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

Détails

Ressource 1Télécharger: 31931739_BIB_8835342E4A2F.pdf (2245.32 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_8835342E4A2F
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.
Périodique
BMC neurology
Auteur(s)
Bastos F., Quinodoz M., Addor M.C., Royer-Bertrand B., Fodstad H., Rivolta C., Poloni C., Superti-Furga A., Roulet-Perez E., Lebon S.
ISSN
1471-2377 (Electronic)
ISSN-L
1471-2377
Statut éditorial
Publié
Date de publication
13/01/2020
Peer-reviewed
Oui
Volume
20
Numéro
1
Pages
17
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Review
Publication Status: epublish
Résumé
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.
We 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.
This 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.
Mots-clé
Child, Genetic Variation, Genotype, Humans, Male, Neurodegenerative Diseases/genetics, Phenotype, Pol1 Transcription Initiation Complex Proteins/genetics, EEG, Neurodegeneration, UBTF
Pubmed
Web of science
Open Access
Oui
Création de la notice
17/01/2020 16:22
Dernière modification de la notice
15/01/2021 7:10
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