title: [Neurological manifestations in patients with Gaucher disease and in their relatives].
abstract: OBJECTIVE
  Gaucher disease (GD) is characterized by a wide spectrum of manifestations. Previous reports indicate that GD relatives could develop neurological abnormalities more frequently than the general population. We aimed to know the presence of neurological symptoms (NS) in GD patients and their relatives.
  
  
  METHODS
  From January to December 2006 we performed a postal survey contacting 42 physicians and 92 families to evaluate NS and correlate them with genetic characteristics. Statistical analysis using descriptive parameters, ANOVA, t-test and a correlation study including Pearson coefficient were performed.
  
  
  RESULTS
  Information from 72 families (78.3% responses) including 99 patients and 266 relatives was obtained. Thirty type 1 GD (32.6%) reported NS: tremor 8 (8.7%), uncoordinated movements 9 (9.8%), concentration defects 11 (11.9%), strabism 7 (7.6%), deafness 8 (8.7%), Parkinson disease (PD) 7 (7.6%) and peripheral neuropathy 10 (10.9%). Thirty-six (13.5%) first or second degrees relatives presented the following NS: PD 14 (4.9%), epilepsy 8 (3.0%), tremor 7 (2.6%), deafness 2 (0.7%) and others 5 (1.9%). 17.3% of carriers had NS versus 5.7% in non-carriers (p = 0.0096). Patients with PD had mutations in S364R, D409H, L444P, [IVS4-2a ==> g; c.(-203)A ==> G], c.500insT and L336P. In relatives with PD a wide spectrum of mutations was observed: L444P, N370S, V398I, G202R, c.1439-1445del7, [E326K; N188S] and c.953delT. In other NS, predominant mutations were D409H, G195W, R120W, R147X, L336P and G377S.
  
  
  CONCLUSIONS
  A higher incidence than expected of PD and other NS in GD type 1 patients and relatives was observed. These manifestations appear frequently in L444P or rare mutations carriers. It is important to perform a systematic neurological exam in type 1 GD patients and carriers with risk mutations.
authors.affiliation: Servicio de Hematología, Hospital Universitario Miguel Servet, Zaragoza, España. giraldo.p@gmail.com
authors.forename: Pilar
authors.initials: P
authors.lastname: Giraldo
authors.forename: José Luis
authors.initials: JL
authors.lastname: Capablo
authors.forename: Pilar
authors.initials: P
authors.lastname: Alfonso
authors.forename: Paz
authors.initials: P
authors.lastname: Latre
authors.forename: Beatriz
authors.initials: B
authors.lastname: García
authors.forename: Miguel
authors.initials: M
authors.lastname: Pocoví
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009422:Nervous System Diseases / Q000209:etiology* / Q000235:genetics; D010300:Parkinson Disease / Q000209:etiology / Q000235:genetics; D010375:Pedigree; D011446:Prospective Studies; D055815:Young Adult