Table 1: Locomotion, Genetics, Vestibular Impairment, MRI, Speech, and Minimental State Examination Test Results in UTS Patients from the First Four Families

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

QL: quadrupedal locomotion; BL: bipedal locomotion; MMSE: mini mental-state examination.