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Neurological evaluation of patients with Gaucher disease diagnosed as type 1
  1. J L Capablo1,
  2. A Saenz de Cabezón2,
  3. J Fraile3,
  4. P Alfonso4,
  5. M Pocovi4,
  6. P Giraldo5,
  7. on behalf of the Spanish Group on Gaucher Disease
  1. 1
    Neurology Department, Miguel Servet University Hospital, Zaragoza, Spain
  2. 2
    Neurophysiology Department, Miguel Servet University Hospital, Zaragoza, Spain
  3. 3
    ORL Department, Miguel Servet University Hospital, Zaragoza, Spain
  4. 4
    Biochemistry and Cellular and Molecular Biology, Sciences Department, Zaragoza University, Spain
  5. 5
    Haematology Department, Miguel Servet University Hospital, Zaragoza, Spain
  1. Dr P Giraldo, Servicio de Hematología, Hospital Universitario Miguel Servet, Paseo Isabel La Católica 1-3, 50006 Zaragoza, Spain; pgiraldo{at}salud.aragon.es

Abstract

Type 1 Gaucher disease (GD1) is characterised by 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 31 patients with GD1 (12 males and 19 females; mean age 39.4 (range 5–77) years). Participants underwent a complete neurological examination and cognitive tests. Investigation of 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 patients were redefined as type 3 GD. Electrodiagnosis was performed on 15 patients; 26.7% had reduced amplitude and/or abnormal waveforms 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.

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Footnotes

  • Funding: This research was supported by funds from Fundación Española para el Estudio y Terapeútica de la Enfermedad de Gaucher (FEETEG) and grants from REDEMETH G03/054, FIS 03/0529, 04/2476 and 06/1253. The list of the Spanish Group on Gaucher Disease can be viewed at www.feeteg.org.

  • Competing interests: None.

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