Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome
Tóm tắt
Epilepsy and paroxysmal dyskinesia are two episodic cerebral disorders that can share a common genetic basis. Rare families with infantile seizures and paroxysmal dyskinesia [predominantly paroxysmal kinesigenic dyskinesia (PKD)], co-inherited as a single autosomal dominant trait, have been described (infantile convulsions with paroxysmal choreoathetosis; ICCA syndrome) and a disease gene has been mapped at chromosome 16p12-q12 (ICCA region). We report the clinical picture of seven previously unreported families with ICCA syndrome. The identification of novel ICCA families should contribute to better knowledge regarding the clinical manifestations of ICCA syndrome as well as the search for the underlying genetic defect(s).
Tài liệu tham khảo
Auburger G, Ratzlaff T, Lunkes A, et al. A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. Genomics 1996; 31: 90–94.
Bennett LB, Roach ES, Bowcock AM. A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. Neurology 2000; 54: 125–130.
Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004; 63: 2280–2287.
Caraballo R. Benign familial and non familial infantile seizures. In: Fejerman N, Caraballo R, eds. Benign focal epilepsies in infancy, childhood and adolescence. Paris: John Libbey Eurotext, 2007: 31–49.
Caraballo RH, Cersósimo RO, Espeche A, Fejerman N. Benign familial and non-familial infantile seizures: a study of 64 patients. Epileptic Disord 2003; 5: 45–49.
Caraballo R, Pavek S, Lemainque A, et al. Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Am J Hum Genet 2001; 68: 788–794.
Guerrini R. Idiopathic epilepsy and paroxysmal dyskinesia. Epilepsia 2001; 42(Suppl. 3): 36–41.
Hattori H, Fujii T, Nigami H, Higuchi Y, Tsuji M, Hamada Y. Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis. Brain Dev 2000; 22: 432–435.
Hudgins RL, Corbin KB. An uncommon seizure disorder: familial paroxysmal choreoathetosis. Brain 1966; 89: 199–204.
Kato N, Sadamatsu M, Kikuchi T, Niikawa N, Fukuyama Y. Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions. Epilepsy Res 2006; 70(Suppl 1): S174–S184.
Lee HY, Xu Y, Huang Y, et al. The gene for paroxysmal nonkinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet 2004; 13: 3161–3170.
Lee WL, Tay A, Ong HT, Goh LM, Monaco AP, Szepetowski P. Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family. Hum Genet 1998; 103: 608–612.
Pryles CV, Livingston S, Ford FR. Familial paroxysmal choreoathetosis of Mount and Reback: study of a second family in which this condition is found in association with epilepsy. Pediatrics 1952; 9: 44–47.
Rochette J, Roll P, Szepetowski P. Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes. J Med Genet 2008; 45: 773–779.
Sadamatsu M, Masui A, Sakai T, Kunugi H, Nanko S, Kato N. Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis. Epilepsia 1999; 40: 942–949.
Striano P, Lispi ML, Gennaro E, et al. Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. Epilepsia 2006; 47: 1029–1034.
Suls A, Mullen SA, Weber YG, et al. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol 2009; 66: 415–419.
Suls A, Dedeken P, Goffin K, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008; 131: 1831–1844.
Swoboda KJ, Soong B, McKenna C, et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology 2000; 55: 224–230.
Szepetowski P. Benign familial infantile seizures and paroxysmal choreoathetosis. In: Fejerman N, Caraballo R, eds. Benign focal epilepsies in infancy, childhood and adolescence. Paris: John Libbey Eurotext, 2007: 51–62.
Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997; 61: 889–898.
Thiriaux A, de St Martin A, Vercueil L, et al. Co-occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: clinical, EEG, and SPECT characterization of episodic events. Mov Disord 2002; 17: 98–104.
Tomita H, Nagamitsu S, Wakui K, et al. Paroxysmal kinesigenic choreoathetosis locus map to chromosome 16p11.2-q12.1. Am J Hum Genet 1999; 65: 1688–1697.
Valente EM, Spacey SD, Wali GM, et al. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain 2000; 123: 2040–2045.
Vanmolkot KR, Kors EE, Hottenga JJ, et al. Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol 2003; 54: 360–366.
Vigevano F, Fusco L, Di Capua M, Ricci S, Sebastianelli R, Lucchini P. Benign infantile familial convulsions. Eur J Pediatr 1992; 151: 608–612.
Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 2008; 118: 2157–2168.