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PMPCA-Related Encephalopathy by Vibhuti Rambani; Miriam Kolnikova; Michal Cagalinec; Martina Skopkova; Daniela Gasperikova is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is PMPCA-Related Encephalopathy about?

## Objectives The __PMPCA__ gene encodes the α-subunit of mitochondrial processing peptidase (α-MPP), an enzyme responsible for cleavage of nuclear-encoded mitochondrial precursor proteins after their import into mitochondria. Mutations in this gene have been described in patients with nonprogressive or slow progressive cerebellar ataxia, with variable age at onset and severity. Cerebellar atrophy and striatum changes were found in severe cases. ## Methods The patient was diagnosed using whole exome sequencing. Skin fibroblasts were used for confirmation of α-MPP levels using western blot and mitochondrial morphology assessment of immunofluorescent confocal microscopy images. ## Results Two novel compound heterozygous variants in the __PMPCA__ gene (p.Tyr241Ser and p.Met251Val) were identified in an 8-year-old proband with progressive spastic quadriparesis, delayed psychomotor development, and intellectual disability, with onset at 13 months. The brain imaging showed cortical and cerebellar atrophy, reduced volume of basal ganglia with striatum hyperintensity, and periventricular white matter changes. The patient's fibroblasts showed a decreased α-MPP level and reduced and fragment

Who reads PMPCA-Related Encephalopathy?

Author

Vibhuti Rambani; Miriam Kolnikova; Michal Cagalinec; Martina Skopkova; Daniela Gasperikova

Publisher

Wolters Kluwer

Published

2023

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)