Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.
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13 janvier 2020
- doi: 10.1186/s12883-019-1586-x
- issn: 1471-2377
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info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_8835342E4A2F9
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F. Bastos et al., « Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature. », Serveur académique Lausannois, ID : 10.1186/s12883-019-1586-x
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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.