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Article

Functional Characterization of a Novel Splice-Altering Intronic Variant in AMPD2 Associated with Pontocerebellar Hypoplasia Type 9.

Cerebellum (London, England) - 12 May 2026

Peker Alp, Ak Bilgesu, Aykut Ayça, Akın Haluk, Durmaz Asude

Abstract excerpt

BACKGROUND: A two-year-old female patient was referred to our clinic due to speech and gait disturbances, strabismus, vacant staring, truncal hypotonia, and spasticity in the extremities. The patient had a history of a complicated delivery resulting in perinatal asphyxia. Electrocardiogram (ECG), echocardiogram (ECHO) and abdominal ultrasound findings reported no abnormalities. Previously performed spinal...

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Identifiers

PMID: 42115434
DOI: 10.1007/s12311-026-02022-1

Genes

AMPD2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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