title: Autonomic dysfunction in parkinsonian LRRK2 mutation carriers.
abstract: BACKGROUND
  The aim of this study was to compare autonomic function in PD symptomatic carriers of the LRRK2 mutations and idiopathic Parkinson's disease (iPD) patients.
  
  
  METHODS
  We studied 25 PD patients: 12 with the LRRK2 mutation (6 G2019S and 6 R1441G), and 13 with iPD. All patients underwent blood pressure and heart rate monitoring during head up tilt, Valsalva maneuver and deep breathing, along with recording of sympathetic skin response (SSR) and cardiac MIBG scintigraphy.
  
  
  RESULTS
  Three of the patients with iPD and one of the LRRK2 carriers had orthostatic hypotension. Arterial pressure "overshoot" during phase IV of Valsalva maneuver was less pronounced in patients with iPD. During passive tilt, LRRK2 carries had higher increase of blood pressure than iPD patients MIBG late myocardial/mediastinal uptake ratios were higher in LRRK2 mutation carriers (1.51 ± 0.28 vs 1.32 ± 0.25; p < 0.05).
  
  
  CONCLUSIONS
  Carriers of the LRRK2 mutation had less autonomic impairment than those with iPD as shown by higher cardiac MIBG uptake and a tendency to less impairment of autonomic non-invasive tests. It is important to carry out larger studies comparing the clinical, functional and pathological characteristics of these patients.
authors.affiliation: Movement Disorders and Autonomic Unit, Neurology Service, Cruces University Hospital, Basque Health Service (Osakidetza), Department of Neurosciences, University of the Basque Country, Spain. beatriz_tijero@hotmail.com
authors.forename: Beatriz
authors.initials: B
authors.lastname: Tijero
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Gómez Esteban
authors.forename: Johanne
authors.initials: J
authors.lastname: Somme
authors.forename: Verónica
authors.initials: V
authors.lastname: Llorens
authors.forename: Elena
authors.initials: E
authors.lastname: Lezcano
authors.forename: Ana
authors.initials: A
authors.lastname: Martinez
authors.forename: Trinidad
authors.initials: T
authors.lastname: Rodríguez
authors.forename: Koldo
authors.initials: K
authors.lastname: Berganzo
authors.forename: Juan José
authors.initials: JJ
authors.lastname: Zarranz
mesh_terms: D019797:3-Iodobenzylguanidine; D000368:Aged; D001342:Autonomic Nervous System Diseases / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics*; D001794:Blood Pressure / Q000502:physiology; D005260:Female; D006321:Heart / Q000000981:diagnostic imaging; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics* / Q000502:physiology*; D009638:Norepinephrine / Q000097:blood; D010300:Parkinson Disease / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D049268:Positron-Emission Tomography; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D019275:Radiopharmaceuticals; D012867:Skin / Q000294:innervation; D011795:Surveys and Questionnaires; D013562:Sympathectomy; D014636:Valsalva Maneuver
chemical_list: D019275:Radiopharmaceuticals; D019797:3-Iodobenzylguanidine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D009638:Norepinephrine
keywords: Autonomic disorders; LRRK2 gene; Parkinson's disease