Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 21-year-old male patient with dentatorubral-pallidoluysian atrophy (DRPLA) showing progressive myoclonus epilepsy (PME), who responded to levetiracetam (LEV) at an initial dose of 1,000 mg/day. The patient developed epilepsy at the age of 10 years, and also showed intellectual regression. Various antiepileptic drugs showed no effects on generalized tonic seizures, tonic-clonic seizures, and myoclonus. Addition of LEV (1,000 mg/day) led to the reduction of myoclonus and tonic-clonic seizures, and improved the EEG and sleep-wake rhythm. He had a better appetite and gain weight. It is suggested that LEV may improve quality of life in patients with DRPLA, in addition to reducing the frequency of epileptic seizures.
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PMID:[Successful treatment of epilepsy and circadian rhythm disturbance with levetiracetam in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)]. 2555 87

Dentatorubral-pallidoluysian atrophy (DRPLA) is hereditary spinocerebellar degeneration presenting various symptoms in association with expansion of the CAG repeat in Atrophin-1 gene. The functional neuroimaging of DRPLA has been poorly investigated. The purpose of this study was to examine (18)F-fluorodeoxyglucose-positron emission tomography ((18)F-FDG-PET) findings of DRPLA. We retrospectively investigated the cases of 14 consecutive genetically confirmed DRPLA patients at our institute. Four juvenile-onset patients underwent (18)F-FDG-PET because of intractable seizures. Their (18)F-FDG-PET images, clinical profiles and MRI findings were evaluated. For quantitative comparison, 3 healthy volunteers also underwent (18)F-FDG-PET as controls. All four patients presented progressive myoclonus epilepsy without MRI abnormalities. Both the visual and quantitative assessments of their (18)F-FDG-PET findings demonstrated bistriatal hypometabolism in only the two preadolescent-onset patients with larger CAG repeat size, whereas the two other later-onset patients showed no hypometabolism in the striatum. Bistriatal glucose hypometabolism in preadolescent-onset DRPLA patients might reflect more severe degeneration. This finding could contribute to a better understanding of DRPLA.
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PMID:Striatal glucose hypometabolism in preadolescent-onset dentatorubral-pallidoluysian atrophy. 2672 87

We administered perampanel (PER) to a bedridden 13-year-old male patient with dentatorubral-pallidoluysian atrophy (DRPLA). The DRPLA diagnosis was based on the presence of a CAG trinucleotide repeat in the ATN1 gene. The patient experienced continuous myoclonic seizures and weekly generalized tonic-clonic seizures (GTCs). PER stopped the patient's myoclonic seizures and reduced the GTCs to fragmented clonic seizures. The patient recovered his intellectual abilities and began to walk again with assistance. We suggest that PER be considered as one of the key drugs used to treat patients with DRPLA.
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PMID:Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA). 2885 97


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