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Mimics or Multiplicity: 2 Cases of Rare Neurological Conditions Discovered Following Presentation with Richardson's Syndrome Phenotype.

Shane LyonsTimothy LynchRichard WalshSean O'Dowd
Published in: Movement disorders clinical practice (2023)
These observations raised the possibility that HD and fragile-X tremor-ataxia syndrome may on occasion present with PSP-RS. Alternatively, and perhaps more likely, is the co-occurrence of 2 rare neurodegenerative conditions. Neuropathological studies of cases involving complex phenotypes in rare genetic conditions are required to better understand the likely pathologies in cases such as these.
Keyphrases
  • case report
  • parkinson disease
  • deep brain stimulation
  • early onset
  • genome wide
  • copy number
  • brain injury
  • case control
  • blood brain barrier