The Reciprocal Cerebellar Circuitry in Human Hereditary Ataxia
نویسندگان
چکیده
منابع مشابه
hereditary ataxia
the hereditary ataxias comprise a wide spectrum of heterogeneous disorders that share three features: ataxia, involvement of cerebellum or its connections, and heritability. in many hereditary ataxias, the underlying gene mutations have been identified. knowledge of the causative mutations allows a rational classification of hereditary ataxias as autosomal recessive, autosomal dominant or mater...
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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, ...
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"AS THE DISEASE progresses some jerky irregularity develops in the movement of the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea". This is how Gowers in 1899 described the occurrence of titubation in hereditary ataxy in his book on the diseases of the nervous system. But this feature of hereditary ataxia seems to have r...
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the structure’s performance such as locomotion, vestibular-occular refl ex (VOR), eye blink conditioning (Boyden et al., 2004; De Zeeuw and Yeo, 2005) and fear conditioning (Scelfo et al., 2008); 3, precise cell-type specifi c targeting, permitting interventional analysis of the circuit (e.g. Oberdick et al., 1990; Smeyne et al., 1995; Bahn et al., 1997; Barski et al., 2000; Aller et al., 2003;...
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Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...
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ژورنال
عنوان ژورنال: The Cerebellum
سال: 2013
ISSN: 1473-4222,1473-4230
DOI: 10.1007/s12311-013-0456-0