The cognitive profile of type 1 Gaucher disease patients

Marieke Biegstraaten, Keith A. Wesnes, Cécile Luzy, Milan Petakov, Mirando Mrsic, Claus Niederau, Pilar Giraldo, Derralynn Hughes, Atul Mehta, Karl Eugen Mengel, Carla E.M. Hollak, László Maródi, Ivo N. Van Schaik

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Abstract

Background: The absence of neurological symptoms and signs is traditionally considered mandatory for a diagnosis of type 1 Gaucher disease (GD1), but in recent years many reports have emerged on neurological manifestations in GD1 patients. Nevertheless, it has been unclear whether cognitive deficits are part of the disease as well. Methods: Cognitive function was assessed in a large cohort of GD1 patients with the use of the CDR system, a set of computerised cognitive tests. Testing was performed at baseline and every 6 months thereafter during a two-year study period. Results: Our patient cohort (84 patients, median age 40 years, median time from diagnosis 15 years) showed mild deficits relative to healthy age-matched subjects on the composite scores: power of attention (Z-score (mean ± SD) -0.9 ± 1.37) and speed of memory (Z-score (mean ± SD) -1.39 ± 1.49). No decline in cognitive function was seen during the two-year period. Age correlated with the composite scores variability of attention and quality of working memory. Moreover, severely affected patients (Zimran severity score (SSI) ≥ 15) scored more poorly compared to mildly affected patients (SSI ≤ 5) on the composite measure power of attention, reflecting the ability to concentrate. Conclusions: GD1 patients exhibit mild deficits in power of attention and speed of memory, reflecting a decreased ability to focus attention and process information, together with a slowing in the speed of retrieval of items from memory. The clinical relevance of these findings is uncertain.

Original languageEnglish
Pages (from-to)1093-1099
Number of pages7
JournalJournal of inherited metabolic disease
Volume35
Issue number6
DOIs
Publication statusPublished - Nov 1 2012

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Biegstraaten, M., Wesnes, K. A., Luzy, C., Petakov, M., Mrsic, M., Niederau, C., Giraldo, P., Hughes, D., Mehta, A., Mengel, K. E., Hollak, C. E. M., Maródi, L., & Van Schaik, I. N. (2012). The cognitive profile of type 1 Gaucher disease patients. Journal of inherited metabolic disease, 35(6), 1093-1099. https://doi.org/10.1007/s10545-012-9460-7