Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report

• Published in: Brain & development (Tokyo. 1979) 2019-08, Vol.41 (7), p.630-633
• Main Authors: Mizuno, Tomoko, Kashimada, Ayako, Nomura, Toshihiro, Moriyama, Kengo, Yokoyama, Haruna, Hasegawa, Setsuko, Takagi, Masatoshi, Mizutani, Shuki
• Format: Article
• Language: English
• Subjects: Child; Female; Humans; Infantile-onset; Japan; Magnetic Resonance Imaging; Mutation; Mutation, Missense; Spectrin - genetics; Spectrin - metabolism; Spinocerebellar ataxia; Spinocerebellar Ataxias - genetics; Spinocerebellar Ataxias - physiopathology; Spinocerebellar Degenerations - genetics; SPTBN2; β-III spectrin
• ISSN: 0387-7604; 1872-7131
• DOI: 10.1016/j.braindev.2019.03.002

Spinocerebellar ataxia type 5 (SCA5), a dominant spinocerebellar ataxia is caused by spectrin beta nonerythrocytic 2 gene (SPTBN2) mutation. It typically consists of a slow progressive cerebellar ataxia with an onset principally in adulthood. Here, we report on the first Japanese patient with infantile-onset SCA5 associated with a novel heterozygous SPTBN2 mutation. The patient, a 6-year-old girl, developed delayed motor development and unsteady arm movement during infancy. She also showed gaze-evoked nystagmus, saccadic eye pursuit, dysarthria, dysmetria, intention tremor and mild intellectual disability. Brain MRI revealed moderate cerebellar atrophy and mild pontine atrophy. Comprehensive target capture sequencing to identify the causative gene identified a novel missense mutation in SPTBN2 (c.1309C