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G2019S LRRK2 mutation causing Parkinson’s disease without Lewy bodies
  1. Carles Gaig (cgaigv{at}hotmail.com)
  1. Hospital Clínic Barcelona. Neurology Service. Movement Disorders Unit, Spain
    1. Maria José Martí (mjmarti{at}clinic.ub.es)
    1. Hospital Clínic Barcelona. Neurology Service. Movement Disorders Unit, Spain
      1. Mario Ezquerra
      1. Hospital Clínic Barcelona. Neurology Service. Movement Disorders Unit, Spain
        1. Maria Jesús Rey
        1. Brain Bank of the University of Barcelona., Spain
          1. Adriana Cardozo
          1. Brain Bank of the University of Barcelona., Spain
            1. Eduardo Tolosa
            1. Hospital Clínic Barcelona. Neurology Service. Movement Disorders Unit, Spain

              Abstract

              The G2019S LRRK2 mutation has been identified in a significant proportion of familial and sporadic Parkinson’s disease (PD) patients. Until now information about the neuropathological changes associated with the G2019S LRRK2 mutation has been sparse. We report a 77 years-old patient who presented fourteen years-history of PD, but unexpectedly, histopathological examination disclosed mild neuronal loss in the subtantia nigra without α-synuclein, tau or ubiquitin cytoplasmic inclusions. A G2019S LRRK2 mutation was eventually detected. The present case confirms that clinical PD caused by G2019S mutations can be associated with nonspecific nigral degeneration without Lewy bodies.

              • G2019S LRRK2 mutation
              • Parkinson’s disease
              • lewy bodies
              • non-specific nigrostrital degeneration

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