GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
DDP (TIMM8A) Ataxia-Dementia Syndrome?   insTGA noncoding N/A(1) Tranebjaerg ??
             
  DFN1 = Mohr-Tranebjaerg   108delG* exon 1 N/A (1) Swerdlow 2001
      *female carriers has mild phenotype      
      151delT exon 1 Norway (1) Jin 1996
      183del10 exon 2 N/A (1) Jin 1996
    C66W 233C>G exon 2 Dutch (1) Tranebjaerg 2000
    complete deletion     N/A (1) Jin 1996
             
  Jensen Syndrome E24X G105T exon 1 N/A (1) Tranebjaerg ??