See also:

1. Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations ABSTRACT Ataxia-telangiectasia is an autosomal recessive neurodegenerative disorder that was initially thought to present exclusively in childhood. With the discovery of the ATM gene, the phenotypic spectrum of the condition has expanded. This review elaborates the expanded phenomenology, including oculomotor apraxia and immunodeficiency, and estimates the presence of each movement...
2. Alcohol improves cerebellar-learning deficit in myoclonus-dystonia – a clinical and electrophysiological investigation Abstract Objectives: To characterize neurophysiological subcortical abnormalities in myoclonus-dystonia and their modulation by alcohol administration. Methods: Cerebellar associative learning and basal ganglia-brainstem interaction were investigated in 17 myoclonus-dystonia patients with epsilon-sarcoglycan (SGCE) gene mutation and 21 age- and sex-matched healthy controls by means of classical eyeblink conditioning and blink reflex...
3. Low CSF 5-HIAA in Myoclonus Dystonia Read More......
4. Sphingosine-1-Phosphate Receptor 1 Activation Enhances Leptomeningeal Collateral Development and Improves Outcome after Stroke in Mice Development of collateral circulation after acute ischemic stroke is triggered by shear stress that occurs in pre-existing arterioles. Recently, sphingosine-1-phosphate receptor 1 (S1P1) on endothelial cells was reported to sense shear stress and transduce its signaling pathways. Read More......