Table 2 Clinical and genetic features of patients with cerebrotendinous xanthomatosis in the Chinese population
From: Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis
Family | Case | Geographical distribution | Mutation 1 | Mutation 2 | AAO | AAE | Clinical symptoms and signs | Reference |
|---|---|---|---|---|---|---|---|---|
1 | 1 | Mainland SE | p.Q191X | p.G145= | 36 | 38 | Xanthoma; Cerebellar ataxia; Pyramidal signs; Peripheral neuropathy | This study |
2 | 2 | Mainland SE | p.R405Q | p.R479C | 37 | 40 | Xanthoma; Cerebellar ataxia; Pyramidal signs; Peripheral neuropathy | This study |
3 | 3 | Mainland SE | p.R479C | p.R479C | 6 | 30 | Xanthoma; Cognitive impairment; Pyramidal signs; Cataracts; Chronic diarrhea; Epilepsy | This study |
4 | 4 | Mainland SE | p.K123 fs | p.R127W | 12 | 32 | Pyramidal signs;Peripheral neuropathy | This study |
5 | 5 | Mainland SE | p.T339 M | p.R474W | 4 | 24 | Pyramidal signs;Cerebellar ataxia; Cognitive impairment; Peripheral neuropathy | This study |
6 | 6 | Mainland SE | p.M130K | c.1263 + 1G > A | 26 | 27 | Pyramidal signs;Peripheral neuropathy | This study |
7 | 7 | Mainland SE | p.R513C | c.1477-2A > C | 33 | 48 | Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment; Peripheral neuropathy | Chen et al.2017 [16] |
7 | 8 | Mainland SE | p.R513C | c.1477-2A > C | NG | 43 | Xanthoma; Pyramidal signs; Cognitive impairment | Chen et al.2017 [16] |
8 | 9 | Mainland SE | p.R137Q | p.R137Q | 30 | 35 | Xanthoma; Pyramidal signs | Chen et al.2017 [16] |
9 | 10 | Mainland SE | p.R137Q | p.R127W | 42 | 44 | Xanthoma; Pyramidal signs | Chen et al.2017 [16] |
10 | 11 | Mainland SE | p.R188X | p.R405Q | 33 | 37 | Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment | Chen et al.2017 [16] |
11 | 12 | Mainland SE | p.R127W | p.E392K | 8 | 27 | Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment; Cataracts | Zhang et al.2016 [22] |
12 | 13 | Mainland S | c.446 + 1G > T | p.T339 M | 14 | 14 | Xanthoma; Cerebellar ataxia; Cognitive impairment; Cataracts | Zhong et al.2014 [26] |
13 | 14 | Mainland SE | p.T339 M | p.T339 M | NG | 36 | Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment; | Wei et al.2012 [25] |
14 | 15 | Mainland N | c.73-74delG | c.369-375delGTACCCA | 7 | 36 | Xanthoma; Cerebellar ataxia; Pyramidal signs; Cataracts | Tian et al.2011 [18] |
15 | 16 | Taiwan | c.205-206delC | p.R104W | NG | 42 | Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment; Peripheral neuropathy | Chen et al.2011 [20] |
16 | 17 | Mainland N | p.R127W | p.R474W | 20 | 42 | Xanthoma | Wang et al.2007 [19] |
17 | 18 | Taiwan | p.P102Lfs | p.P102Lfs | 6 | 42 | Xanthoma; Pyramidal signs | Wang et al.2006 [21] |
18 | 19 | Hong kong | c.1185-1G > T | p.R372Q | 7 | 48 | Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment; Cataracts | Mak et al. 2004 [23] |
18 | 20 | Hong kong | c.1185-1G > T | p.R372Q | NG | 44 | Xanthoma; Pyramidal signs | Mak et al. 2004 [23] |
18 | 21 | Hong kong | c.1185-1G > T | p.R372Q | NG | 50 | Xanthoma; Pyramidal signs; Cognitive impairment; Cataracts | Mak et al. 2004 [23] |
19 | 22 | Taiwan | c.1263 + 1G > A | p.R127W | NG | NG | Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment; Cataracts; Peripheral neuropathy | Lee et al.2002 [27] |
20 | 23 | Hong kong | Unknown | Unknown | 16 | 34 | Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment; Cataracts | Ko et al.2001 [24] |
21 | 24 | NG | p.G472A | p.G472A | NG | NG | Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment; Cataracts; Peripheral neuropathy | Verrips et al. 2000 [14] |
22 | 25 | Taiwan | Unknown | Unknown | NG | 31 | Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment; Cataracts | Chang et al.1992 [17] |