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Article

Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10.

Pediatric neurology - 1 Sept 2024

Guler Serhat, Aslanger Ayca Dilruba, Uygur Sahin Turkan, Alkan Alpay, Yalcinkaya Cengiz, Saltik Sema, Yesil Gözde

Abstract excerpt

BACKGROUND: Pontocerebellar hypoplasia type 10 (PCH10) due to CLP1 gene mutations is characterized by structural brain anomalies, progressive microcephaly, severe intellectual and physical disabilities, and spasticity. In this follow-up study, evolution of phenotypic and neurological characteristics of patients with PCH10 is discussed. METHODS: Phenotype, growth parameters, motor functions, developmental tests,...

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PMID: 38925092
DOI: 10.1016/j.pediatrneurol.2024.05.017

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