Article

Identification of FGF14 GAA expansions in Polish patients with undiagnosed cerebellar ataxia – a preliminary study

2025-09-03

Abstract excerpt

<title>Abstract</title> <p><bold>Introduction: </bold>Spinocerebellar ataxia type 27B (SCA27B), caused by an intronic GAA repeat expansion in the <italic>FGF14</italic>gene, has recently emerged as a major cause of late-onset cerebellar ataxia (LOCA). Its prevalence and clinical profile in Central and Eastern Europe remain largely unknown. <bold>Objective:</bold> To determine the frequency and phenotypic characte...

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Literature Corpus work: bba0b086-d813-5741-88a6-8cbf17cf7e5c
DOI: 10.21203/rs.3.rs-7463343/v1

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