Chinese Medical Sciences Journal ›› 2018, Vol. 33 ›› Issue (1): 53-59.doi: 10.24920/21802
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Progress in the Diagnosis and Management of Chorea-acanthocytosis
Liu Yang1, Liu Ziyuan1, Wan Xinhua2, Guo Yi1, *(
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- 1 Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
2 Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
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Received:2017-07-31Published:2018-02-13Online:2018-02-13 -
Contact:Guo Yi E-mail:guoyi@pumch.cn
Cite this article
Liu Yang,Liu Ziyuan,Wan Xinhua,Guo Yi. Progress in the Diagnosis and Management of Chorea-acanthocytosis[J].Chinese Medical Sciences Journal, 2018, 33(1): 53-59.
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| References | Number of cases (n) | Acanthocyte count | MRI | VPS13 mutation | Disease course (yrs) | Frequency of stimulation | Functional outcomes |
|---|---|---|---|---|---|---|---|
| Fernandez- Pajorin et al[ | 1 | 7% | Asymmetric lateral ventricles | (+) | 13 | low (60 Hz) | UHDRS (motor) [preop. 39 to 13 (1 year postop.)] |
| Lee et al[ | 1 | 21% | Bilateral atrophy of caudate nuclei and putamen | (+) | 3 | high (130 Hz) | UHDRS (motor) [preop. 59 to 36 (2 months postop.) and to 34 (1 year postop.)] |
| Lim et al[44],b | 1 | ↑ | Asymmetric atrophy of caudate nuclei and putamen | N/A | 6 | low (60 Hz) | AIMS [preop. 20 to 12 (2 months postop.) and to 10 (8 months postop.)] |
| Miquel et al[34],a | 3 | ↑ | 2 with caudate nuclei atrophy, 1 with normal MRI | 1 case (+), 2 cases N/A | 6-7 | high (140-185 Hz) | UHDRS (motor) (a mean improvement of 50% from 1 to 5 months postop. and 40% improvement for >6 months postop.) |
| Kefalopoulou et al[45], c | 2 | ↑ | Caudate nuclei atrophy | N/A | N/A | high (130 Hz) | UHDRS (motor) (case 1 from 40 to 23, case 2 from 74 to 50), (chorea sub-score: case 1 from 8 to 1, case 2 from 24 to 8) |
| Shin et al[ | 1 | 20% | Bilateral atrophy of caudate nuclei and putamen | (+) | 4 | high (130 Hz) | UHDRS (motor) [preop. 44 to 13 (2 months postop.)] |
| Li et al[47], b | 2 | 6% | Bilateral caudate nuclei atrophy | N/A | 12 | low (60 Hz) | UHDRS (motor) (case 1 from 36 to 13, case 2 from 53 to 26) |
| Ruiz et al[48], b | 1 | 20% | Bilateral dilation of lateral ventricles and atrophy of caudate nuclei | N/A | 11 | high (130 Hz) | UHDRS (motor) [preop. 24 to 14 (2 months postop.)] |
| Wihl et al[49], d | 1 | 25% | Bilateral dilation of lateral ventricles and atrophy of caudate nuclei | N/A | 3 | low (10-50 Hz) & high (130-1000 Hz) | No improvements |
| Guehl et al[ | 1 | 10% | N/A | (+) | 8 | low (40 Hz) & high (130 Hz) | UHDRS (motor) [preop. 13.5 to 9.5 (low frequency) and 18 (high frequency) postop.] |
| Burbaud et al[ | 1 | ↑ | Bilateral atrophy of caudate nuclei and putamen | (+) | 12 | high (160 Hz) | MSCRS [preop. 54 to 34 (3 months postop.)] |
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