Clinical investigation of neuroacanthocytosis with the report of three cases (in Chinese). Chin J Intern Med 52: 760–762.  

  20. Xie, SJ, Hu, J, Chen, KN and Shi, SG (2013). One case of chorea-acanthocytosis (in Chinese). J Third Mil Med Univ 35: 2045–2050.  

  21. Tang, X (2009). One case of neuroacanthocytosis (in Chinese). Chin Gen Pract 12: 2062. 

  22. Zhang, WX, Li, JR, Yang, SL, Zhang, XZ, An, YH and Chen, HZ (2003). Case report of chorea-acanthocytosis (in Chinese). Chin J Neurol 36: 331. 

  23. Zheng, BR, Han, H, Qi, ZZ and Wang, DS (1989). A case report of chorea-acanthocytosis (in Chinese). Harbin Medical University Bulletin 23: 126–127.  

  24. Zhang, JB, Gong, LM, Dai, JC and Han, H (1989). Two case-reports of chorea-acanthocytosis (in Chinese). Harbin Medical University Bulletin 23: 285. 

  25. Yang, AY and Liang, YQ (1990). One case report of chorea-acanthocytosis (in Chinese). Medic J Indust Enterpr 1: 48. 

  26. Qu, SB, Liu, LR, Sheng, L and Li, GL (2003). One case of Chorea-acanthocytosis (in Chinese). Chin J Med Genet 20: 176. 

  27. Qu, SB, Liu, LR, Sheng, L and Li, GL (2007). Chorea-acanthocytosis presenting with elevated prolactin. Case report. IMJM 6: 1–5.  

  28. Wang, ZM and Cao, YY (2005). One case of neuroacanthocytosis, misdiagnosed as obsessive compulsive disorder (in Chinese). Chin J Psychiatry 38: 26. 

  29. Zhang, AL and Zhao, XY (2011). Chorea-acanthocytosis: a clinical report of two cases (in Chinese). Chin J Neuromed 10: 73–75.  

  30. Ma, CM, Han, YZ and Wang, HL (2012). One case report of chorea-acanthocytosis (in Chinese). Chin J Prac Nerv Dis 15: 96. 

  31. Man, BL, Yuen, YP, Yip, SF and Ng, SH (2013). The first case report of McLeod syndrome in a Chinese patient. BMJ Case Rep, pii:bcr2013200205. 

  32. Zhao, H and Mao, SP (2007). One case report of neuroacanthocytosis (in Chinese). Stroke Nerv Dis 14: 318–319.  

  33. Long, X Xiong, N Zhu, Q et al. (2013). The combination of SPECT-CT and functional MR imaging in the diagnosis of neuroacanthocytosis (abstract). Mov Disord 28(Suppl 1): 715. [PubMed]  

  34. Chen, Z Wang, JL Tang, BS et al. (2013). Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders. Neurobiol Aging 34: 2442.e11–7.  

  35. Zhao, H, Wang, C and Niu, FN (2012). One case of chorea-acanthocytosis and review (in Chinese). Chin J Diffic and Compl Cas 11: 63–64.  

  36. Dong, GF, Bao, LP, Jin, N, Gong, ZL and Lei, ZL (1989). One case of chorea-acanthocytosis (in Chinese). Chin J Prac Int Med 9: 310. 

  37. Luo, YC and Zhao, B (2005). Epilepsy-onset in chorea-acanthocytosis (in Chinese). Brain Neurol Dis J 13: 449. 

  38. Sa ru la, B, Yuan, J and Zhu, RX (2007). One case of chorea-acanthocytosis (in Chinese). Inner Mongolia Med J 39: 1010. 

  39. Jia, RP, Zhao, XY, Xu, N, Bai, XH and Zhang, LJ (2012). One case of chorea-acanthocytosis syndrome and literature review (in Chinese). Clinical Focus 27: 1913–1914.  

  40. Zeng, GX (2006). One case of neuroacanthocytosis and review (in Chinese). Chin J Diffic and Compl Cas 5: 220. 

  41. Liu, SP Li, DN Wang, SZ et al. (2001). Familial neuroacanthocytosis (in Chinese). Chin J Neurol 34: 16–18.  

  42. Luan, HH, Liu, YM, Zhang, JY, Chen, L, Li, JH and Zhang, XG (2013). Clinical features of chorea-acanthocytosis complicated with chronic active hepatitis (report of one case) (in Chinese). J Clin Neurol 26: 372–374.  

  43. Shan, PY, Meng, YY, Yu, XL, Liu, SP and Li, DN (2013). Cognitive disorders and neuropsychiatric behaviors in chorea-acanthocytosis (in Chinese). Chin J Neurol 46: 769–772.  

  44. Chen, W, Wang, WA and Liu, ZG (2008). One case of chorea-acanthocytosis and review (in Chinese). Chin J Prac Int Med 28: 890–891.  

  45. Jiang, YP and Zhou, Y (2008). Case discussion of generalized dystonia in children (in Chinese). Chin Clin Neurosci 16: 562–564.  

  46. Jiang, YP (2010). Case discussion of late-onset cerebellar ataxia (in Chinese). Chin Clin Neurosci 18: 223–224.  

  47. Zhang, QY Wang, YG Jiang, YP et al. (2012). Ataxia-neuroacanthocytosis (3 cases report) (in Chinese). Chin Clin Neurosci 20: 18–23.  

  48. Ling, L (2013). Cerebellar ataxia in a case of neuroacanthocytosis (in Chinese). Journal of Sichuan of Traditional Chinese Medicine 31: 82–83.  

  49. Cui, AQ, Li, YB, Liu, XX, Chen, YP, Li, DR and Xu, JL (2004). Three cases in a family of hereditary chorea-acanthocytosis (in Chinese). Chin J Med Genet 5: 421. 

  50. Cui, AQ, Li, YB, Liu, SP, Chen, YP, Li, DR and Xu, JL (2005). Hereditary chorea-acanthocytosis (in Chinese). Journal of Shanxi Medical University 36: 93–95.  

  51. Li, P Huang, R Song, W et al. (2012). Deep brain stimulation of the globus pallidus internal improves symptoms of chorea-acanthocytosis. Neurol Sci 33: 269–274. [PubMed]  

  52. He, SL and Zhang, Y (1988). One case of chorea-acanthocytosis (in Chinese). Chin J Postgrad Med 11: 26. 

  53. Lin, FC, Wei, LJ and Shih, PY (2006). Effect of levetiracetam on truncal tic in neuroacanthocytosis. Acta Neurol Taiwan 15: 38–42. [PubMed]  

  54. Jung, HH, Danek, A and Walker, RH (2011). Neuroacanthocytosis syndromes. Orphanet J Rare Dis 6: 68. [PubMed]  

  55. Dobson-Stone, C Velayos-Baeza, A Filippone, LA et al. (2004). Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol 56: 299–302. [PubMed]  

  56. Bostantjopoulou, S, Katsarou, Z, Kazis, A and Vadikolia, C (2000). Neuroacanthocytosis presenting as parkinsonism. Mov Disord 15: 1271–1273. [PubMed]  

  57. Bader, B, Walker, RH, Vogel, M, Prosiegel, M, McIntosh, J and Danek, A (2010). Tongue protrusion and feeding dystonia: a hallmark of chorea-acanthocytosis. Mov Disord 25: 127–129. [PubMed]  

  58. Bader, B, Danek, A and Walker, RH (2011). Chorea-acanthocytosis. Walker, RH ed.  The differential diagnosis of chorea. New York: Oxford University Press, pp. 122–148.  

  59. Scheid, R, Bader, B, Ott, DV, Merkenschlager, A and Danek, A (2009). Development of mesial temporal lobe epilepsy in chorea-acanthocytosis. Neurology 73: 1419–1422. [PubMed]  

  60. Ong, B, Devathasan, G and Chong, PN (1989). Choreoacanthocytosis in a Chinese patient: a case report. Singapore Med J 30: 506–508. [PubMed]  

  61. Bayreuther, C, Borg, M, Ferrero-Vacher, C, Chaussenot, A and Lebrun, C (2010). Chorea-acanthocytosis without acanthocytes (in French). Rev Neurol (Paris) 166: 100–103. [PubMed]  

  62. Danek, A Rubio, JP Rampoldi, L et al. (2001). McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 50: 755–764. [PubMed]