title: The cognitive profile of type 1 Gaucher disease patients.
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.
authors.affiliation: Department of Internal Medicine, Academic Medical Center, F5-169, Box 22700, 1100 DE, Amsterdam, The Netherlands. m.biegstraaten@amc.uva.nl
authors.forename: Marieke
authors.initials: M
authors.lastname: Biegstraaten
authors.forename: Keith A
authors.initials: KA
authors.lastname: Wesnes
authors.forename: Cécile
authors.initials: C
authors.lastname: Luzy
authors.forename: Milan
authors.initials: M
authors.lastname: Petakov
authors.forename: Mirando
authors.initials: M
authors.lastname: Mrsic
authors.forename: Claus
authors.initials: C
authors.lastname: Niederau
authors.forename: Pilar
authors.initials: P
authors.lastname: Giraldo
authors.forename: Derralynn
authors.initials: D
authors.lastname: Hughes
authors.forename: Atul
authors.initials: A
authors.lastname: Mehta
authors.forename: Karl-Eugen
authors.initials: KE
authors.lastname: Mengel
authors.forename: Carla E M
authors.initials: CE
authors.lastname: Hollak
authors.forename: László
authors.initials: L
authors.lastname: Maródi
authors.forename: Ivo N
authors.initials: IN
authors.lastname: van Schaik
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001288:Attention; D016022:Case-Control Studies; D003071:Cognition; D003072:Cognition Disorders / Q000150:complications / Q000523:psychology; D015331:Cohort Studies; D005060:Europe; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008568:Memory; D008570:Memory, Short-Term; D008875:Middle Aged; D009483:Neuropsychological Tests; D011446:Prospective Studies; D055815:Young Adult