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Article

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.

BMC neurology - 13 Jan 2020

Bastos Filipa, Quinodoz Mathieu, Addor Marie-Claude, Royer-Bertrand Beryl, Fodstad Heidi, Rivolta Carlo, Poloni Claudia, Superti-Furga Andrea, Roulet-Perez Eliane, Lebon Sebastien

Abstract excerpt

BACKGROUND: A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant (NM_001076683.1:c.628G>A, hg19). Phenotype is consistent among these probands with progressive motor, cognitive, and behavioural regression in early to middle childhood. CASE PRESENTATION: We report on a child with this...

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Identifiers

PMID: 31931739
DOI: 10.1186/s12883-019-1586-x
PMCID: PMC6958716

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

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