PP05.11 – 3025: A new syndrome with postnatal microcephaly, mental retardation, spastic quadriplegia and pontocerebellar atrophy in Caucasus-Jewish families (original) (raw)

2015, European Journal of Paediatric Neurology

AI-generated Abstract

A novel mutation in the MED17 gene has been identified in Caucasus-Jewish families, leading to a syndrome characterized by postnatal microcephaly, mental retardation, spastic quadriplegia, and pontocerebellar atrophy. A cohort of 12 affected children displayed significant clinical features and MRI findings consistent with this syndrome. The findings underscore the importance of genetic screening for early diagnosis and intervention.

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