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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

FamilyCaseGeographical distributionMutation 1Mutation 2AAOAAEClinical symptoms and signsReference
11Mainland SEp.Q191Xp.G145=3638Xanthoma; Cerebellar ataxia; Pyramidal signs; Peripheral neuropathyThis study
22Mainland SEp.R405Qp.R479C3740Xanthoma; Cerebellar ataxia; Pyramidal signs; Peripheral neuropathyThis study
33Mainland SEp.R479Cp.R479C630Xanthoma; Cognitive impairment; Pyramidal signs; Cataracts; Chronic diarrhea; EpilepsyThis study
44Mainland SEp.K123 fsp.R127W1232Pyramidal signs;Peripheral neuropathyThis study
55Mainland SEp.T339 Mp.R474W424Pyramidal signs;Cerebellar ataxia; Cognitive impairment; Peripheral neuropathyThis study
66Mainland SEp.M130Kc.1263 + 1G > A2627Pyramidal signs;Peripheral neuropathyThis study
77Mainland SEp.R513Cc.1477-2A > C3348Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment; Peripheral neuropathyChen et al.2017 [16]
78Mainland SEp.R513Cc.1477-2A > CNG43Xanthoma; Pyramidal signs; Cognitive impairmentChen et al.2017 [16]
89Mainland SEp.R137Qp.R137Q3035Xanthoma; Pyramidal signsChen et al.2017 [16]
910Mainland SEp.R137Qp.R127W4244Xanthoma; Pyramidal signsChen et al.2017 [16]
1011Mainland SEp.R188Xp.R405Q3337Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairmentChen et al.2017 [16]
1112Mainland SEp.R127Wp.E392K827Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment; CataractsZhang et al.2016 [22]
1213Mainland Sc.446 + 1G > Tp.T339 M1414Xanthoma; Cerebellar ataxia; Cognitive impairment; CataractsZhong et al.2014 [26]
1314Mainland SEp.T339 Mp.T339 MNG36Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment;Wei et al.2012 [25]
1415Mainland Nc.73-74delGc.369-375delGTACCCA736Xanthoma; Cerebellar ataxia; Pyramidal signs; CataractsTian et al.2011 [18]
1516Taiwanc.205-206delCp.R104WNG42Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment; Peripheral neuropathyChen et al.2011 [20]
1617Mainland Np.R127Wp.R474W2042XanthomaWang et al.2007 [19]
1718Taiwanp.P102Lfsp.P102Lfs642Xanthoma; Pyramidal signsWang et al.2006 [21]
1819Hong kongc.1185-1G > Tp.R372Q748Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment; CataractsMak et al. 2004 [23]
1820Hong kongc.1185-1G > Tp.R372QNG44Xanthoma; Pyramidal signsMak et al. 2004 [23]
1821Hong kongc.1185-1G > Tp.R372QNG50Xanthoma; Pyramidal signs; Cognitive impairment; CataractsMak et al. 2004 [23]
1922Taiwanc.1263 + 1G > Ap.R127WNGNGXanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment;
Cataracts; Peripheral neuropathy
Lee et al.2002 [27]
2023Hong kongUnknownUnknown1634Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment; CataractsKo et al.2001 [24]
2124NGp.G472Ap.G472ANGNGXanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment;
Cataracts; Peripheral neuropathy
Verrips et al. 2000 [14]
2225TaiwanUnknownUnknownNG31Xanthoma; Cerebellar ataxia; Pyramidal signs; Cognitive impairment; CataractsChang et al.1992 [17]
  1. SE Southeast, S South, N North, NG Not given, AAO Age at onset, AAE Age at examination