Familial paroxysmal dystonic choreoathetosis: A family study

Kurlan, Roger; Behr, Jill; Medved, Louis; Shoulson, Ira

doi:10.1002/mds.870020305

Cited by 28 publications

(19 citation statements)

References 6 publications

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“…For example, benign familial chorea, char acterized by childhood o nset and a relatively b e nign co u rse,7 sta n d s in c o n tra st to HD, w hereas d e n ta to -ru b ro -p a llid a l-lu y sia n atro p h y (DRPLA), another autosom al dom inant condition, m ay closely mimic HD.S O ther familial disorders w ith chorea as a prom inent feature have also been described. 9,10 T here are instances of late-onset, nonhereditary ch o rea w ith o u t o th e r neurologic m a n ife sta tio n s d e sig n a te d as senile chorea. Some have a rg u e d th a t senile chorea m ay frequently rep resen t lateonset H D .11 However, HD does not account for all reported cases of senile chorea,12 and there is g e netic evidence for senile chorea being a distinct e n tity from H D .1;U1…”

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confidence: 99%

Hereditary Late-Onset Chorea Without Significant Dementia

Britton

Uitti²,

Ahlskog³

et al. 1995

Neurology

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Article abstract-We examined five individuals and obtained information concerning six other members from two unrelated families, nearly all of whom developed chorea after age 50 (one patient developed chorea at age 40). The severity of chorea progressed in all patients and became disabling in some individuals approximately 15 years after onset. Cognitive impairment was absent or minimal. All five examined patients were cognitively normal, even 10 to 30 years following the onset of chorea. Formal neuropsychometric testing demonstrated mild cognitive impairment in two individuals. Nevertheless, all patients were able to maintain employment or carry on with their usual household tasks until chorea was severe. One individual first became demented 30 years after the onset of chorea. Neuroimaging (with CT or MRI) in four patients failed to demonstrate significant caudate or putaminal atrophy 8 to 15 years following the onset of chorea. Three other family members (who were not available for examination) were said to have suffered chorea (without any mental decline) beginning after age 50, with subsequent survival of 20 years (in one) and 30 years (in two). Given this constellation of history and findings, three experienced neurologists and two medical geneticists concluded that these patients had a familial chorea syndrome distinct from Huntington's disease (HD). However, genetic analysis of the trinucleotide (CAG) repeat length associated with HD (in 4p16.3) determined repeat lengths of 44 and 46 in four patients tested (within the HD range). We conclude that these patients have HD and that such families represent further convincing examples of significant phenotypic variation for HD.NEUROLOGY 1995;45: 443-447

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mentioning

confidence: 99%

Hereditary Late-Onset Chorea Without Significant Dementia

Britton

Uitti²,

Ahlskog³

et al. 1995

Neurology

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“…Two members (case IV.2, the proband, and case V.2) described prolonged exercise as a precipitant of spells longer in duration and more typical of PDC. Prolonged exertion induced similar, lengthier attacks in three of five members with PDC reported by Kurlan et al (5). Of these, two were women.…”

Section: Discussionmentioning

confidence: 74%

Familial paroxysmal dystonic choreoathetosis revisited

1996

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A case of familial paroxysmal dystonic choreoathetosis (PDC) documented by video/EEG monitoring is described. The father of the proband is affected by exertional cramping but not PDC, lending support to the previous hypothesis that exertional cramping may represent a "forme fruste" or the incomplete expression of PDC. Other family members affected by PDC are women, with exercise-induced cramping alone found in two men. Two of the women report prolonged exertion as a precipitant of lengthy spells consistent with typical PDC rather than the previously described "intermediate," exercise-induced form of PDC. Exertional cramping in families affected by PDC may represent the variable expression of the "dystonia gene" in male members. Conversely, exercise-induced PDC, both of the intermediate and longer form described here, may have a predilection to manifest in women.

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“…In the family with PNKD reported by Schloesser et al 24 two affected female members described exercise as a precipitant of attacks that were longer than usual attacks of PED and more typical of PNKD. Prolonged exertion induced PNKD attacks in three of five family members with PNKD reported by Kurlan et al 25. We therefore looked for linkage to the PNKD locus on chromosome 2.…”

Section: Discussionmentioning

confidence: 94%

A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study

Münchau

Valente

Shahidi

et al. 2000

Journal of Neurology, Neurosurgery &Amp; Psychiatry

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Objective-To characterise the phenotype of a family with paroxysmal exercise induced dystonia (PED) and migraine and establish whether it is linked to the paroxysmal non-kinesigenic dyskinesia (PNKD) locus on chromosome 2q33-35, the familial hemiplegic migraine (FHM) locus on chromosome 19p, or the familial infantile convulsions and paroxysmal choreoathetosis (ICCA syndrome) locus on chromosome 16. Methods-A family, comprising 30 members, was investigated. Fourteen family members in two generations including three spouses were examined. Haplotypes were reconstructed for all the available family members by typing several microsatellite markers spanning the PNKD, FHM, and ICCA loci. Additionally, the four exons containing the known FHM mutations were sequenced. Results-Of 14 members examined four were definitely aVected and one member was aVected by history. The transmission pattern in this family was autosomal dominant with reduced penetrance. Mean age of onset in aVected members was 12 (range 9-15 years). Male to female ratio was 3:1. Attacks of PED in aVected members were predominantly dystonic and lasted between 15 and 30 minutes. They were consistently precipitated by walking but could also occur after other exercise. Generalisation did not occur. Three of the aVected members in the family also had migraine without aura. Linkage of the disease to the PNKD, FHM, or ICCA loci was excluded as no common haplotype was shared by all the aVected members for each locus. In addition, direct DNA sequential analysis of the FHM gene (CACNL1A4) ruled out all known FHM point mutations.Conclusions-This family presented with the classic phenotype of PED and is not linked to the PNKD, FHM, or ICCA loci. A new gene, possibly coding for an ion channel, is likely to be the underlying cause of the disease. (J Neurol Neurosurg Psychiatry 2000;68:609-614)

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Familial paroxysmal dystonic choreoathetosis: A family study

Cited by 28 publications

References 6 publications

Hereditary Late-Onset Chorea Without Significant Dementia

Hereditary Late-Onset Chorea Without Significant Dementia

Familial paroxysmal dystonic choreoathetosis revisited

A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study

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