| CHARACTHERISTICS | DES-H | CAYMAN | UNER TAN SYNDROME |
|---|---|---|---|
| Genetics Chromosomes Genes |
9p24 VLDLR |
19p13.3 ATCAY |
Heterogeneous: 17p13, 9p24 (or not) |
| Cong. Hypotonia | Yes | Yes | No |
| Quadrupedalism | No | No | Yes |
| Truncal ataxia | Yes | Yes | Yes |
| Dysarthria | Severe | Severe | Severe (no speech in 3/4 families) |
| Mental retardation | Mild to severe | Mild to severe | Profound |
| MRI Cerebellum Vermis Corpus callosum Cerebral cortex |
Hypoplasia Hypoplasia Normal Gyral simplification |
Hypoplasia Hypoplasia Unknown Gyral simplification |
Hypoplasia (13/14) Hypoplasia Thin in 5, normal in 9 Gyral simplification |
| PET Scan | Unknown | Unknown | Decreased glucose metabolic rate in cerebello-vermial areas and cortex; normal in one patient |
| Reflexes Upper extremity Lower |
Normal Hyperactive |
Unknown |
Vivid or normal Hyperactive |
| Intention tremor | Present | Present | Present only in 1 of 4 families |
| Nystagmus | Present | Present | Present in 3 of 4 families |
| Muscle power | Decreased | Decreased | Increased |
| Babinsky | Positive (8%) | Not reported | Positive (42%) |
| Basal ganglia | Not reported | Normal | Normal |
| Hippocampus | Normal | Normal | Normal |
| N. dentatus | Not reported | Normal | Normal |
| Vestibular system | Unknown | Unknown | Central, peripheral or normal |