Article

Diagnostic clues and pitfalls in pontocerebellar hypoplasia type 2A

2025-06-11

Abstract excerpt

<h4>Introduction</h4> Pontocerebellar hypoplasia type 2A (PCH2A) is a rare autosomal recessive neurodegenerative disease caused by a specific pathogenic variant in the TSEN54 gene (p.A307S). Affected children show early but initially unspecific symptoms, diagnosed primarily through postnatal MRI, with confirmation by genetic testing. This study examines the diagnostic process and key considerations for accurate di...

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Literature Corpus work: ecfceddc-344d-53fc-b4c2-dc36eb130088
DOI: 10.1101/2025.06.10.25328274

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