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Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype-phenotype correlation.

Miguel Tábuas-PereiraRita GuerreiroCelia Kun-RodriguesMaria Rosário AlmeidaJose T BrasIsabel Santana
Published in: Neurogenetics (2022)
Dementia with Lewy bodies is a neurodegenerative disease, sharing features with Parkinson's and Alzheimer's diseases. We report a case of a patient dementia with Lewy bodies carrying combined PSEN1 and ATP7B mutations. A man developed dementia with Lewy bodies starting at the age of 60 years. CSF biomarkers were of Alzheimer's disease and DaTSCAN was abnormal. Whole-exome sequencing revealed a heterozygous p.Ile408Thr PSEN1 variant and a homozygous p.Arg616Trp ATP7B variant. This case reinstates the need of considering ATP7B mutations when evaluating a patient with parkinsonism and supports p.Ile408Thr as a pathogenic PSEN1 variant.
Keyphrases
  • early onset
  • mild cognitive impairment
  • parkinson disease
  • cognitive decline
  • late onset
  • cognitive impairment
  • deep brain stimulation
  • social media
  • gene expression
  • single cell
  • copy number
  • health information