This is the final version of the article. Available from the publisher via the DOI in this record.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.This work was supported by Actelion Pharmaceuticals
Ltd, Allschwil, Switzerland. This study was set up under the auspices of the European Working Group on Gaucher Disease (EWGGD).
MB received financial support from Actelion
to conduct her activities related to this study. MB, CEMH, INvS and
AM have received consultancy fees from Actelion for participation in
clinical trial programs and other projects, and CEMH, INvS and AM
have received speaker fees for participation in scientific congresses and
sponsored events. MB and CEMH donate all fees to the Gaucher
Stichting, a national foundation that supports research in the field of
lysosomal storage disorders. Consulting fees for INvS are donated to
the Stichting Klinische Neurologie, a local foundation that supports
research in the field of neurological disorders. DH has received consultancy
fees from Actelion for participation in clinical trials, grants for
local laboratory projects, and speaker fees for participation in scientific
congresses and sponsored events. KEM, PG and LM have received
speaker fees from Actelion for participation in sponsored events. PG
received consultancy fees for participation in local clinical projects.
LM received a travel grant from Actelion and was financially supported
by TÁMOP 4.2.1./B-09/1/KONV-2010-0007 and TÁMOP
4.2.2-08/1-2008-0015. CN got speaker fees for participation in scientific
meetings. KAW was sole shareholder of Cognitive Drug Research
Ltd. Cognitive Drug Research Ltd supplied the CDR System for the
study and received financial support from Actelion. KAW is currently
an employee of United BioSource Corporation (UBC) that owns the
CDR System since August 2009. CL is an employee of Actelion
Pharmaceuticals Ltd. MP and MM report no conflicts of interest
