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A SEPSECS mutation in a 23‐year‐old woman with microcephaly and progressive cerebellar ataxia

20 Feb 2018

Abstract excerpt

Mutations in the SEPSECS gene are associated with pontocerebellar hypoplasia type 2D. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare autosomal recessive neurodegenerative disorders, mainly affecting pons and cerebellum. Patients have severe motor and cognitive impairments and often die during infancy. Here, we report a 23-year-old woman with slowly progressive cerebellar ataxia and cognitive...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 29464431
DOI: 10.1007/s10545-018-0151-x

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