Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14

European Journal of Medical Genetics
Shiroh MiuraHiroki Shibata

Abstract

Spinocerebellar ataxia 27 (SCA27) is an autosomal dominant SCA caused by variants in the fibroblast growth factor 14 (FGF14) gene. We examined a Japanese SCA patient whose deceased father also suffered from SCA. The patient was a 63-year-old male. He graduated from junior high school but received no further education. The predominant complaint was slowly progressive dysarthria and gait disturbance, which appeared at age 47. He showed pathological saccadic dysmetria, saccadic intrusions into smooth pursuit eye movements, dysarthria, and limb and truncal ataxia. His gait was wide-based but he did not require a walking stick. Limb muscle strength was intact. Deep tendon reflexes were normal or slightly reduced. Pathological reflexes were absent. He demonstrated mildly impaired vibration sense in the lower limbs. There was no urinary dysfunction. Brain MRI showed cerebellar atrophy without brainstem involvement. We first confirmed the absence of repeat expansion in genes known to be responsible for SCAs 1-3, 6-8, 10, 12, 17, 36 and dentatorubral-pallidoluysian atrophy. By exome analysis, we identified a novel heterozygous variant (NM_004115, c.529A>T; Lys177X) in exon 4 of the FGF14 gene. This variant is expected to generate a trun...Continue Reading

Citations

Jun 13, 2019·Current Neurology and Neuroscience Reports·Zheyu XuEng-King Tan
May 24, 2020·International Journal of Molecular Sciences·Giacomo GaroneFrancesco Nicita
Mar 1, 2020·Journal of Internal Medicine·M PaucarP Svenningsson
Aug 18, 2021·Neurogenetics·Ulrich Müller

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