Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Angelman syndrome (AS) is a neurological disorder with a heterogeneous genetic aetiology. It most frequently results from a de novo interstitial deletion in the 15q11-q13 region, but in a few cases it is caused by paternal uniparental disomy (UPD) or an imprinting mutation. The remaining 20 to 30% of AS patients exhibit biparental inheritance and a normal pattern of allelic methylation in the 15q11-q13 region. In this latter group, mutations in the UBE3A gene have recently been shown to be a cause of AS. Here we describe the phenotypic expression in 14 AS cases involving eight UBE3A mutations. These comprise 11 familial cases from five families and three sporadic cases. Subtle differences from the typical phenotype of AS were found. Consistent manifestations were psychomotor delay, a happy disposition, a hyperexcitable personality, EEG abnormalities, and mental retardation with severe speech impairment. The other main manifestations of AS, ataxia, epilepsy, and microcephaly, were either milder or absent in various combinations among the patients. In addition, myoclonus of cortical origin was frequently observed with severe fits inducing myoclonic seizures. The majority of the patients were overweight. This study showed that ataxia, myoclonus, EEG abnormalities, speech impairment, characteristic behavioural phenotype, and abnormal head circumference are attributable to a deficiency in the maternally inherited UBE3A allele. Furthermore, analysis of mutation transmission showed an unexpectedly high rate of somatic mosaicism in normal carriers. These data have important consequences for genetic counselling.
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PMID:Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling. 1042 18

The prevalence of sleep-related disorders (SRD) in adults in Turkey is unknown. The main objective of our study was to assess the prevalence of SRD in Sivas, Turkey. Adults living in Sivas, a city of Turkey from the central region of Anatolia at 20-107 years of age, in both genders, of the 5339 persons, who attended the survey 2638 (49.4%) were male and 2701 (50.6%) were female. The prevalence of insomnia, habitual snoring, obstructive sleep apnea (OSA) and day time hyper somnolence was 40.3%, 37.0%, 6.4%, 24.0% respectively. The prevalence rates of narcolepsy and nocturnal myoclonus was 30.6%, 40.1% respectively. There was a statistical significance between the persons of above 60 years old and another age groups (p< 0.05). But we did not find any significant difference between smokers and non-smokers, also between males and females about SRD prevalence (p> 0.05). However, sleep apnea prevalence was about 9 times higher in the persons suffering from hypertension than without hypertension. Also sleep apnea prevalence was 12 times higher in the persons suffering from overweight. This study has shown that sleep-disordered breathing (SDB) prevalence in Turkey is as high as in other countries and may be more common.
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PMID:The prevalence of sleep related disorders in Sivas, Turkey. 1700 51