| 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 ?? |