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 IDNumber of CAG/CAA repeatsSexFamily historyAge at onsetPresenting symptomDementiaPsychiatric disturbancesAtaxiaChorea
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.
134/50MaleAD<45Not reportedNot reportedNot reportedNot reportedNot reported
237/48FemaleNot reported<68Not reportedNot reportedNot reportedNot reportedNot reported
336/46FemaleAD36Not reportedYesNoYesYes
435/46MaleSporadic37Psychiatric disturbancesNot reportedYesYesYes
536/50MaleAD32DementiaYesYesYesNot reported
635/51FemaleAD32Focal dystoniaYesYesYesNo
940/52MaleNot reported50HyperkinesiaNot reportedNot reportedNot reportedNot reported