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

Authors
  • Bastos, Filipa1, 2
  • Quinodoz, Mathieu3
  • Addor, Marie-Claude4
  • Royer-Bertrand, Beryl3, 4
  • Fodstad, Heidi4
  • Rivolta, Carlo3, 5
  • Poloni, Claudia1, 6
  • Superti-Furga, Andrea4
  • Roulet-Perez, Eliane1
  • Lebon, Sebastien1
  • 1 Lausanne University Hospital (CHUV), Rue du Bugnon 21, Lausanne, 1011, Switzerland , Lausanne (Switzerland)
  • 2 University College London, 30 Guilford Steet, London, WC1N 1EH, United Kingdom , London (United Kingdom)
  • 3 University of Lausanne, Rue du Bugnon 27, Lausanne, 1011, Switzerland , Lausanne (Switzerland)
  • 4 Lausanne University Hospital (CHUV), Rue du Bugnon 46, Lausanne, 1011, Switzerland , Lausanne (Switzerland)
  • 5 University of Leicester, University Road, Leicester, LE1 7RH, United Kingdom , Leicester (United Kingdom)
  • 6 Sion Hospital, Avenue Grand-Champsec 80, Sion, 1950, Switzerland , Sion (Switzerland)
Type
Published Article
Journal
BMC Neurology
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Jan 13, 2020
Volume
20
Issue
1
Identifiers
DOI: 10.1186/s12883-019-1586-x
Source
Springer Nature
Keywords
License
Green

Abstract

BackgroundA 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 presentationWe report on a child with this monoallelic UBTF variant who presented with progressive disease including regression, episodes of subacute deterioration during febrile illnesses and a remarkable EEG pattern with a transient pattern of semi-periodic slow waves.ConclusionsThis case further supports the phenotype-genotype correlation of neurodegeneration associated with UBTF c.628G>A. Moreover, it brings new insights into the clinical features and EEG that could possibly serve as diagnostic markers of this otherwise nonspecific phenotype.

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