Vanishing white matter disease (VWM) is an autosomal recessive leukodystrophy caused by mutations genes encoding the translational initiation factor 2B: EIF2B1-EIFB5. It is a heterogeneous neurological disorder with prominent cerebellar ataxia and spasticity in childhood-onset form and behavioural changes, dementia and seizures in adult-onset form (̴15% of cases). We present the case of a 60 years old patient, MTHFR homozygous, presenting white matter lesions and a subcortical vascular encephalopathy being diagnosed. To investigate a possible genetic cause, suspecting CADASIL, genetic and genomic analysis were performed
Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease
PL Lanza;M Muglia;F Cavalcanti;P Spadafora;N Romeo;O Gallo;R Mazzei;A Qualtieri;L Citrigno
2021
Abstract
Vanishing white matter disease (VWM) is an autosomal recessive leukodystrophy caused by mutations genes encoding the translational initiation factor 2B: EIF2B1-EIFB5. It is a heterogeneous neurological disorder with prominent cerebellar ataxia and spasticity in childhood-onset form and behavioural changes, dementia and seizures in adult-onset form (̴15% of cases). We present the case of a 60 years old patient, MTHFR homozygous, presenting white matter lesions and a subcortical vascular encephalopathy being diagnosed. To investigate a possible genetic cause, suspecting CADASIL, genetic and genomic analysis were performed| File | Dimensione | Formato | |
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Descrizione: Genomic analysis identify a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease
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