| 1 | ADS, JS, MTS, TIMM8A |
| Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene. | |
| Tranebjaerg L, Jensen PK, Van Ghelue M, Vnencak-Jones CL, Sund S, Elgjo K, Jakobsen J, Lindal S, Warburg M, Fuglsang-Frederiksen A, Skullerud K. | |
| Ophthalmic Genet 22(4):207-23. 2001 | |
| 2 | ADS, TIMM8A, JS, RENS1 |
| JENSEN syndrome is allelic to MOHR-TRANEBJAERG syndrome and both are caused by stop mutations in the DDP gene. (abstr) | |
| Tranebjaerg L, et al. | |
| Am J Hum Genet 61 : A349. 1997 | |
| 3 | ADS |
| X-linked recessive inheritance of ataxia and adult-onset dementia : clinical features and preliminary linkage analysis. | |
| Farlow MR, et al. | |
| Neurology 37 : 602-607. 1987 | |