Journal of the neurological sciences · 2026
Challenges in the diagnosis of spinocerebellar ATAXIA 27B.
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Pons Núria Caballol, Quirós Alejandro Peral, Planas-Ballvé Anna, Del Toro Paula Lombardo, Sendra Imma Hernan, Rivera Asunción Ávila
Аннотация
OBJECTIVE: To characterize the clinical, radiologic, and genetic spectrum of patients with (GAA) repeat expansions in FGF14 gene and to analyze diagnostic challenges associated with spinocerebellar ataxia type 27B (SCA27B).
METHODS: We retrospectively evaluated a Spanish cohort of 53 adults with idiopathic late-onset cerebellar ataxia. The intronic FGF14 repeat locus was examined by fluorescent long-range PCR to determine allele size, by bidirectional repeat-primed PCR to verify the presence and nature of the expansion. Clinical data, neuroimaging findings, and response to 4-aminopyridine were collected.
RESULTS: Among 53 ataxia patients, 39.62% (21/53) carried uninterrupted >200 (GAA) repeats in FGF14, all in heterozygosity. Of these, 71.42% (15/21) exhibited >250 repeats, corresponding to 28.30% of the total cohort, and 73.33% (11/15) had >300 repeats, representing 20.75% overall. Additionally, 11.32% (6/53) of patients carried (GAA) 200-249 repeats, four of whom presented phenotypes compatible with SCA27B. Neuroimaging showed cerebellar atrophy in 7/21 and superior cerebellar peduncle hyperintensity in MRI of 7/17, including two patients with 200-249 (GAA) repeats. Seventeen patients received 4-aminopyridine; 11 continued therapy and 9 reported clinical improvement.
CONCLUSIONS: SCA27B is a frequent cause of idiopathic late-onset cerebellar ataxia. Downbeat nystagmus, episodic symptoms, and superior cerebellar peduncle abnormalities increase diagnostic suspicion. Expansions >250 (GAA) repeats are highly predictive, whereas 200-250 may be pathogenic in compatible phenotypes. Early identification is difficult but crucial given the potential therapeutic benefit of 4-aminopyridine.
METHODS: We retrospectively evaluated a Spanish cohort of 53 adults with idiopathic late-onset cerebellar ataxia. The intronic FGF14 repeat locus was examined by fluorescent long-range PCR to determine allele size, by bidirectional repeat-primed PCR to verify the presence and nature of the expansion. Clinical data, neuroimaging findings, and response to 4-aminopyridine were collected.
RESULTS: Among 53 ataxia patients, 39.62% (21/53) carried uninterrupted >200 (GAA) repeats in FGF14, all in heterozygosity. Of these, 71.42% (15/21) exhibited >250 repeats, corresponding to 28.30% of the total cohort, and 73.33% (11/15) had >300 repeats, representing 20.75% overall. Additionally, 11.32% (6/53) of patients carried (GAA) 200-249 repeats, four of whom presented phenotypes compatible with SCA27B. Neuroimaging showed cerebellar atrophy in 7/21 and superior cerebellar peduncle hyperintensity in MRI of 7/17, including two patients with 200-249 (GAA) repeats. Seventeen patients received 4-aminopyridine; 11 continued therapy and 9 reported clinical improvement.
CONCLUSIONS: SCA27B is a frequent cause of idiopathic late-onset cerebellar ataxia. Downbeat nystagmus, episodic symptoms, and superior cerebellar peduncle abnormalities increase diagnostic suspicion. Expansions >250 (GAA) repeats are highly predictive, whereas 200-250 may be pathogenic in compatible phenotypes. Early identification is difficult but crucial given the potential therapeutic benefit of 4-aminopyridine.