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At least 505 records · Page 28Linked to original sources
PubMed1987

Chorea-acanthocytosis: a report of three new families and implications for genetic counselling.

Chorea-acanthocytosis (CHA) is a rare inherited neurologic disorder with peripheral red cell acanthocytes and normal serum lipoprotein levels. To date, 8 families with the disorder have been reported outside of Japan. We describe 4 patients in 3 families with CHA and review the clinical presentations in previous reports. In addition, we report magnetic resonance imaging scans in these patients. The pattern of inheritance in these families is most likely autosomal recessive. Obligate heterozygotes do not have acanthocytes on wet preparation under phase microscope. Two of 3 propositi were initially diagnosed as having Huntington chorea. Chorea-acanthocytosis is an important differential in the diagnosis of Huntington chorea and should be considered in families without a family history. The paucity of families with CHA reported to date may represent lack of recognition.

Acanthocytes↗
PubMed1977

Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes.

Four generations of a family are described in which 7 of 8 affected members suffered from prolonged dystonic seizures; the eighth member's attacks were those of paroxysmal choreoathetosis. The attacks lasted up to 4 hours, were precipitated by alcohol, emotion, or fatigue, and responded poorly to phenytoin and barbiturates but were controlled by clonazepam. Autopsy on an affected child who died a "crib death" at the age of 2 years disclosed no major abnormality of the brain. This family appears to have the same condition as that described by Mount and Reback in 1940, Forssman in 1961, and Richards and Barnett in 1968, which the last authors termed paroxysmal dystonic choreoathetosis to distinguish it from the more common movement-induced (kinesigenic) form of the disorder. Analysis of reports of 100 cases of paroxysmal kinesigenic choreoathetosis shows that the attacks last less than 5 minutes, are precipitated by sudden movement or startle, and usually respond well to phenytoin or barbiturates. A clinical classification is presented in which the kinesigenic form is divided into a familial group (72% of cases) and a sporadic group (28% of cases) and contrasted with paroxysmal dystonic choreoathetosis. One family with an intermediate form, in which dystonic choreoathetosis was provoked by continued exertion and lasted for up to 30 minutes, is also reported.

Adult↗
PubMed1977

Paroxysmal choreoathetosis following head injury.

A 33-year-old man developed paroxysmal choreoathetosis following a severe head injury. Phenobarbital therapy was promptly effective. The family history as well as physical examinations and laboratory studies were unremarkable.

Adult↗
PubMed1982

Treatment of hyperkinetic movement disorders with tetrabenazine: a double-blind crossover study.

Tetrabenazine, a presynaptic monoamine depleting agent, has been reported to have an ameliorating effect in a variety of hyperkinetic movement disorders. In a double-blind crossover trial of tetrabenazine versus placebo, 19 patients with a variety of hyperkinetic movement disorders were evaluated. During the evaluation period, all but 4 patients were treated for three or more weeks at a maximum dosage of 200 mg per day. The patients were examined and rated using clinical assessment of hyperkinesia, and movies of their activities were randomized and rated by an independent group of neurologists. A good correlation was found between the clinical examination scale and the film analysis score. Improvement was seen in all 4 patients with tardive dyskinesia, 4 of 6 patients with Meige disease, and 5 of 6 patients with other dystonias. One patient with Huntington disease showed marked improvement and 2 patients with congenital choreoathetosis showed only mild improvement. The most frequent side effects included daytime drowsiness, drooling or sialorrhea, insomnia, restlessness and anxiety, parkinsonian features, and mild postural hypotension. The adverse effects resolved with continued administration or with reduction in dosage. Tetrabenazine is a useful and safe therapeutic agent in some patients with hyperkinetic movement disorders.

Adolescent↗
PubMed1983

Familial paroxysmal dystonic choreoathetosis and response to alternate-day oxazepam therapy.

A patient with familial paroxysmal dystonic choreoathetosis (FPDC) who was only transiently improved on daily benzodiazepine therapy showed sustained benefit from a regimen of alternate-day oxazepam therapy. Our findings confirm that FPDC is responsive to benzodiazepine therapy and suggest that an alternate-day dosing schedule, using a short-acting benzodiazepine, may minimize receptor down regulation and thereby sustain the therapeutic effect.

Athetosis↗
PubMed1995

Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy.

Herein we describe the molecular and clinical findings in a North American Caucasian family with dentatorubral-pallidoluysian atrophy (DRPLA). These patients all presented with an autosomal dominant neurodegenerative disorder characterized by a variable combination of clinical symptoms including seizures, ataxia, dementia, choreiform movements, mental retardation, and psychiatric disease. Neuroradiologic findings in the index case revealed deep subcortical white matter changes on magnetic resonance imaging. Prior to referral, the family carried a diagnosis of Huntington's disease (HD). Subsequent direct molecular testing for HD failed to identify the HD expansion mutation in affected individuals. Molecular testing for DRPLA, however, demonstrated the presence of the recently characterized DRPLA expansion mutation in all affected individuals. The size of the expansion correlated with the age of onset of clinical symptoms. As DRPLA has rarely been reported in North American and European populations, the molecular confirmation of DRPLA in this family provides support for the hypothesis that DRPLA may not be as geographically restricted as once thought.

Adolescent↗
PubMed2005

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.

The alpha-ketoglutarate dehydrogenase complex (KGDC) catalyses the decarboxylation of alpha-ketoglutarate into succinyl-coenzyme A in the Krebs cycle. This enzymatic complex is made up of three subunits (E1, encoded by PDHA1; E2, encoded by DLST; and E3, encoded by DLD). The E3 subunit is common to two other enzymatic complexes, namely pyruvate dehydrogenase complex (PDC) and branched-chain ketoacid dehydrogenase complex (BCKDC). KGDC deficiency is a rare autosomal recessive disorder, most often presenting with severe encephalopathy and hyperlactatemia with neonatal onset. We found a KGDC deficiency in cultured skin fibroblasts from three siblings born to consanguinous parents. E3 subunit activity was shown to be deficient (20% of control values), despite the absence of usual clinical clues to E3 deficiency, i.e. accumulation of pyruvate and branched-chain amino acids in plasma and branched-chain alpha-ketoacids in urine. RT-PCR of E3 mRNA from the three patients, followed by sequencing, revealed an homozygous c.1444A>G substitution located in E3 exon 13, predictive of a p.R482G (or R447G in the processed gene product) substitution in a highly conserved domain of the protein. Only eleven E3 mutations have been reported so far. The only other case of E3 deficiency without clinical or biochemical evidences of PDC and BCKDC deficiencies has been ascribed to a c.1436A>T (p.D479V; or D444V in the processed gene product) mutation, very close to the mutation reported herein. Since c.1444A>G (p.R482G; or R447G in the processed gene product) and c.1436A>T (p.D479V; or D444V in the processed gene product) lie within the interface domain of E3 with E2 (KGDC and BCKDC) or the E3-binding protein (PDC), our data suggest that interaction of E3 with these other subunits differs in some extent among KGDC, PDC, and BCKDC.

3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)↗
PubMed2002

Levetiracetam in the treatment of paroxysmal kinesiogenic choreoathetosis.

Anticonvulsants are frequently used in the treatment of paroxysmal kinesiogenic choreoathetosis (PKC). Although they are often extremely effective in eliminating paroxysmal movements, short- and long-term side-effects may limit their use in young patients. Levetiracetam (Keppra), a novel antiepileptic drug approved for the treatment of partial seizures is well tolerated in patients with epilepsy. We report on the use of levetiracetam in the treatment of PKC. Levetiracetam was effective in eliminating paroxysmal events and should be considered as an alternative to standard antiepileptic medications in this disorder.

Adult↗
PubMed2002

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.

Paroxysmal kinesigenic dyskinesia (PKD) is characterised by paroxysms of choreic, dystonic, ballistic, or athetoid movements. The attacks typically last seconds to minutes in duration and are induced by sudden voluntary movement. PKD loci have been identified on chromosome 16. We present the clinical and genetic details of two British and an Indian family with PKD. Linkage to the PKD loci on chromosome 16 has been excluded in one of these families, providing evidence for a third loci for PKD. Detailed clinical descriptions highlight the presence of both adolescent and infantile seizures in some of the PKD families. This study attempts to clarify the relationship of adolescent and infantile seizures to PKD and provides evidence that PKD is both genetically and clinically heterogeneous.

Adolescent↗
PubMed2002

Unilateral and bilateral pallidotomy for idiopathic Parkinson's disease: a case series of 115 patients.

Lesioning of the internal pallidum is known to improve the symptoms of idiopathic Parkinson's disease (PD) and alleviate dyskinesia and motor fluctuations related to levodopa therapy. The benefit obtained contralateral to a single lesion is insufficient in some cases when symptoms are bilaterally disabling. However, reports of unacceptably high rates of adverse effects after bilateral pallidotomy have limited its use in such cases. We report on the outcome of unilateral (UPVP) and bilateral (BPVP) posteroventral pallidotomy in a consecutive case series of 115 patients with PD in the United Kingdom and Australia. After 3 months, UPVP resulted in a 27% reduction in the off medication Part III (motor) Unified Parkinson's Disease Rating Scale score and abolition of dyskinesia in 40% of cases. For BPVP, these figures were increased to 31% and 63%, respectively. Follow-up of a smaller group to 12 months found the motor scores to be worsening but benefit to dyskinesia and activities of daily living was maintained. Speech was adversely affected after BPVP, although the change was small in most cases. Unilateral and bilateral pallidotomy can be performed safely without microelectrode localisation. Bilateral pallidotomy appears to be more effective, particularly in reducing dyskinesia; in our experience, the side effects have not been as high as reported by other groups.

Aged↗
PubMed2003

Pseudoathetosis in a patient with leprosy.

A 35-year-old man with borderline tuberculoid leprosy developed Type I lepra reaction 12 days after anti-leprosy treatment. There was acute worsening of neuropathic symptoms and skin lesions. He developed severe sensory ataxia and pseudoathetosis resulting in marked disability. His symptoms significantly improved on corticosteroid therapy.

Adult↗
PubMed2001

Complex movement disorders following bilateral paramedian thalamic and bilateral cerebellar infarcts.

Complex movement disorders (CMD; including tremor, dystonias, choreoatheosis, and myoclonus) following infarcts in the posterior and posterolateral thalamic nuclei have been reported. This case of a 59-year-old man who developed CMD following bilateral paramedian and bilateral cerebellar infarcts illustrates the lack of anatomic specificity and the diverse pathophysiology which may underlie CMD.

Athetosis↗