GLUT1 deficiency syndrome (G1D) most often causes infantile-onset refractory epilepsy, cognitive impairment and motor abnormalities (ataxia, dystonia, chorea or dyskinesia) [ 1- 4].
Mice deficient for Purkinje cell-specific Mof display impaired motor coordination, ataxia, a backward-walking phenotype, and a reduced life span, similar to A-T.
SCN1A knockout or -in animal models of Dravet syndrome manifest spontaneous seizures, motor deficits, ataxia and premature death (Yu et al., 2006; Kalume et al., 2007; Ogiwara et al., 2007; Tang et al., 2009; Martin et al., 2010).
Motor neuropathy, ataxia, and dysphasia were observed in a total of six patients (13%) at doses between 45 and 72 mg m−2 Cand and were of short duration, lasting a couple of minutes to a few hours.
A purkinje cell-specific conditional Mof knock out mouse displayed impaired motor coordination, ataxia, a backward-walking phenotype, and a reduced life span and some of these phenotypes were very similar to the cerebellar dysfunction observed in Ataxia-telangiectasia (AT) patients [ 53].
Further deterioration leads to severe mental retardation and motor impairments, including ataxia, apraxia, and tremors.
Moreover, development of motor performance deficit (ataxia) was delayed on the mixed background compared with the FVB background.
Motor difficulties as ataxia and dysarthria, could wrongly be allocated to the side-effects of the antipsychotic medication.
The Ube3am-p+ mouse has reduced brain size, ataxia, motor deficits, abnormal EEG, inducible seizures, and behavioral alterations.
