Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation

Sheerin, Una Marie; Stamelou, María; Charlesworth, Gavin; Shiner, Tamara; Spacey, Sian; Valente, Enza Maria; Wood, Nicholas W.; Bhatia, Kailash P.

doi:10.1007/s00415-012-6747-4

Cited by 15 publications

(10 citation statements)

References 11 publications

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“…Comparison of the percentage of patients with seizure revealed no statistically significant difference between patients with and without PPRT2 gene mutations ( p =0.060), in accordance with previous observations 16. The evaluation of various non-dyskinetic symptoms in PKD patients could be important because many previous studies already have found various non-dyskinetic symptoms in PKD patients6-9,12 and PRRT2 gene mutations in other diseases 14,15. Furthermore, PRRT2 gene mutations can be inherited with only non-dyskinetic symptoms 6,8,9…”

Section: Discussionsupporting

confidence: 85%

Clinical Manifestations in Paroxysmal Kinesigenic Dyskinesia Patients with Proline-Rich Transmembrane Protein 2 Gene Mutation

et al. 2014

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Background and PurposeGiven the diverse phenotypes including combined non-dyskinetic symptoms in patients harboring mutations of the gene encoding proline-rich transmembrane protein 2 (PRRT2), the clinical significance of these mutations in paroxysmal kinesigenic dyskinesia (PKD) is questionable. In this study, we investigated the clinical characteristics of PKD patients with PRRT2 mutations.MethodsFamilial and sporadic PKD patients were enrolled and PRRT2 gene sequencing was performed. Demographic and clinical data were compared between PKD patients with and without a PRRT2 mutation.ResultsAmong the enrolled PKD patients (8 patients from 5 PKD families and 19 sporadic patients), PRRT2 mutations were detected in 3 PKD families (60%) and 2 sporadic cases (10.5%). All familial patients with a PRRT2 gene mutation had the c.649dupC mutation, which is the most commonly reported mutation. Two uncommon mutations (c.649delC and c.629dupC) were detected only in the sporadic cases. PKD patients with PRRT2 mutation were younger at symptom onset and had more non-dyskinetic symptoms than those without PRRT2 mutation. However, the characteristics of dyskinetic movement did not differ between the two groups.ConclusionsThis is the first study of PRRT2 mutations in Korea. The presence of a PRRT2 mutation was more strongly related to familial PKD, and was clinically related with earlier age of onset and common non-dyskinetic symptoms in PKD patients.

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Section: Discussionsupporting

confidence: 85%

Clinical Manifestations in Paroxysmal Kinesigenic Dyskinesia Patients with Proline-Rich Transmembrane Protein 2 Gene Mutation

et al. 2014

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“…The search strategy yielded 73 results, of which many were focused on genetics of PxDs and therefore did not provide sufficient clinical information for the patients. According to the inclusion and exclusion criteria, we eventually selected 43 articles describing 500 genetically proven PxDs cases.…”

Section: Resultsmentioning

confidence: 99%

“…Three‐hundred seventy‐four patients (247 males and 127 females) have been identified: 276 cases from 104 families and 98 sporadic cases . Clinical features of these patients are summarized in Table A.…”

Section: Resultsmentioning

confidence: 99%

Paroxysmal dyskinesias revisited: A review of 500 genetically proven cases and a new classification

2014

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Paroxysmal movement disorders are a heterogeneous group of conditions manifesting as episodic dyskinesia with sudden onset and lasting a variable duration. Based on the difference of precipitating factors, three forms are clearly recognized, namely, paroxysmal kinesigenic (PKD), non-kinesigenic (PNKD), and exercise induced (PED). The elucidation of the genetic cause of various forms of paroxysmal dyskinesia has led to better clinical definitions based on genotype-phenotype correlations in the familial forms. However, it has been increasingly recognized that (1) there is a marked pleiotropy of mutations in such genes with still expanding clinical spectra; and (2) not all patients clinically presenting with either PKD, PNKD, or PED have mutations in these genes. We aimed to review the clinical features of 500 genetically proven cases published to date. Based on our results, it is clear that there is not a complete phenotypic-genotypic correlation, and therefore we suggest an algorithm to lead the genetic analyses. Given the fact that the reliability of current clinical categorization is not entirely valid, we further propose a novel classification for paroxysmal dyskinesias, which takes into account the recent genetic discoveries in this field.

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“…This association was initially described in a family with heterogeneous paroxysmal phenotypes including infantile seizures, PKD, HM, and paroxysmal torticollis 33. Migraine was also noted as a feature in some families where the primary phenotype was PKD, ICCA or BFIE 24 31 44 46 52 53. A small number of families with PRRT2 mutations have been described in which migraine, most commonly HM, is the only phenotype observed 44 46.…”

Section: Identification Of Mutations In Prrt2mentioning

confidence: 99%

Role ofPRRT2in common paroxysmal neurological disorders: a gene with remarkable pleiotropy

Heron

Dibbens

2013

J Med Genet

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Mutations in the gene PRRT2 encoding proline-rich transmembrane protein 2 have recently been identified as the cause of three clinical entities: benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis (ICCA) syndrome, and paroxysmal kinesigenic dyskinesia (PKD). Patients with ICCA have both BFIE and PKD and families with ICCA may contain individuals who exhibit all three phenotypes. These three phenotypes were all mapped by linkage analyses to the pericentromeric region of chromosome 16, and were hypothesised to have the same genetic basis due to the co-occurrence of the disorders in some families. Despite considerable effort, the gene or genes for BFIE, ICCA, and PKD were not identified for many years after the linkage region was identified. Mutations in the gene PRRT2 were identified in several Chinese families with PKD, suggesting that the gene may also be responsible for ICCA and BFIE in families linked to the chromosome 16 locus. This was demonstrated to be the case, with the majority of families with ICCA and BFIE found to have PRRT2 mutations. The vast majority of these mutations are truncating and are predicted to lead to haploinsufficiency. PRRT2 is a largely uncharacterised protein. It is expressed in the brain and has been demonstrated to interact with SNAP-25, a component of the molecular machinery involved in the release of neurotransmitters at the presynaptic membrane. Therefore, the PRRT2 protein may play a role in this process. However, the molecular mechanisms underlying the remarkable pleiotropy associated with PRRT2 mutations have still to be determined.

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Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation

Cited by 15 publications

References 11 publications

Clinical Manifestations in Paroxysmal Kinesigenic Dyskinesia Patients with Proline-Rich Transmembrane Protein 2 Gene Mutation

Clinical Manifestations in Paroxysmal Kinesigenic Dyskinesia Patients with Proline-Rich Transmembrane Protein 2 Gene Mutation

Paroxysmal dyskinesias revisited: A review of 500 genetically proven cases and a new classification

Role ofPRRT2in common paroxysmal neurological disorders: a gene with remarkable pleiotropy

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