<%server.execute "isdev.asp"%> Proline-rich transmembrane protein 2 gene mutation in a sporadic paroxysmal kinesigenic dyskinesia Jain P, Sharma S, Breedveld G, Bonifati V, Aneja S - J Pediatr Neurosci
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LETTER TO THE EDITOR
Year : 2017  |  Volume : 12  |  Issue : 1  |  Page : 112-113
 

Proline-rich transmembrane protein 2 gene mutation in a sporadic paroxysmal kinesigenic dyskinesia


1 Division of Pediatric Neurology, Department of Neonatal, Pediatric and Adolescent Medicine, BLK Super Speciality Hospital, New Delhi; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G1X8
2 Department of Pediatrics, Division of Pediatric Neurology, Lady Harding Medical College, Kalawati Saran Children Hospital, New Delhi, India
3 Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands

Date of Web Publication4-May-2017

Correspondence Address:
Puneet Jain
Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario

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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_148_16

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How to cite this article:
Jain P, Sharma S, Breedveld G, Bonifati V, Aneja S. Proline-rich transmembrane protein 2 gene mutation in a sporadic paroxysmal kinesigenic dyskinesia. J Pediatr Neurosci 2017;12:112-3

How to cite this URL:
Jain P, Sharma S, Breedveld G, Bonifati V, Aneja S. Proline-rich transmembrane protein 2 gene mutation in a sporadic paroxysmal kinesigenic dyskinesia. J Pediatr Neurosci [serial online] 2017 [cited 2022 Jan 23];12:112-3. Available from: https://www.pediatricneurosciences.com/text.asp?2017/12/1/112/205658




Dear Sir,

A 12-year-old boy presented with paroxysmal events for the last 3 months. He had no adverse perinatal events and was developmentally normal. He experienced brief episodes (20–60 s) of abnormal posturing of upper and lower limbs, usually on the right side. These episodes were triggered by sudden movements like sudden rise from sitting or lying position and sometimes by startle. There was absent premonitory sensation, preserved consciousness during the events, and no “postictal” drowsiness. The frequency was variable from 3 to 5 episodes/day to once in 2–3 days. There were no other body movements, myoclonus, dance-like movements, neuroregression, and hearing or vision impairment. There was no history of headaches or seizures in infancy. The family history was unremarkable for any seizures, movement disorder, or migraine.

Examination was normal. Magnetic resonance imaging of his brain and his “interictal” electroencephalogram (EEG) were normal. He had poor response to oral valproate, started by a local practitioner. A possibility of paroxysmal kinesigenic dyskinesia (PKD) was considered in view of sudden movement/startle-induced paroxysmal dyskinesia. He had complete resolution of symptoms on oxcarbazepine. By direct sequencing of the entire coding region and exon-intron boundaries of the proline-rich transmembrane protein 2 (PRRT2) gene, the heterozygous mutation, c. 649dupC p. Arg217Profs*8 mutation, was identified in the patient. This mutation has been previously reported in patients with PKD from several parts of the world.[1]

PKD or DYT10, a rare movement disorder, may be sporadic or familial (autosomal dominant with incomplete penetrance). PRRT2 is the major gene responsible for PKD.[2] The encoded protein, PRRT2, has presynaptic localization and appears to be involved in exocytosis and neurotransmitter release.

The classical PKD phenotype is characterized by onset in childhood or adolescence; frequent brief attacks of dystonia, choreoathetosis, and/or ballismus with preserved consciousness; precipitation by sudden voluntary movements or startle; frequent aura; normal interictal neurological examination; and excellent response to anticonvulsants.[3],[4],[5] The most effective drugs in PKD are voltage-gated sodium channel blockers (carbamazepine, oxcarbazepine, phenytoin, lacosamide).

The common misdiagnosis is epilepsy, but preserved consciousness during the attacks, absence of postictal state, and absence of “ictal” EEG abnormalities favor PKD.

The spectrum of PRRT2-associated diseases also includes benign familial infantile seizures, infantile convulsions with choreoathetosis, episodic ataxia, hemiplegic migraine, and benign paroxysmal torticollis of infancy.[2]

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
van Vliet R, Breedveld G, de Rijk-van Andel J, Brilstra E, Verbeek N, Verschuuren-Bemelmans C, et al. PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. Neurology 2012;79:777-84.  Back to cited text no. 1
[PUBMED]    
2.
Méneret A, Gaudebout C, Riant F, Vidailhet M, Depienne C, Roze E. PRRT2 mutations and paroxysmal disorders. Eur J Neurol 2013;20:872-8.  Back to cited text no. 2
    
3.
Ebrahimi-Fakhari D, Kang KS, Kotzaeridou U, Kohlhase J, Klein C, Assmann BE. Child neurology: PRRT2-associated movement disorders and differential diagnoses. Neurology 2014;83:1680-3.  Back to cited text no. 3
    
4.
Sun W, Li J, Zhu Y, Yan X, Wang W. Clinical features of paroxysmal kinesigenic dyskinesia: Report of 24 cases. Epilepsy Behav 2012;25:695-9.  Back to cited text no. 4
    
5.
Müller U. The monogenic primary dystonias. Brain 2009;132:2005-25.Dear Sir,  Back to cited text no. 5
    




 

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