AI Article Synopsis
- - Mutations in the SEPSECS gene have been linked to pontocerebellar hypoplasia type 2D, a serious neurodegenerative disorder that affects the brain structures responsible for motor control and cognitive function.
- - The condition typically leads to severe disabilities and is often fatal during infancy; however, a case study presents a 23-year-old woman who showed milder symptoms and progressive issues related to cerebellar function and cognition.
- - Whole exome sequencing revealed a specific mutation in the SEPSECS gene, suggesting that abnormalities in selenoprotein synthesis can cause less severe cerebellar atrophy that manifests later in life.
Article Abstract
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 impairment, in whom a homozygous missense mutation in the SEPSECS gene (c.1321G>A; p.Gly441Arg) was identified with whole exome sequencing. Our findings underline that defects in selenoprotein synthesis can also result in milder cerebellar atrophy presenting at a later age.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133186 | PMC |
| http://dx.doi.org/10.1007/s10545-018-0151-x | DOI Listing |
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