A new genetic variant, presenting as young onset rapidly progressive dementia and parkinsonism

Parkinsonism Relat Disord. 2024 Oct:127:105849. doi: 10.1016/j.parkreldis.2023.105849. Epub 2023 Sep 9.

Abstract

There are various neurodegenerative or hereditary causes of Parkinsonism. Therefore, clinicians should consider an increasing range of differential diagnoses when facing a patient with Parkinsonism, especially when associated with additional clinical features. Young-onset Parkinsonism, especially when accompanied by features uncommon in idiopathic Parkinson's disease raises the possibility of genetic etiology. Herein, we present a case of a 40-year-old man with genetic Parkinson's disease, presenting with rapidly progressive dementia. This round will describe our approach to this clinical presentation and the unveiling of a rare genetic condition.

Keywords: Alpha-synuclein; Hereditary parkinsonism; Homozygous SNCA mutation; Rapidly progressive dementia.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age of Onset
  • Dementia* / diagnosis
  • Dementia* / etiology
  • Dementia* / genetics
  • Disease Progression*
  • Humans
  • Male
  • Parkinson Disease / diagnosis
  • Parkinson Disease / genetics
  • Parkinsonian Disorders / diagnosis
  • Parkinsonian Disorders / genetics