Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study

Dilek Cavusoglu,Gulten Ozturk,Dilsad Turkdogan,Semra Hiz Kurul,Uluc Yis,Mustafa Komur,Faruk Incecik,Bulent Kara, Turkan Sahin,Olcay Unver,Cengiz Dilber,Gulen Gul Mert,Cagatay Gunay,Gamze Sarikaya Uzan, Ozlem Ersoy,Yavuz Oktay, Serdar Mermer,Gokcen Oz Tuncer,Olcay Gungor,Gul Demet Kaya Ozcora, Ugur Gumus,Ozlem Sezer,Gokhan Ozan Cetin, Fatma Demir,Arzu Yilmaz,Gurkan Gurbuz,Meral Topcu,Haluk Topaloglu,Ahmet Cevdet Ceylan, Serdar Ceylaner,Joseph G. Gleeson,Dilara Fusun Icagasioglu,F. Mujgan Sonmez

The Cerebellum（2024）

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摘要

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging findings of the patients with diagnosed PCH with confirmed genetic analysis. We collected available clinical data, laboratory, and imaging findings in our retrospective multicenter national study of 64 patients with PCH in Turkey. The genetic analysis included the whole-exome sequencing (WES), targeted next-generation sequencing (NGS), or single gene analysis. Sixty-four patients with PCH were 28 female (43.8

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关键词

Pontocerebellar Hypoplasia,CLP1,Genotype,Phenotype

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