PCDH12-Related Movement Disorder

Abstract

Protocadherin 12 (PCDH12) is a member of a nonclustered group of cell surface proteins. Mutations in the PCDH12 gene can cause varied phenotypes ranging from epilepsy and movement disorders to congenital malformations and calcifications in neuroimaging. We discussed here a 14-year-old male patient with a movement disorder that mimicked dyskinetic cerebral palsy in the outpatient department; however, exome sequencing revealed a homozygous premature stop codon in exon 1 of the PCDH12(−) gene. The case highlights the importance of careful clinical examination to look for the features that do not match an assigned neurological syndrome and the need for follow-up neuroimaging to look for any progressive changes in all cases of unexplained movement disorder and intellectual impairment.

Keywords

protocadherin - PCDH12 - congenital - infection - movement disorder - dyskinetic cerebral palsy

Authors' Contributions

C.R., P.P., and S.B. prepared the initial draft of manuscript, reviewed the literature, and revised the manuscript for intellectual content. V.B. prepared the neuroimaging inputs and revised the manuscript for intellectual content. A.G.S. contributed in conceptualization, critical review of the manuscript, and edited the final version of manuscript. All the authors approve the manuscript for submission.

Publikationsverlauf

Eingereicht: 11. Oktober 2020

Angenommen: 08. Dezember 2020

Artikel online veröffentlicht:
17. Februar 2021

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