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Table 1 Clinical features of patients with FXTAS in the literature

From: A Chinese case of fragile X-associated tremor/ataxia syndrome (FXTAS) with orthostatic tremor:case report and literature review on tremor in FXTAS

CaseSexOnset age (y)Duration (y)Primary diagnosisInitial symptomKinetic TremorIntention tremorPostural tremorRest tremorOrthostatic tremorHead or voice tremorAtaxiaCognitive problemParkinsonismCGG repeatFamily historyRef
1M638ETtremorYNYNNNYYN83PD, FXS, ADHD[1]
2F606NAgaitNYNNNNYYN77/77neurological problem[5]
3M523NAtremorNYNNNNNYN77FXTAS[5]
4F8012NAgaitNYNNNNYYN30/77FXTAS[5]
5M588ETtremorYYYNNNYYN95FXPOI, mental retardation[6]
6M5411NAtremorNYYNNNYYY98FXS,PD[7]
7F688ETtremorNNYNNvoiceYYN31/95–105FXS[8]
8M554Cerebellar atrophygait ataxiaNNNNNNYYY110gait problem, parkinsonism,cognitive[9]
9F544MSAgait ataxiaNNNYNNYNY29/135N[9]
10M5411NAcognitiveYNNYNNYYY297–480Fragile X family[10]
11F4126NAtremorYYYYNheadYNY18/90N[11]
12F3027NAtremorNYNNNNYNN29/93FXS[11]
13F7510NAanxiety depressionNYNNNNYNN29/87FXS[11]
14F5210NAtremorNYNYNNNNN18/90FXS[11]
15F714NAGait, tremorNYNNNNYNY30/78N[11]
16M600.5NAtremor, gaitNANANANANAheadYNNNANA[12]
17M659NAtremorNANANANANANAYNN95N[12]
18F566NAgaitYYNNNNYYN75FXS[13]
19Min late 20sabout 5NAtremorNYYNNNYYN88FXTAS[14]
20M582NAgaitYNNNNNYYN114FXPOI[15]
21M534cerebellar ataxiaataxiaNNNNNNYYN100balance disorder, FXPOI[16]
22M652NAgaitNNNNNNYYY87N[16]
23M688NAGait ataxiaNNNYNNYYY78FXS, FXPOI[17]
24FAbout 65About 5NAgait tremorNNYNNheadYYN95FXS[18]
25Mabout 60About 5NAtremorNYNYNNYYN75FXS[19]
26M620NAcognitiveNANANANANANAYYN59–200N[20]
27M631.5NApersonality changeNNNNNNYYY>  90FXS[20]
28M646NAataxiaNYYNNNYYYmosaic 180–410,FXS[21]
29M614NAtremorNANANANANANAYYN93FXS.[22]
30M4414NAAutonomic
Symptom
NYNNNNYYN20–800 mosaicFXS[23]
31F605NAcognitiveNYYNNheadYYN57N[24]
32M660NAtremorNYNNNNYYY200N[25]
33M4914CMTnumbnessNYNNNNYYN103N[26]
34M586CMTweakness, numbnessNYNNNNYNN72N[26]
35M597NAgait ataxiaNYNNNNYNN116N[26]
36F614NAnumbness painNYNNNNYNN20/79N[26]
37M730NAthrough a family research studyNNNNNNNNN64FXS[26]
38M773NAdiplopiaNYNYNNYYNNAFXS[27]
39M451PDtremorNNNYNNNYY60N[28]
40F7610PDtremorNNNYNNNYY60with mutation of FMR1[28]
41F685PDtremor micrographiaNNNYNNYYY86with mutation of FMR1[28]
42M6012PDbalance problemNNNYNheadNNY64With mutation of FMR1[28]
43M642depressionpathological cryingNNNNNNNYNNAN[29]
44M567ETtremorYNYNNNYNN155tremor[30]
45M504PDtremorYNYYNNYYN109N[31]
46F566NASensation problemNNNNNNYNN88FXS[32]
47M713NAgaitYYNNNNYYN88FXS[33]
48M655NAcognitiveYNNNNNYYN104FXS, FXTAS[33]
49M653NAcognitiveNNNNNNNYN110FXS, FXTAS[33]
50M67NANAunsteadinessYNYNNNNNN57FXS[34]
51M467NAanxietyNNNNNNNNN56FXS[34]
52M612NAfall attackNYNNNNYNN99FXS[34]
53M673NAbalance problemYNNNNNYYY99FXS, FXPOI[4]
54F741NAbalance problemYNNNNNYYY90/29FXS[4]
55F6510Plantar fasciitisgaitNNNYNNYYY88FXPOI, FXTAS[4]
56M773PDgaitYNNYNNYYY68FXS[4]
57F563NAtremorYYYNYNYYY82FXS[35]
58M729NAtremorYNAYYNNYYY85FXS[35]
59M5022NAtremorYYYYNNYYY90with mutation of FMR1[35]
60M659NAcognitiveYNAYYNHead,voiceYYY87FXS[35]
61MNANANANAYNANNNNAYYY110NA[35]
62MNANANANAYNAYYNNAYYY71NA[35]
63FNANANANAYNAYYNNAYYYNANA[35]
64MNANANANAYNAYYYNAYYY100NA[35]
  1. M Male, F Female, PD parkinson’s disease, ET essential tremor, NA not available, CMT Charcot-Marie-Tooth, MSA multiple system atrophy, FXS Fragile X syndrome, FXPOI fragile X-associated primary ovarian insufficienc,Y with the symptom,N without symptom, ADHD autism and attention deficit hyperactivity disorder, FMR1 fragile X mental retardation 1, FXTAS Fragile X-associated tremor/ataxia syndrome