Familial Paroxysmal hypnogenic dystonia

Lee, B. I.; Lesser, Ronald P.; Pippenger, C. E.; Morris, Harold H.; Lüders, Hans; Dinner, Dudley S.; Corrie, W. Stephen; Murphy, William F.

doi:10.1212/wnl.35.9.1357

Cited by 55 publications

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“…The first reports of paroxysmal hypnogenic dyskinesia came from Horner and Jackson in 1969 describing two families with "familial paroxysmal choreoathetosis" [14]. Other familial and non-familial cases have since been reported [22,26,33,38]. Close inspection of these hypnogenic cases reveals that they are not at all similar to typical PKC.…”

Section: Discussionmentioning

confidence: 99%

Paroxysmal kinesigenic choreoathetosis: a report of 26 patients

Bhatia

et al. 1999

Journal of Neurology

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Paroxysmal kinesigenic choreoathetosis (PKC) is a neurological condition which results in abnormal involuntary movements that are precipitated by sudden movement. Because of its rarity, large case series of PKC have not been published. We studied 26 patients with PKC, which represents the largest series thus reported. We reviewed our cases with respect to attack characteristics, aetiology, family history, and treatment response. Our population consisted of 23 men and 3 women. Seven patients had a family history of paroxysmal dyskinesia. None of our patients had clear evidence of symptomatic PKC. Two-thirds of our patients had attacks lasting between 30-60 s, and over one-half experienced one to ten attacks per day. Attack distribution varied widely, and most experienced pure dystonia rather than choreodystonic movements. Most patients responded very well to anticonvulsant therapy. We also report the PET results from two of our patients and Bereitschaftspotential abnormalities recorded from two others.

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Section: Discussionmentioning

confidence: 99%

Paroxysmal kinesigenic choreoathetosis: a report of 26 patients

Bhatia

et al. 1999

Journal of Neurology

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“…Lugaresi and Cirignotta (45) introduced the term nocturnal PD when describing a group of patients with frequent brief, sleep‐related attacks characterized by predominantly dystonic movements. Lack of any ictal or interictal scalp EEG abnormality has added to the difficulty in correctly diagnosing the nature of such episodes, as confirmed by several subsequent reports (9,46–48). Although it took 20 years from the first description by Lugaresi and Cirignotta (45) before the paroxysmal dystonia‐like nocturnal episodes were found to be accompanied by ictal scalp EEG activity in a few patients (49), previous studies with depth electrodes had demonstrated that similar attacks were actually the expression of seizure activity in the mesial frontal lobe (46,50).…”

Section: Paroxysmal Dyskinesia Versus Epilepsymentioning

confidence: 95%

Idiopathic Epilepsy and Paroxysmal Dyskinesia

Guerrini

2001

Epilepsia

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Summary: Although some motor manifestations of epilepsy and of paroxysmal dyskinesia may be difficult to differentiate clinically, the current understanding is that the two disorders are clinically distinct. However, there are several recent reports of families in which different individuals had either disorder or both manifestations, with age‐related expression. Co‐occurrence makes it likely that a common, genetically determined, pathophysiologic abnormality is variably expressed in the cerebral cortex and in basal ganglia. A rather homogeneous syndrome of autosomal dominant infantile convulsions and paroxysmal (dystonic) choreoathetosis (ICCA) was described in six families from France, China and Japan. Linkage analysis in the French and Chinese families allowed the mapping of the disease gene in a 10‐cM interval within the pericentromeric region of chromosome 16. An Italian pedigree in which three members in the same generation were affected by rolandic epilepsy, paroxysmal exercise‐induced dystonia (PED), and writer's cramp was subsequently reported. Linkage analysis showed a common homozygous haplotype in a critical region spanning 6 cM and entirely included within the ICCA critical region. Clinical analogies and linkage findings suggest that the same gene could be responsible for rolandic epilepsy, PED, writer's cramp (WC), and ICCA, with specific mutations accounting for each of these mendelian disorders. Evidence for a major gene or a cluster of genes for epilepsy and paroxysmal dyskinesia to the pericentromeric region of chromosome 16 is reinforced by the recent linkage of a family with autosomal dominant paroxysmal dyskinesia to a critical region partially overlapping with ICCA and contiguous to the RE‐PED‐WC regions. Additional autosomal dominant pedigrees are on record, from Australia and Italy, in which epilepsy was variably associated with paroxysmal kinesigenic or exercise‐induced dystonia. Ion channel genes are potentially interesting candidates for syndromes featuring both these paroxysmal neurologic disorders. Increased awareness of their possible co‐occurrence will certainly increase the number of observations in the next few years.

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“…CAP is indeed a natural arousal rhythm reflecting unstable vigilance, a favorable condition for triggering different types of motor activity, from physiological body movements (16) to nocturnal myoclonus (19), parasomnias (3,18,40) and epileptic manifestations (21,25,(41)(42)(43)(44)(45)(46)(47). Arranged in recurring windows of permission (phase (18) 258 (35) 59 ( 9) 88 (29) 20 ( 6) 95 (39) 21 ( 7) 204 (43) 406 (5 1) 27 ( 5) 11 ( 3) 16 ( 4) 52 ( 4 Tables 1 and 2.…”

Section: Iu-mentioning

confidence: 99%

Cyclic Alternating Pattern as a Provocative Factor in Nocturnal Paroxysmal Dystonia

et al. 1997

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Summary: Purpose:We made a polygraphic study of 6 patients with nocturnal paroxysmal dystonia (NPD) in which the cyclic alternating pattern (CAP) parameters were compared with those of a group of age-and sex-matched controls.Methods: All patients met the requirements for NPD diagnosis, characterized by generalized stereotyped movements (dystonic-dyskinetic), with a 1-min centered duration but with no clear evidence of epileptic abnormalities in the waking EEG and during nocturnal recordings.Results: Besides the major events, the NPD polysomnograms also showed shorter, repeated episodes of shorter duration (generally <20 s) consisting of abrupt movements involving one or more body segments. Overall, the motor events in patients with NPD were closely related to periods of unstable non-REM (NREM) sleep, as evidenced by the sequences of CAP, and began during an A phase. According to the conventional scoring parameters, NPD and controls differed only in sleep latency (+14 min in the NPD patients: p < 0.04). However, the architecture of sleep in the group with NPD was characterized by prolonged and irregular NREMREM cycles. In addition, the NPD recordings showed significantly higher values of CAP rate (p < 0.0001). When major motor attacks were suppressed by medication, sleep was characterized by a decrease in the excessive amounts of CAP rate and by a more regular architecture.Conclusions: The modulatory role of CAP on nocturnal motor events is reported. Key Words: Sleep-Epilepsy-Cyclic alternating pattern-Arousals-Nocturnal paroxysmal dystonia.Some patients with unequivocal nocturnal epileptic seizures show normal EEG tracings. Evidence also shows, however, that movement disorders of paroxysmal nature, but without an epileptic etiology, can appear during sleep. In periodic limb movement disorders, brief, repetitive, and highly stereotyped movements involving the extremities, especially of the lower limbs, appear during sleep (1). Likewise, sustained complex abnormal movements are peculiar to nocturnal parasomnias occurring out of non-REM (NREM) sleep, e.g., night terrors (2), and sleepwalking (3), or of REM sleep, e.g. REM sleep behavior disorder (4) [for a complete overview, seeIn the early 1980s, Lugaresi and Cirignotta (6) described the first clinical and video-polygraphic reports of patients presenting nocturnal dystonic-dyskinetic attacks. They reported that the abnormal movements could be distinguished from the epilepsy-related motor attacks during sleep because of the (a) lack of paroxysmal EEG T~O~P Y (31.

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Familial Paroxysmal hypnogenic dystonia

Abstract: We studied a family with dystonic spasms that occurred with non-REM sleep. This familial disorder may be related to the sporadic cases reported previously.

Cited by 55 publications

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Paroxysmal kinesigenic choreoathetosis: a report of 26 patients

Paroxysmal kinesigenic choreoathetosis: a report of 26 patients

Idiopathic Epilepsy and Paroxysmal Dyskinesia

Cyclic Alternating Pattern as a Provocative Factor in Nocturnal Paroxysmal Dystonia

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