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Neurological evaluation of Gaucher disease patients diagnosed as type 1
  1. Jose L Capablo (jcapablol{at}
  1. Miguel Servet University Hospital, Spain
    1. Alicia Saenz de Cabezón
    1. Miguel Servet University Hospital, Spain
      1. Jesús Fraile
      1. Miguel Servet University Hospital, Spain
        1. Pilar Alfonso
        1. University of Zaragoza, Spain
          1. Miguel Pocovi
          1. University of Zaragoza, Spain
            1. Pilar Giraldo (pgiraldo{at}
            1. Miguel Servet University Hospital, Spain


              Type 1 Gaucher disease (GD1) is characterized by the lack of central nervous system involvement, however, there are several reports of associated neurological manifestations. The aim of this study was to systematically evaluate neurological manifestations in thirty-one GD1 patients (12 males/19 females), mean age 39.4 (range 5-77) years. Participants underwent a complete neurological examination and cognitive tests. Investigation about symptoms and medication intake and motor and sensory electroneurograms were obtained. 30.7% of adult patients had neurological deficits including psychomotor delay, parkinsonism, dementia, impaired saccadic ocular movements, and peripheral nerve dysfunction. Three of them were redefined as type 3 GD. Electrodiagnosis was performed on 15 patients, 26.7% of them had reduced amplitude and/or abnormal wave forms in at least three nerves, 33.3% had a mild reduction in amplitude of two nerves, and 40% had amplitude reduction in one nerve. Patients with three or more affected nerves had additional neurological symptoms. Our results demonstrate that neurological alterations occur in patients diagnosed with GD1, and subclinical peripheral neuropathy is a frequent finding.

              • Type 1 Gaucher disease
              • nerve conduction
              • neurological symptoms
              • ocular movements
              • parkinsonism

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