Neuropathological Changes in a Mouse Model of Progressive Myoclonus Epilepsy: Cystatin B Deficiency and Unverricht-Lundborg Disease
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چکیده
منابع مشابه
Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease.
Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is a recessively inherited neurodegenerative disease caused by loss-of-function mutations in the gene encoding cystatin B, a cysteine protease inhibitor. Mice with disruptions in this gene display myoclonic seizures, progressive ataxia, and cerebellar pathology closely paralleling EPMI in humans. To provide further insight in...
متن کاملNovel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient.
Two mutations in the cystatin B gene, a 3' splice mutation and a stop codon mutation, were previously found in patients with progressive myoclonus epilepsy of Unverricht-Lundborg type [Pennacchio et al. (1996): Science 271:1731-1734]. We present here a new mutation 2404deltaTC: a 2-bp deletion within the third exon of the cystatin B gene in an Unverricht-Lundborg patient. This mutation results ...
متن کاملAbnormal Reactivity of the ;20-Hz Motor Cortex Rhythm in Unverricht Lundborg Type Progressive Myoclonus Epilepsy
o c a g p a The ;20-Hz component of the human mu rhythm originates predominantly in the primary motor cortex. We monitored with a whole-scalp neuromagnetometer the reactivity of the ;20-Hz rhythm as an index of the functional state of the primary motor cortex in seven patients suffering from Unverricht– Lundborg type (ULD) progressive myoclonus epilepsy (PME) and in seven healthy control subjec...
متن کاملThe Studies on Cystatin B Deficient Mice: Neurochemical and Behavioural Alterations in Animal Model of Progressive Myoclonus Epilepsy of Unverricht-lundborg Type
Progressive myoclonus epilepsy of the Unverricht–Lundborg type is a raredisorder associated with mutations in gene encoding the cystatin B, an inhibitorof cysteine proteases. Cystatin B knockout mice share phenotype with humandisease demonstrating similarly the myoclonic seizures, progressive ataxia andneuronal atrophy in hippocampus and cerebellum. We used liquid chromatographi...
متن کاملMolecular biology of progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1)
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an autosomal recessively inherited disorder characterized by stimulus-sensitive myoclonus, tonic-clonic epileptic seizures, age of onset at 6-15 years and a progressive course. Mutations in the cystatin B (CSTB) gene underlie EPM1. The most common underlying mutation is a dodecamer repeat expansion in the putative promoter reg...
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ژورنال
عنوان ژورنال: Journal of Neuropathology & Experimental Neurology
سال: 2002
ISSN: 0022-3069,1554-6578
DOI: 10.1093/jnen/61.12.1085