Families | N | QL | BL | Gene locus (mutation) | Vestibular Impairment | MRI | Speech | MMSE |
---|---|---|---|---|---|---|---|---|
A | 6 | 5 | 1 | 17p13 (gene unknown) | Central | cerebellovermial hypoplasia; thin corpus callosum mild cortical atrophy |
Dysarthric; limited vocabulary |
0-2/30 |
B | 3 | 2 | 1 | Unknown (not 17p) | Peripheral | Normal | Dysarthric; few words | 0/30 |
C | 6 | 4 | 2 | 9p24(VLDLR gene) | Normal | Cerebellovermial Hypoplasia; normal corpus callosum, mild cortical atrophy |
Dysarthric; few words or few sounds | 0/30 |
D | 4 | 4 | 0 | 9p24(VLDLR gene) | Unknown | Cerebellovermial hypoplasia | Dysarthric; few words or few sounds | 0/30 |