Successful control with carbamazepine of family with paroxysmal kinesigenic dyskinesia of PRRT2 mutation
Tóm tắt
Paroxysmal kinesigenic dyskinesia (PKD), a rare paroxysmal movement disorder often misdiagnosed as epilepsy, is characterized by recurrent, brief dyskinesia attacks triggered by sudden voluntary movement. Pathophysiological mechanism of PKD remains not well understood. Ion channelopathy has been suggested, since the disease responds well to ion channel blockers. Mutations in proline-rich transmembrane protein 2 (PRRT2) were recently identified in patients with familial PKD. To extend these genetic reports, we studied a family with clinical manifestations of familial PKD responding well to low dose carbamazepine. Therapeutic dose ranged from 1.5 to 2.0 mg/ kg/day, below that in seizure control. One insertion mutation c.649_650insC (p.P217fsX7) was identified in three patients of the family. This study avers PRRT2’s high sensitivity for PKD phenotype. Identification of genes underlying pathogenesis will enhance diagnosis and treatment. Function of PRRT2 and its role in PKD warrant further investigation.
Tài liệu tham khảo
Houser MK, Soland VL, Bhatia KP, Quinn NP, Marsden CD. Paroxysmal inesigenic choreoathetosis: a report of 26 patients. J Neurol 1999; 246:120–26.
Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995; 38:571–79.
Bhatia KP. The paroxysmal dyskinesias. J Neurol 1999; 246:149–55.
Nagamitsu S, Matsuishi T, Hashimoto K, et al. Multicenter study of paroxysmal dyskinesias in Japan: clinical and pedigree analysis. Mov Disord 1999; 4:658–63.
Zorzi G, Conti C, Erba A, Granata T, Angelini L, Nardocci N. Paroxysmal yskinesias in childhood. Pediatr Neurol 2003; 28:168–72.
Hwang WJ, Lu CS, Tsai JJ. Clinical manifestations of 20 Taiwanese patients with paroxysmal kinesigenic dyskinesia. Acta Neurol Scand 1998; 98:340–45.
Ohmori I, Ohtsuka Y, Ogino T, Yoshinaga H, KobayashiK, Oka E. Relationship between paroxysmal kinesigenic choreoathetosis and epilepsy. Neuropediatrics 2002;33:15–20.
Tan LC, Tan AK, Tjia H. Paroxysmal kinesigenic choreoathetosis in Singapore and its relationship to epilepsy. Clin Neurol Neurosurg 1998; 100:187–92.
Hirata K, Katayama S, Saito T, et al. Paroxysmal kinesigenic choreoathetosis with abnormal electroencephalogram during attacks. Epilepsia 1991; 32:492–94.
Ptacek LJ. Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system. Neuromuscul Disord 1997; 7: 250–55.
Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, et al. Exome sequencing dentifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic yskinesia. Nat Genet 2011; 43: 1252–55.
Wang JL, Cao L, Li XH, Hu ZM, Li JD, et al. Identification of PRRT2 asthe causative gene of paroxysmal kinesigenic dyskinesias. Brain 2012;134: 490–98.
Li J, Zhu X, Wang X, Sun W, Feng B, et al. Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. J Med Genet 2012; 49: 76–78.
Lee HY, Huang Y, Bruneau N, Roll P, Roberson EDO, et al. Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsion. Cell Reports 2012; 1: 1–11.
Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012; 90: 152–60.
Choi IS, Kim JH, Jung WY. Paroxysmal kinesigenic choreoathetosis. Yonsei Med J 1996; 37:68–71.
Ko CH, Kong CK, Ngai WT, Ma KM. Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis. Pediatr Neurol 2001; 24:225–27.
Perlmutter JS, Raichle ME. Pure hemidystonia with basal ganglion abnormalities on positron emission tomography. Ann Neurol 1984; 15:228–33.
Hayashi R, Hanyu N, Yahikozawa H, Yanagisawa N. Ictal muscle discharge pattern and SPECT in paroxysmal kinesigenic choreoathetosis. Electromyogr Clin Neurophysiol 1997; 37:89–94.
Wein T, Andermann F, Silver K, Dubeau F, Andermann E, Rourke-Frew F, Keene D. Exquisite sensitivity of paroxysmal kinesigenic choreoathetosis to carbamazepine. Neurology 1996; 47:1104–06.
Gokcay A, Gokcay F. Oxcarbazepine therapy in paroxysmal kinesigenic choreoathetosis. Acta Neurol Scand 2000; 101:344–45.
Uberall MA, Wenzel D. Effectiveness of lamotrigine in children with paroxysmal kinesigenic choreoathetosis. Dev Med Child Neurol 2000; 42:699–700.
Liu Q, Qi Z, Wan XH, Li JY, Shi L, et al. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. J Med Genet 2012; 49: 79–82.