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 | |
| 11–14 | 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 |
[i] 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.
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
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.