Fig 1.
Pedigree chart of the Japanese spinocerebellar ataxia type 10 (SCA10) family.
The proband (IV-1) and her mother (III-3) were genotyped and found to carry an expanded ATTCT region (approximately 1,500 repeats) in the SCA10 gene. Squares, males; circles, females; diamond, unknown gender; black fill, affected; gray fill, suspicious case; white fill, unaffected.
Fig 2.
Brain MRI of the proband (IV-1) and her mother (III-3).
T1WI sagittal brain MRI image showings cerebellar atrophy in the proband (IV-1, 39 years old) and her mother (III-3, 65 years old) (A, B). Additionally, T1WI and FLAIR axial images show frontal atrophy with white matter lesions in the mother (III-3) (C, D).
Fig 3.
Fluorescent repeat-primed PCR analysis in SCA10.
Fluorescent repeat-primed PCR analysis of the ATXN10 gene revealed an expanded ATTCT pentanucleotide repeat in the proband (IV-1) and in her mother (III-3).
Fig 4.
Southern blot analysis in SCA10.
Lane 1 is a size marker, lane 2 is a negative control (13/14 repeats), and lanes 3 and 4 are DNA samples from the proband and her mother, respectively. Southern blot analysis shows an SCA10 repeat expansion of approximately 1,500 repeats in the proband (IV-1) and in her mother (III-3). The arrow shows expanded alleles and arrow head shows normal alleles.
Table 1.
Haplotype analysis of single-nucleotide polymorphisms (SNPs) surrounding the SCA10 locus in the proband.