Disease relevance of Choreatic Disorders

• Paroxysmal kinesigenic choreoathetosis (PKC), the most frequently described type of paroxysmal dyskinesia, is characterized by recurrent, brief attacks of involuntary movements induced by sudden voluntary movements [1].
• Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder [2].
• Despite treatment with valproic acid and neuroleptics, a significant proportion of patients with Sydenham chorea (SC) remain with chorea [3].
• In addition, gene mutations have been identified in less common movement disorders including Wilson's disease, Hallervorden-Spatz syndrome, paroxysmal kinesogenic choreoathetosis, neuroacanthocytosis, and some forms of dystonia [4].
• Important distinctions between rocker and the previously characterized alleles of this locus include the absence of aberrant tyrosine hydroxylase expression in Purkinje cells and the separation of the absence seizures (spike/wave type discharges) from the paroxysmal dyskinesia phenotype [5].

Psychiatry related information on Choreatic Disorders

• In addition, the length of the CAG repeat was determined in 113 control subjects with a family history of Alzheimer's disease (44 patients), schizophrenia (39), major depression (16), senile chorea (5), benign hereditary chorea (5), neuroacanthocytosis (2), and dentatorubropallidoluysian atrophy (2) [6].
• There is a widely held belief that most patients presenting with senile chorea have late-onset Huntington's disease (HD) with an unknown family history [7].
• A young boy is reported who had benign hereditary chorea and attention deficit disorder, whose chorea, handwriting, and independent ambulation paradoxically improved with methylphenidate treatment [8].

High impact information on Choreatic Disorders

• 46% of sera from 30 children with rheumatic chorea showed IgG antibody reacting with neuronal cytoplasm of human caudate and subthalamic nuclei [9].
• Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14 [10].
• Our observations are in accordance with the occurrence of ataxia and paroxysmal dyskinesia in Fgf14-knockout mice [11].
• BFIC appears to be frequently associated with paroxysmal dyskinesias, because many additional families from diverse ethnic backgrounds have similar syndromes that have been linked to the chromosome 16 ICCA region [12].
• 1. The PKCR overlaps with a region responsible for "infantile convulsions and paroxysmal choreoathetosis" (MIM 602066), a recently recognized clinical entity with benign infantile convulsions and nonkinesigenic paroxysmal dyskinesias [1].

Chemical compound and disease context of Choreatic Disorders

• Regional brain glucose metabolism in neuroacanthocytosis [13].
• Clozapine treatment of persistent paroxysmal dyskinesia associated with concomitant paroxetine and sumatriptan use [14].
• We deduced a model of PDC pathophysiology from analyzing neurophysiologic effects of alcohol and caffeine (which provoke attacks of PDC), the variably beneficial effects of levodopa-carbidopa, and the occurrence of dystonia and paroxysmal dyskinesia in biopterin synthesis disorders [15].
• Haloperidol for nonkinesiogenic paroxysmal dyskinesia [16].
• In vivo microdialysis was used to examine the levels of dopamine, serotonin, and their metabolites dihydroxyphenylacetic acid (DOPAC), homovanillic acid (HVA), and 5-hydroxyindoleacetic acid (5-HIAA) in the striatum of dt(sz) mutant hamsters, an animal model of paroxysmal dyskinesia, in which stress can precipitate dystonic episodes [17].

Biological context of Choreatic Disorders

• A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q [18].
• We measured CAG trinucleotide repeat expansion in the HD gene in four patients with a clinical presentation of senile chorea and found that CAG repetition lengths were normal [7].
• PURPOSE: To describe the eye movement abnormalities in patients with chorea-acanthocytosis (ChAc), a form of neuroacanthocytosis [19].

Anatomical context of Choreatic Disorders

• In patients with neuroacanthocytosis, mean equilibrium caudate: cerebellum and putamen: cerebellum [11C]raclopride uptake ratios were reduced to 54% and 62% of normal, compatible with a 65% and 53% loss of caudate and putamen D2-receptor-binding sites, respectively [20].

Gene context of Choreatic Disorders

• This genomic region contains a major gene responsible for a syndrome of infantile convulsions and paroxysmal dyskinesia (ICCA syndrome), inherited as an autosomal dominant trait, as well as for benign familial infantile convulsions (BFIC) [21].
• Paroxysmal dyskinesias (PxDs) are involuntary, episodic movements that include paroxysmal kinesigenic (PKD), paroxysmal nonkinesigenic (PNKD), and paroxysmal hypnogenic (PHD) varieties [22].
• Mutations in TITF-1 are associated with benign hereditary chorea [2].
• The NMDA receptor NR2B subtype selective antagonist Ro 25-6981 aggravates paroxysmal dyskinesia in the dt(sz) mutant [23].
• NR2B-selective NMDA receptor antagonists seem not to provide a novel approach in the treatment of hereditary paroxysmal dyskinesias [23].

Analytical, diagnostic and therapeutic context of Choreatic Disorders

• Western blot data were consistent with correct cleavage of the alpha2delta-2entla precursor into alpha2entla and delta2 proteins but indicated loss of the disulfide linkage between the two proteins. ent/ent mice develop ataxia by postnatal day 13-15, followed by paroxysmal dyskinesia a few days later [24].
• Epilepsy and paroxysmal dyskinesia: co-occurrence and differential diagnosis [25].

References