1. Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.
- Author
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Rea G, Tirupathi S, Williams J, Clouston P, and Morrison PJ
- Subjects
- Ataxia genetics, Cerebral Palsy genetics, Genetic Diseases, Inborn genetics, Humans, Infant, Male, Spinocerebellar Ataxias genetics, Ataxia complications, Ataxia diagnostic imaging, Cerebral Palsy complications, Cerebral Palsy diagnostic imaging, Genetic Diseases, Inborn complications, Genetic Diseases, Inborn diagnostic imaging, Spinocerebellar Ataxias complications, Spinocerebellar Ataxias diagnostic imaging
- Abstract
Spinocerebellar ataxia type 5 (SCA-5) is a predominantly slowly progressive adult onset ataxia. We describe a child with a presentation of ataxic cerebral palsy (CP) and developmental delay at 6 months of age. Genetic testing confirmed a c.812C>T p.(Thr271Ile) mutation within the SPTBN2 gene. Seven previous cases of infantile onset SCA-5 are reported in the literature, four of which had a CP presentation. Early onset of SCA-5 presents with ataxic CP and is a rare cause of cerebral palsy.
- Published
- 2020
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