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

doi:10.1007/s12311-024-01690-1

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Article

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

Cerebellum (London, England) - 1 Oct 2024

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

Abstract excerpt

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...

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Identifiers

PMID: 38622473
DOI: 10.1007/s12311-024-01690-1
PMCID: PMC11489189

Genes

CLP1
TSEN54

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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