introduction: loss of inhibitory output from purkinje cells leads to hyperexcitability of the deep cerebellar nuclei (dcn), which results in cerebellar ataxia. also, inhibition of small-conductancecalcium-activated potassium (sk) channel increases firing rate  f dcn, which could cause cerebellar ataxia. therefore, sk channel activators can be effective in reducing the symptoms of this disease, ...

ataxia oculomotor apraxia1(aoa1) is the most frequent cause of autosomal-recessive cerebellar ataxia in japan,but it is reported from all of the world. the presentation is nearly identical to that of at without the non-neurological features,and accounts for up to 10% of autosomal-recessive cerebellar ataxias.gait imbalance and dysarthria are typical presenting features,oculomotor apraxia typica...

index case is 17 years old girl with ataxia of gait since 3 years ago. she has been walking normally in past. sensory is normal in her legs. ocular movements are normal. she has mild scoliosis. her electrocardiogram shows t-wave inversions. her parents are cousins& asymptomatic. she has 5 brothers & 3 sisters. one of her brothers & one of her sisters are wheelchair dependent. their history is s...

Ataxia Telangiectasia is a rare autosomal recessive disease characterized by progressive neurological dysfunction, immunodeficiency, telangiectasia, chromosomal problems, and sensitivity to radiation, infection, susceptibility cancer. A 5-year-old girl with applied our rehabilitation center due balance coordination problems. Step length, double step width cadence were calculated in the patient ...

In a sibship of four, Friedreich's ataxia and minimal lesion nephrotic syndrome occurred in two siblings, a third sibling had Friedreich's ataxia, but no evidence of nephrotic syndrome; the fourth sibling had neither condition. The chance of Freidreich's ataxia and minimal lesion nephrotic syndrome occurring in two siblings is small, and suggested a common immunological abnormality. High dose p...

BACKGROUND Juvenile-onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years. Ataxia occurs with varying combinations of myokymia, seizures, and other signs of neurologic disease. More than 1 form of the disease has been suspected. HYPOTHESIS/OBJECTIVES The objective was to identify the mutation causing the spinocere...