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Article

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).

Journal of medical genetics - 1 May 2014

Feinstein Miora, Flusser Hagit, Lerman-Sagie Tally, Ben-Zeev Bruria, Lev Dorit, Agamy Orly, Cohen Idan, Kadir Rotem, Sivan Sara, Leshinsky-Silver Esther, Markus Barak, Birk Ohad S

Abstract excerpt

BACKGROUND: Progressive cerebello-cerebral atrophy (PCCA) leading to profound mental retardation, progressive microcephaly, spasticity and early onset epilepsy, was diagnosed in four non-consanguineous apparently unrelated families of Jewish Moroccan ancestry. Common founder mutation(s) were assumed. METHODS: Genome-wide linkage analysis and whole exome sequencing were done, followed by realtime PCR and...

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Source

Identifiers

PMID: 24577744
DOI: 10.1136/jmedgenet-2013-101823

Genes

VPS53
PCCA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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