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Study to Determine Mutations in the Gaucher Gene in Patients With Idiopathic Parkinson's Disease for Phenotype-genotype Correlation (PadGau)

This study has been completed.
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock Identifier:
First received: January 7, 2011
Last updated: January 6, 2014
Last verified: January 2014
The genotype-phenotype correlation in patients with Parkinson's disease with specific mutations in the glucocerebrosidase gene (Gaucher gene) is known from own clinical experiences as well as from case reports in the literature. The epidemiological study will determine the frequency of heterozygous mutations in the glucocerebrosidase gene and correlate to the clinical onset and development by measuring and documenting severity of symptoms (e.g. cognitive deficits, L-dopa responsiveness, depression) in clinically well-characterized Parkinson's patients.

Parkinson Disease
Idiopathic Parkinson Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Epidemiological Study to Determine Mutations in the Gaucher Gene in Patients With Idiopathic Parkinson's Disease for Phenotype-genotype Correlation

Resource links provided by NLM:

Further study details as provided by University of Rostock:

Enrollment: 1500
Study Start Date: January 2011
Study Completion Date: December 2013
Primary Completion Date: December 2013 (Final data collection date for primary outcome measure)
all adult Patients at 18 years with a confirmed diagnosis of Parkinson's disease

Detailed Description:

Parkinson's disease (also known as Parkinson's, Parkinson disease, or PD) is a degenerative disorder of the central nervous system that impairs motor skills, cognitive processes, and other functions. The most obvious symptoms are motor-related, including tremor, rigidity, slowness of movement, and postural instability. Among non-motor symptoms are autonomic dysfunction and sensory and sleep difficulties. Cognitive and neurobehavioral problems, including dementia, are common in the advanced stages of the disease. PD usually appears around the age of 60, although there are young-onset cases.

Gaucher's disease is a genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs. Gaucher's disease is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase). The enzyme acts on a fatty substance glucocerebroside (also known as glucosylceramide). When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells (mononuclear leukocytes). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain and bone marrow.

Symptoms of Parkinson's syndrome in classical type 1 Gaucher patients were first systematically described in 1996. In GD patients, a marked heterogeneity is detected in terms of disease-causing mutations. In 17 Gaucher patients with symptoms of Parkinson's disease, 12 different genotypes were sequenced and compared to other Parkinson's patients, a lower L-dopa responsiveness, a higher frequency of cortical dysfunction and a relatively early onset of the symptoms was described. Many of these Gaucher patients with clinical Parkinson's symptoms had a positive family history of Parkinson's disease among relatives with heterozygous mutations in the Gaucher gene that could be confirmed in systematic studies.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
adult patients with a confirmed diagnosis of Parkinson's disease

Inclusion Criteria:

  • Male or female patients at 18 years old
  • Patients with confirmed diagnosis of Parkinson's disease
  • Signed informed consent

Exclusion Criteria:

  • Male or female patients being younger than 18 years old
  • Patients without confirmed diagnosis of Parkinson's disease
  • Missing signed informed consent
  Contacts and Locations
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Please refer to this study by its identifier: NCT01272687

Fachkrankenhaus für neurologische Akut- und Rehabilitationsmedizin
Bad Neustadt, Germany, 97616
Universitätsklinikum Dresden Klinik für Neurologie
Dresden, Germany, 01307
University of Giessen, Department of Neurology
Giessen, Germany, 35385
Ernst-Moritz-Arndt-University of Greifswald, Department of Neurology
Greifswald, Germany, 17489
Universitätskrankenhaus Hamburg-Eppendorf, Department of Neurology
Hamburg, Germany, 20246
Medizinische Hochschule Hannover, Bewegungsstörungsambulanz
Hannover, Germany, 30625
Alexianer Krefeld GmbH, Krankenhaus Maria Hilf
Krefeld, Germany, 47805
Gertrudis-Kliniken im Parkinson-Zentrum
Leun-Biskirchen, Germany, 35638
Neurologischische Arztpraxis
Rostock, Germany, 18057
Universitätsklinikum Rostock, Klinik für Neurologie
Rostock, Germany, 18147
Klinikverbund Südwest, Klinikum Sindelfingen-Böblingen
Sindelfingen, Germany, 71085
HANSE-Klinikum, Department of Neurology
Stralsund, Germany, 18410
University of Ulm, Department of Neurology
Ulm, Germany, 89081
Stiftung Deutsche Klinik für Diagnostik GmbH Fachbereich Neurologie
Wiesbaden, Germany, 65191
Chulalongkorn University Hospital
Bangkok, Thailand, 10330
Sponsors and Collaborators
University of Rostock
Principal Investigator: Arndt Rolfs, MD University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration
  More Information

Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281.

Responsible Party: Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock Identifier: NCT01272687     History of Changes
Other Study ID Numbers: PD02/2011
Study First Received: January 7, 2011
Last Updated: January 6, 2014

Keywords provided by University of Rostock:
Parkinson Disease
Parkinsonian Disorders
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurodegenerative Diseases

Additional relevant MeSH terms:
Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases processed this record on April 27, 2017