Table 1

Clinical features of SCA28 patients analysed in this study

MutationSexYears at onsetYears at examGait ataxiaLimb ataxiaDysarthriaNystagmusOphthalmoIncreased reflexes in LLPtosisMRI years at exam
M666TF2350+++++++CA and VA: 56.
F664S (p1)M3439++++Mild CA: 37.
F664S (p2)F3065++++++++NANANANA
G671RM4064+++++++++++++CA and VA: 60.
L556fs (p1)M3649++++++++++++++CA: 46; VA: 48.
L556fs (p2)M3554++++++++++CA: 36; VA: 53.
  • Symbols: +,present and mild; ++, present and moderate; +++, present and severe; −, absent; CA, cerebellar atrophy; LL, lower limbs; NA, not available; , ; VA, vermis atrophy.