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Article

Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2018

Hady-Cohen Ronen, Ben-Pazi Hila, Adir Vardit, Yosovich Keren, Blumkin Luba, Lerman-Sagie Tally, Lev Dorit

Abstract excerpt

In 2003, a new syndrome was described in the Sephardi Jewish population, named progressive cerebello-cerebral atrophy (PCCA) based on the typical neuroradiological findings. Following the identification of the causal genes in 2010 and 2014, two types were defined: PCCA type 1 due to SEPSECS mutations and PCCA type 2 due to VPS53 mutations. Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy...

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Source

Identifiers

PMID: 30100179
DOI: 10.1016/j.ejpn.2018.07.003

Genes

PCCA
SEPSECS
VPS53

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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