8282. Zorzi G, Conti C, Erba A, Granata T, Angelini L, Nardocci N, et al. Paroxysmal dyskinesias in childhood. Pediatr Neurol. 2003;(28):168-72.
|
N=14 Age: ±7.1 y/o age at onset |
Long periods of exercise associated with migraine, hemiplegia, ataxia, and epilepsy |
Ion channel dysfunction may, therefore, constitute the link for PED and epilepsy |
1717. Goodenough DJ, Fariello RG, Annis BL, Chun RW. Familial and acquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features. Arch Neurol. 1978;(35):827-31.
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N=7 Age: 16 and a 24-y/o, man |
During bursts of exercise. Dystonia by sudden movements, hand, arm, and leg |
Great response to anticonvulsants resulting in a decrease in the frequency or amelioration of the paroxysms |
1818. Bovi T, Fasano A, Juergenson I, Gellera C, Castellotti B, Fontana E, et al. Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype. Parkinsonism Relat Disord. 2011;(17):479-81.
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N=1 Age: 26 y/o, woman |
Started in13 years old, fatigued after prolonged walking |
Episodes were increasing when removed carbamazepine or when she had not eaten for an extended period |
6969. Lance JW. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol.1977;(2):285-93.
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N=2 Age: 58 and 23-y/o man; -44-y.o., woman |
Walking long distances -5 to 30 minutes |
Precipitating factor was sudden movement after rest, excitement, stress, and hyperventilation |
7171. Weber YG, Kamm C, Suls AK, Kempfle J, Kotschet K, Schüle R, Wuttke TV, et al. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology. 2011;(77):959-64.
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N=15 Age: 15 y/o |
Prolonged exercise (attacks 5 minutes to 2 hours) several times weekly |
The attack was not modified by trials of phenytoin, valproate, acetazolamide, or clonazepam |
8383. Zorzi G, Castellotti B, Zibordi F, Gellera C, Nardocci N. Paroxysmal movement disorders in GLUT1 deficiency syndrome. Neurology. 2008;(71):146-8.
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N=1 Age: 7-y/o |
Walking (20 minutes) or running during (5-30 minutes) |
Loss of function mutations had more severe cognitive and motor impairment. They ceased after stopping exercise |
7373. Dale RC, Melchers A, Fung VSC, Grattan-Smith P, Houlden H, Earl J, et al. Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency. Dev Med Child Neurol. 2010;(52):583-6.
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N=3 Age: 40 and 8 y/o; 41 y/o woman |
Young-onset Parkinsonisn; attacks after prolonged exercise (walking, running, or swimming) |
Carbamazepine for 2 months produced no benefit- treatment, and L-Dopa stopped the events |
7474. Liu Q, Qi Z, Wan XH, Li JY, Shi L, Lu Q, et al. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. J Med Genet. 2012;(49):79-82.
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N=2 Age: 8 e 10-y/o |
Fatigue or exercise after a few seconds - short duration of attacks lasting |
Response to antiepileptic drugs varied in both families. Remission seemed to be around 20 years. |
7575. Roubergue A, Roze E, Vuillaumier-Barrot S, Fontenielle MJ, Méneret A, Vidailhet M, et al. The multiple faces of the ATP1A3-related dystonic movement disorder. Movement disorders . J Mov Disord Society. 2013;(28):1457-9.
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N=4 Age: 51 and 23 y/o man; 26 and 3 y.o. woman |
Exercise-induced dystonia in the absence of plegic attacks |
The ATP1A3 and environmental factors were determinants |
7777. Münchau A, Valente EM, Shahidi GA, Eunson LH, Hanna MG, Quinn NP, et al. A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. J Neurol Neurosurg Psychiatry. 2000;(68):609-14.
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N=14 Age: Mean of onset 12 y/o; man to woman: ratio 3:1 |
Attacks dystonic (15 and 30 minutes). - precipitated by walking or another type of the exercise |
Treatment with acetazolamide did not prevent the attacks of PED. Treatment with sodium valproate resulted in some improvement |
7878. Neville BG, Besag FM, Marsden CD. Exercise induced steroid dependent dystonia, ataxia, and alternating hemiplegia associated with epilepsy. J Neurol Neurosurg Psychiatry. 1998;(65):241-4.
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N=1 Age: 20 y/o woman |
Occurred after 10-20 minutes walking |
Prednisolone improved ataxia and cessation of both seizures and PED |
7979. Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, Fusco M, et al. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol. 1999;(45):344-52.
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N=2 Age: 23 y/o man 11 y.o girl |
Prolonged physical exercise, mainly (20 minutes walk) |
After clonazepam, the attacks stopped |
8080. Bozi M, Bhatia KP. Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease. Mov Disord. 2003;(18):1545-47.
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N=2 Age: 27 and 45 y/o man |
Prolonged or minimal exercises, unilateral and affecting the foot in both patients |
Excessive dopamine release could lead to relative dopamine deficiency, leading to dystonia |
7272. Shirley TL, Rao LM, Hess EJ, Jinnah HA. Paroxysmal dyskinesias in mice. Mov Disord. 2008;(23):259-64.
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N=20 Age: 6 months old |
Mouse mutants, tottering and lethargic mice |
A peak characterized attacks at 40 to 60 minutes, returning to the baseline after 90 to 120 minutes. |
8181. Khan Z, Jinnah HA. Paroxysmal dyskinesias in the lethargic mouse mutant. J Neurosci. 2002;(22):8193-200.
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N=36 Age: 16 weeks old |
Lethargic mutant mice Treadmill and motor behavioral until the onset of dyskinesias |
Attacks promoted by motor activity, after very brief motor activity, few minutes, many times per hour |