Familial Unverricht-Lundborg Disease: A Clinical, Neurophysiologic, and Genetic Study
نویسندگان
چکیده
منابع مشابه
A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression.
Unverricht-Lundborg disease (EPM1), the most common progressive myoclonic epilepsy, is associated with a defect of cystatin B (CSTB), a protease inhibitor. We used CSTB knockout mice to test the hypothesis that EPM1 onset is related to a latent hyperexcitability and that progression depends on higher susceptibility to seizure-induced cell damage. Hippocampal slices prepared from CSTB-deficient ...
متن کاملCharacterization of a rare Unverricht-Lundborg disease mutation.
Cystatin B (CSTB) gene mutations cause Unverricht-Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66G > A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this work we aimed at the characterization of this mutation at the population level and at the cellular...
متن کاملA Native Haitian Woman with Unverricht-Lundborg Disease
Unverricht-Lundborg disease (ULD) is an autosomal recessive progressive myoclonic epilepsy. The prevalence is highest in specific European countries and North Africa. Affected individuals have myoclonic and tonic-clonic seizures and a variable degree of ataxia and cognitive impairment. We report a native Haitian woman with ULD who was wheelchair bound due to nearly continuous myoclonic seizures...
متن کامل- Lundborg Disease ( EPM 1 ) Päivi Koskenkorva Magnetic Resonance Imaging of Unverricht - Lundborg Disease ( EPM 1 )
Unverricht-Lundborg disease (EPM1), caused by mutations in the cystatin B gene (CSTB), is an autosomal recessively inherited disorder. It is the most common form of progressive myoclonus epilepsy. The prevalence of EPM1 is increased particularly in Finland where it is 4:100 000, offering a unique opportunity to study a large patient population. EPM1 is characterized by stimulus-sensitive and ac...
متن کاملA new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping.
Progressive myoclonus epilepsy (PME) has a number of causes, of which Unverricht-Lundborg disease (ULD) is the most common. ULD has previously been mapped to a locus on chromosome 21 (EPM1). Subsequently, mutations in the cystatin B gene have been found in most cases. In the present work we identified an inbred Arab family with a clinical pattern compatible with ULD, but mutations in the cystat...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Epilepsia
سال: 1997
ISSN: 0013-9580,1528-1167
DOI: 10.1111/j.1528-1157.1997.tb01232.x