Table 1

Results of sequencing and haplotype analysis in 13 patients from seven SCA2 families

FamilyCaseRelation to other casesRepeat sizeConfig of polyD12S84D12S105D12S1672D12S1333D12S354D12S79
A1 MFather of A-237, 37Normal1024738
2 FProband44Normal1024738
B1 FProband51, 53Normal8 or 101 or 22 or 32 or 662 or 3
C1 FProband43, 44, 46Normal9 or 101 or 21 or 25 or 64 or 63 or 5
D1 FOlder sister of D-237CCG822215
2 FProband41, 42CCG822215
E1 MFather of E-237, 37, 37CCG322213 or 7
2 MProband44CCG322213 or 7
F1 FOlder sister of F-241CCGCCG722265
2 MUncle of F-342, 42, 43CCGCCG722265
3 FProband51, 51CCGCCG722265
G1 FOlder sister of G-237, 38, 40CCGCCG7222 or 63 or 65
2 MProband36CCGCCG7222 or 63 or 65
  • Repeat size means the number of long CAG repeats in each subclone of the expanded alleles.

  • Config of poly: configuration of polymorphisms. F: female. M: male.