Table 1 Summary of the clinical and molecular features of the reported cases with Dysequilibrium Syndrome- VLDLR type
Boycott et al. 2005 [[4]] | Moheb et al. 2008 [[8]] | Turkman et al. 2008 [[6]] | Ozcelik et al. 2008 [[5]] | Ozcelik et al. 2008 [[5]] | Boycott et al. 2009 [[9]] | Kolb et al. 2010 [[13]] | This report Family 1 | This report Family 2 | |
|---|---|---|---|---|---|---|---|---|---|
General | |||||||||
No. of patients | 10 | 8 | 3 | 5 | 3 | 1 | 2 | 4 | 1 |
Ethnicity | Hutterite | Iranian | Turkish | Turkish | Turkish | Caucasian | Turkish | UAE (Omani) | UAE (Omani) |
Consanguinity | + | + | + | + | + | - | + | + | + |
VLDLR mutation | Homozygous deletion of entire gene | Homozygous c.1342C>T (p.R448X) | Homozygous c.2339delT (p.I780TfsX3) | Homozygous c.769C.T (p.R257X) | Homozygous c.2339delT (p.I780TfsX3) | Compound heterozygous c.1561G>C + c.1711-1712dupT (p.D521H + p.Y571LfsX7) | Homozygous deletion of exons 2, 3, 4 and parts of exons 1 and 5 | Homozygous c.2117G>T (p.C706F) | Homozygous c.2117G>T (p.C706F) |
Clinical | |||||||||
Mental retardation | Moderate-Profound | Moderate-Profound | Moderate-Profound | Profound | Profound | Developmental Delay | Developmental delay | Moderate | Moderate |
Hypotonia in infancy | ? | ? | ? | - | - | + | + | + | + |
Ambulation | Delayed | - | Delayed | Delayed | Delayed | Delayed | Delayed | Delayed | Delayed |
Gait | Bipedal | Bipedal | Quadrupedal | Quadrupedal | Quadrupedal | Bipedal | Bipedal | Bipedal | Bipedal |
Truncal ataxia | + | ? | + | + | + | + | + | + | + |
Dysarthric Speech | + | ? | + | + | + | ? | + | No Speech | No Speech |
Seizure | +/- | - | ? | +/- | - | - | - | - | - |
Strabismus | +/- | + | ? | + | + | - | - | +/- | + |
Neuroimaging | |||||||||
Absent inferior vermis | + | ? | + | + | + | + | + | + | + |
Hypoplastic inferior-cerebellum | + | ? | + | + | + | + | + | + | + |
Simplified cortical gyri | + | ? | + | + | + | + | + | + | + |