TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation

TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation

Pontocerebellar hypoplasia (PCH) type 2 is a very rare autosomal recessive neurodegenerative disorder with prenatal onset that disrupts brain development. We present three patients (two siblings and one unrelated child) with PCH 2 linked to the most common mutation c.919G > T (p.Ala307Ser) in...

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Bibliographic Details
Main Authors: Iliyana Hristova Pacheva, Tihomir Todorov, Ivan Ivanov, Desislava Tartova, Katerina Gaberova, Albena Todorova, Diana Dimitrova
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-01-01
Series:Frontiers in Pediatrics
Subjects:
pontocerebellar hypoplasia
TSEN54 gene
dyskinetic cerebral palsy
microcephaly
severe psychomotor retardation
epilepsy
Online Access:http://journal.frontiersin.org/article/10.3389/fped.2018.00001/full

Internet

http://journal.frontiersin.org/article/10.3389/fped.2018.00001/full

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