Differences

This shows you the differences between two versions of the page.

--- fgf14 [2025/07/08 03:41] – created administrador
+++ fgf14 [2025/07/08 03:41] (current) – administrador
@@ Line 38: / Line 38: @@
 Impaired hippocampal-dependent learning
 These phenotypes resemble aspects of human SCA27 and support FGF14's critical role in neuronal function.
+----
+An intronic repeat expansion (GAA∙TTC)exp in the FGF14 gene (FGF14 (GAA∙TTC)exp) has recently been found to cause dominantly inherited ataxia SCA27B. The core phenotype consists of late-onset and slowly progressing ataxia with down-beat nystagmus and episodic features. Disease penetrance depends on the number of repeat units and ≥300 is widely used pathogenic threshold for complete penetrance. The Finnish population is genetically unique and SCA27B has not previously been reported in Finland.
+Methods: We investigated FGF14 (GAA∙TTC)exp in a cohort of 96 Finnish patients with suspected hereditary ataxia or ataxia of unknown etiology, of whom 62 patients had no previous genetic diagnosis. We also assessed FGF14 (GAA∙TTC)exp in 561 controls in order to estimate its population prevalence in North Ostrobothnia.
+Results: We found five patients with FGF14 (GAA∙TTC)≥250 giving a frequency of 5.2 % in the ataxia cohort. One patient had a rare biallelic genotype. Four patients had the classical SCA27B phenotype with no atypical features. Two of the patients had a previous genetic diagnosis and digenic contribution could not be excluded. Moreover, we found one patient with suspected FGF14 disease and with (GAA∙TTC)248, but the segregation analysis remained inconclusive. The (GAA∙TTC)≥250 frequency was 2.7 % in the general population. Population prevalence was 1.7 per 100 000 in North Ostrobothnia. The frequency of alleles harboring 200-249 repeats was 2.2 % in patients and 1.5 % in controls.
+Conclusion: Our results suggest that screening of FGF14 expansion should be carried out in Finnish patients with suspected hereditary ataxia or ataxia of unknown etiology
+((Kytövuori L, Pellerin D, Kärppä M, Sipilä JOT, Dicaire MJ, Iruzubieta P, Brais B, Majamaa K. FGF14 (GAA∙TTC) repeat expansion-related ataxia SCA27B is common in Northern Finland. Parkinsonism Relat Disord. 2025 Jul 3;137:107943. doi: 10.1016/j.parkreldis.2025.107943. Epub ahead of print. PMID: 40623333.)).