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)

Neuroacanthocytosis is a progressive multisystem disease with a wide range of symptoms. The involuntary movements mainly include chorea and orofaciolingual dyskinesias. The descriptive name of the disease refers to the presence of abnormal erythrocytes in peripheral blood. Two siblings are presented. One young female had dystonia, self-mutilating behaviour, lip biting and eating difficulties. Her brother had repeated generalized epileptic seizures several years before developing choreatic movements and neuropsychiatric symptoms. Both had clinical signs of sensorimotor axonal polyneuropathy. Fresh blood smears in each patient contained between 15 and 20% acanthocytes compared to less than 2% in normal controls. Neuroacanthocytosis must be kept in mind in young adult patients without heredity for Huntington's disease and the diagnosis is easily confirmed when making a fresh blood smear.
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PMID:Neuroacanthocytosis--the variability of presenting symptoms in two siblings. 1053 20

A consanguineous family affected by an autosomal recessive, progressive neurodegenerative Huntington-like disorder, was tested to rule out juvenile-onset Huntington disease (JHD). The disease manifests at approximately 3-4 years and is characterized by both pyramidal and extrapyramidal abnormalities, including chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and intellectual impairment. Brain magnetic resonance imaging (MRI) findings include progressive frontal cortical atrophy and bilateral caudate atrophy. Huntington CAG trinucleotide-repeat analyses ruled out JHD, since all affected individuals had repeat numbers within the normal range. The presence of only four recombinant events (straight theta=.2) between the disease and the Huntington locus in 20 informative meioses suggested that the disease localized to chromosome 4. Linkage was initially achieved with marker D4S2366 at 4p15.3 (LOD 3.03). High-density mapping at the linked locus resulted in homozygosity for markers D4S431 and D4S394, which span a 3-cM region. A maximum LOD score of 4.71 in the homozygous interval was obtained. Heterozygosity at the distal D4S2366 and proximal D4S2983 markers defines the maximum localization interval (7 cM). Multiple brain-related expressed sequence tags (ESTs) with no known disease association exist in the linkage interval. Among the three known genes residing in the linked interval (ACOX3, DRD5, QDPR), the most likely candidate, DRD5, encoding the dopamine receptor D5, was excluded, since all five affected family members were heterozygous for an intragenic dinucleotide repeat. The inheritance pattern and unique localization to 4p15.3 are consistent with the identification of a novel, autosomal recessive, neurodegenerative Huntington-like disorder.
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PMID:Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. 1084 1

The effects of the nootropic drug piracetam and its analogue, the antiepileptic drug levetiracetam (ucb L059) on severity of dystonic attacks were studied in a mutant hamster model of idiopathic generalized dystonia. Both drugs significantly decreased the severity of dystonia. In contrast to seizure models, in which levetiracetam is much more potent as an anticonvulsant than piracetam, the antidystonic potency of levetiracetam was only moderately higher than that of piracetam. The antidystonic activity of piracetam and levetiracetam was not associated with any behavioral side effects. The data indicate that piracetam and levetiracetam are interesting novel treatments for idiopathic dystonia.
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PMID:Piracetam and levetiracetam, two pyrrolidone derivatives, exert antidystonic activity in a hamster model of paroxysmal dystonia. 1072 65

Systemic administration of the L-type calcium channel agonists +/-Bay K 8644 or FPL 64176 causes a characteristic pattern of motor dysfunction in normal C57BL/6J mice that resembles generalized dystonia. There is no associated change in the electroencephalogram, confirming that the motor disorder does not reflect epileptic seizures. However, the electromyogram reveals an increase in baseline motor unit activity with prolonged phasic discharges consistent with dystonia. The duration and severity of dystonia is dependent on the dose administered and the age of the animal at testing. The effects are transient, with the return of normal motor behavior 1-4 hours after treatment. Similar effects can be provoked by intracerebral administration of small amounts of the drugs, indicating a centrally mediated response. Dystonia can be attenuated by co-administration of dihydropyridine L-type calcium channel antagonists (nifedipine, nimodipine, and nitrendipine) but not by non-dihydropyridine antagonists (diltiazem, verapamil, and flunarizine). These results implicate abnormal function of L-type calcium channels in the expression of dystonia in this model.
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PMID:Calcium channel agonists and dystonia in the mouse. 1083 Apr 22

To investigate the safety (e.g., weight gain, liver function, extrapyramidal side effects, and seizures) and efficacy of the long-term use of risperidone in children and adolescents and to ascertain the effects of drug withdrawal in a semi-naturalistic prospective, subjects with autism or pervasive developmental disorders not otherwise specified (PDDNOS) were treated with risperidone for 6 months after which parents were given the option of continuing for a further 6 months (final assessment at 12 months). Behavioral rating included Childhood Autism Rating Scale (CARS), Child Psychiatric Rating Scale (CPRS), Clinical Global Impression (CGI), and Child-Global Assessment Scale (C-GAS). Risperidone significantly ameliorated behavioral symptoms of PDD in 10 out of 11 subjects, with the effects on core symptoms being of smaller amplitude and of slower onset. No loss of effectiveness was observed in patients who continued risperidone for 12 months, while a relapse of associated behavioral symptoms occurred in the others. Weight gain was common, although the rate of increase lessened over a period of time; after drug withdrawal, considerable weight loss was observed in the patient who had previously shown the most significant increase. After 6 months of therapy, two patients developed facial dystonia: this disappeared after reducing dosage in one case, after drug discontinuation in the other. Amenorrhea was also observed, but no changes in liver function, blood tests or EEG were reported. The data indicate that risperidone is an effective and relatively safe drug for long term treatment of behavioral disruption in autistic children and adolescents.
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PMID:Long-term risperidone for pervasive developmental disorder: efficacy, tolerability, and discontinuation. 1093 18

Nocturnal paroxysmal dystonia (NPD) is the term used to describe motor attacks characterized by complex behavior, with dystonic-dyskinetic or ballic movements arising from NREM sleep. NPD together with paroxysmal arousals (PA), the briefest attacks, and episodic nocturnal wanderings (ENW), the most prolonged ones, constitute nocturnal frontal lobe epilepsy (NFLE). PA are sudden awakenings associated with stereotyped dystonic-dyskinetic movements, sometimes accompanied by screaming and a frightened expression. ENW are episodes of agitated ambulation, with complex, sometimes violent, motor behavior and dystonic postures involving head, trunk and limbs. NPD, PA and ENW coexist in most patients. NFLE is predominant in males and usually begins during adolescence. A familial recurrence of parasomnias in NFLE patients is much more common than in the general population. Autosomal dominant inheritance has been documented in 6% of our cases. Few patients present personal antecedents or positive neuroradiological findings. Seizures are frequent, occurring every or almost every night, many times per night. Interictal wake and sleep EEG tracings are often normal and ictal epileptic activity is recorded in a relatively small number of cases. Carbamazepine controls or significantly reduces seizures in about 70% of cases; the remainder are drug-resistant. Videopolysomnographic recordings, showing stereotyped abnormal movements during attacks, are mandatory to confirm the diagnosis of NFLE.
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PMID:From nocturnal paroxysmal dystonia to nocturnal frontal lobe epilepsy. 1099 49

Encephalopathy with electrical status epilepticus during sleep or ESES is an age-dependent and self-limited syndrome whose distinctive features include a characteristic age of onset (with a peak around 4-5 years), heterogeneous seizures types (mostly partial motor or unilateral seizures during sleep and absences or falls while awake), a typical EEG pattern (with continuous and diffuse paroxysms occupying at least 85% of slow wave sleep) and a variable neuropsychological regression consisting of IQ decrease, reduction of language (as in acquired aphasia or Landau-Kleffner syndrome), disturbance of behaviour (psychotic states) and motor impairment (in the form of ataxia, dyspraxia, dystonia or unilateral deficit). Despite the long-term favourable outcome of epilepsy and status epilepticus during sleep (SES), the prognosis is guarded because of the persistence of severe neuropsychological and/or motor deficits in approximately half of the patients. No specific treatment has been advocated for this syndrome, but valproate sodium, benzodiazepines and ACTH have been shown to control the seizures and the SES pattern in many cases, although often only temporarily. Subpial transection is proposed in some instances as in non-regressive acquired aphasia. Recent data support the concept that ESES syndrome may include a large subset of developmental or acquired regressive conditions of infancy.
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PMID:Encephalopathy with electrical status epilepticus during slow sleep or ESES syndrome including the acquired aphasia. 1099 61

We present our analysis of 44 patients with alternating hemiplegia of childhood. The clinical course usually consisted of three phases. The first was dominated by abnormal eye movements and dystonic episodes, the second by hemiplegic spells and psychomotor regression, and the third by persistent developmental delay and fixed neurologic deficits. The age of onset was 0-54 months (mean = 7.9 +/- 13 months). The presenting signs included abnormal ocular movements in 65%, dystonia in 60%, and hemiplegia in 32%. Patients with an early onset of the disorder and an early appearance of hemiplegic spells faired the poorest developmentally. Developmental delay was present in 91%, ataxia in 68%, choreoathetosis in 50%, and seizures in 18%. Laboratory investigations suggested mitochondrial abnormalities and cerebrovascular dysfunction in several patients. Numerous therapies were largely ineffective. Flunarizine reduced the duration, severity, and frequency of the hemiplegic attacks in 78%. Patients who received flunarizine did not differ developmentally from those who did not. Our data suggest that flunarizine does not adversely affect and may favorably influence the outcome in patients with alternating hemiplegia of childhood. Additionally, the occurrence of autosomal-dominant cases of the syndrome, although rare, suggests that, in addition to mitochondrial dysfunction, genetic factors may be important.
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PMID:Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. 1102 Jun 38

We studied the clinical features, laboratory investigation, management and natural history of a cohort of patients with Juvenile Parkinsonism (JP), seen at a tertiary referral centre. JP was defined as Parkinsonism with onset at age 20 years or less. Six patients (five male, one female) entered the study. The mean age at onset of Parkinsonism was 12.5 years (range 7-19) and the mean follow-up time was 49.3 months (range 40-57). Bradykinesia, rigidity, and postural instability were observed in all patients and five subjects had tremor. Dystonia was present in four subjects. Other clinical features were dementia (five subjects), supranuclear ophthalmoparesis (five subjects), seizures (three subjects), multifocal myoclonus (one subject), decreased deep reflexes (one subject), pyramidal signs (one subject). Family history of Parkinson's disease (PD) was positive in one subject. Work-up for Wilson's disease was negative in all patients. Neuroimaging studies showed cortical atrophy in two subjects and mild brainstem atrophy in two others. Sea-blue histiocytes were found in one subject. L-dopa improved the Parkinsonism in all subjects but four rapidly developed fluctuations and dyskinesias, requiring, in one, stereotaxic surgery. After a mean disease duration of 6.5 years, five subjects require assistance for performance of all daily activities. JP is a heterogeneous clinical entity. In the majority of patients, no underlying cause is identified. The unusual clinical features suggest most subjects have a CNS degenerative disease distinct from PD. There is, however, evidence suggesting that PD may rarely cause JP. Gangliosidosis is another cause of L-dopa-responsive JP. Regardless of the cause, in the present study JP displays an aggressive and rapidly progressive course in most patients.
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PMID:Juvenile parkinsonism: a heterogeneous entity. 1105 29

Nocturnal paroxysmal dystonia (NPD) is a rare disorder characterized by attacks of short-lived dystonic, tonic and choreoatetoid movements occurring mainly during sleep. Although seizures are believed to arise from the frontal lobe, their localization is, however, uncertain due to the lack of ictal clinical-EEG correlations. Two patients are reported with episodes clinically compatible with NPD who also experienced occasional generalized tonic-clonic seizures in which there was a frontal (prerolandic) dysplasia detected by MRI. In one patient interictal/ictal SPECTs suggested that the seizure focus was over the area of dysplasia. Both patients support the notion that NPD is a type of epilepsy arising from the frontal lobe, possibly originating in the prerolandic region.
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PMID:Nocturnal paroxysmal dystonia related to a prerolandic dysplasia. 1139 82


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