Clinical features of HD-like patients with CAG/CAA repeat expansion in the SCA17/TBP gene (one patient has been described in detail elsewhere16
Pat ID | Number of CAG/CAA repeats | Sex | Family history | Age at onset | Presenting symptom | Dementia | Psychiatric disturbances | Ataxia | Chorea |
---|---|---|---|---|---|---|---|---|---|
AD: autosomal dominant; “not reported” denotes that the clinical data accompanying the blood sample at the date of testing did not mention whether the clinical feature was present or not. As some DNA samples had been collected over 10 years ago, some patients were unavailable for a clinical update. | |||||||||
1 | 34/50 | Male | AD | <45 | Not reported | Not reported | Not reported | Not reported | Not reported |
2 | 37/48 | Female | Not reported | <68 | Not reported | Not reported | Not reported | Not reported | Not reported |
3 | 36/46 | Female | AD | 36 | Not reported | Yes | No | Yes | Yes |
4 | 35/46 | Male | Sporadic | 37 | Psychiatric disturbances | Not reported | Yes | Yes | Yes |
5 | 36/50 | Male | AD | 32 | Dementia | Yes | Yes | Yes | Not reported |
6 | 35/51 | Female | AD | 32 | Focal dystonia | Yes | Yes | Yes | No |
7 | 37/48 | Male | AD | 35? | Dementia | Yes | No | Yes | No |
8 | 35/46 | Male | AD | 38 | Dementia | Yes | No | Yes | Yes |
9 | 40/52 | Male | Not reported | 50 | Hyperkinesia | Not reported | Not reported | Not reported | Not reported |