Literature DB >> 23748874

Knowledge of and interest in genetic results among Parkinson disease patients and caregivers.

Karina Sakanaka1, Cheryl H Waters, Oren A Levy, Elan D Louis, Wendy K Chung, Karen S Marder, Roy N Alcalay.   

Abstract

The purpose of the study is to investigate Parkinson disease (PD) patients' and caregivers' knowledge of and interest in genetic testing. Gaucher disease (GD) results from recessive mutations in glucocerebrosidase (GBA). Both heterozygote GBA carriers and GD patients are at greater risk for PD. Studies regarding knowledge of and interest in genetic testing have been limited and have not offered genetic results to participants. In this study, 353 PD patients and 180 caregivers were recruited to a PD genetic study. The association between GD, GBA mutations and PD was described to participants who reported their familiarity with genetic terms, answered questions on genetic concepts, and indicated their interest in knowing if they may have GD (two GBA mutations) and other genetic information that could impact their health. Ninety-three-percent of participants were interested in receiving GBA results; however, only 51.6 % of PD participants and 55.6 % of caregivers knew that "scientists have identified genes associated with a higher risk of developing PD." PD patients may benefit from education and genetic counseling on the implications of genetic testing.

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Year:  2013        PMID: 23748874      PMCID: PMC3808456          DOI: 10.1007/s10897-013-9618-y

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  27 in total

Review 1.  Genetic testing in Parkinson's disease.

Authors:  Aideen McInerney-Leo; Donald W Hadley; Katrina Gwinn-Hardy; John Hardy
Journal:  Mov Disord       Date:  2005-01       Impact factor: 10.338

2.  Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium.

Authors:  P S Harper; C Lim; D Craufurd
Journal:  J Med Genet       Date:  2000-08       Impact factor: 6.318

3.  Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

Authors:  Judith Aharon-Peretz; Hanna Rosenbaum; Ruth Gershoni-Baruch
Journal:  N Engl J Med       Date:  2004-11-04       Impact factor: 91.245

4.  Attitudes, knowledge, and risk perceptions of women with breast and/or ovarian cancer considering testing for BRCA1 and BRCA2.

Authors:  L G Bluman; B K Rimer; D A Berry; N Borstelmann; J D Iglehart; K Regan; J Schildkraut; E P Winer
Journal:  J Clin Oncol       Date:  1999-03       Impact factor: 44.544

5.  Attitudes, knowledge, risk perceptions and decision-making among women with breast and/or ovarian cancer considering testing for BRCA1 and BRCA2 and their spouses.

Authors:  Leslie G Bluman; Barbara K Rimer; Katherine Regan Sterba; Julia Lancaster; Shelly Clark; Nancy Borstelmann; J Dirk Iglehart; Eric P Winer
Journal:  Psychooncology       Date:  2003 Jul-Aug       Impact factor: 3.894

6.  "Grasping the grey": patient understanding and interpretation of an intermediate allele predictive test result for Huntington disease.

Authors:  A Semaka; L G Balneaves; M R Hayden
Journal:  J Genet Couns       Date:  2012-08-18       Impact factor: 2.537

7.  Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000.

Authors:  S Creighton; E W Almqvist; D MacGregor; B Fernandez; H Hogg; J Beis; J P Welch; C Riddell; R Lokkesmoe; M Khalifa; J MacKenzie; A Sajoo; S Farrell; F Robert; A Shugar; A Summers; W Meschino; D Allingham-Hawkins; T Chiu; A Hunter; J Allanson; H Hare; J Schween; L Collins; S Sanders; C Greenberg; S Cardwell; E Lemire; P MacLeod; M R Hayden
Journal:  Clin Genet       Date:  2003-06       Impact factor: 4.438

8.  Public experiences, knowledge and expectations about medical genetics and the use of genetic information.

Authors:  Lidewij Henneman; Danielle R M Timmermans; Gerrit van der Wal
Journal:  Community Genet       Date:  2004

9.  Reluctance to undergo predictive testing: the case of Huntington disease.

Authors:  K A Quaid; M Morris
Journal:  Am J Med Genet       Date:  1993-01-01

10.  Are men at greater risk for Parkinson's disease than women?

Authors:  G F Wooten; L J Currie; V E Bovbjerg; J K Lee; J Patrie
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-04       Impact factor: 10.154

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  15 in total

Review 1.  GBA-Associated Parkinson's Disease and Other Synucleinopathies.

Authors:  Ziv Gan-Or; Christopher Liong; Roy N Alcalay
Journal:  Curr Neurol Neurosci Rep       Date:  2018-06-08       Impact factor: 5.081

Review 2.  Integrating Patient Concerns into Parkinson's Disease Management.

Authors:  Shen-Yang Lim; Ai Huey Tan; Susan H Fox; Andrew H Evans; Soon Chai Low
Journal:  Curr Neurol Neurosci Rep       Date:  2017-01       Impact factor: 5.081

3.  Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings.

Authors:  Lola Cook; Jeanine Schulze
Journal:  J Genet Couns       Date:  2017-06-30       Impact factor: 2.537

4.  Interest in genetic testing in Ashkenazi Jewish Parkinson's disease patients and their unaffected relatives.

Authors:  Manisha Gupte; Roy N Alcalay; Helen Mejia-Santana; Deborah Raymond; Rachel Saunders-Pullman; Ernest Roos; Martha Orbe-Reily; Ming-X Tang; Anat Mirelman; Laurie Ozelius; Avi Orr-Urtreger; Lorraine Clark; Nir Giladi; Susan Bressman; Karen Marder
Journal:  J Genet Couns       Date:  2014-08-17       Impact factor: 2.537

5.  Parkinson's Disease: Patients' Knowledge, Attitudes, and Interest in Genetic Counseling.

Authors:  Kristin A Maloney; Dina S Alaeddin; Rainer von Coelln; Shannan Dixon; Lisa M Shulman; Katrina Schrader; Yue Guan
Journal:  J Genet Couns       Date:  2018-03-02       Impact factor: 2.537

6.  Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.

Authors:  Roy N Alcalay; Oren A Levy; Cheryl C Waters; Stanley Fahn; Blair Ford; Sheng-Han Kuo; Pietro Mazzoni; Michael W Pauciulo; William C Nichols; Ziv Gan-Or; Guy A Rouleau; Wendy K Chung; Pavlina Wolf; Petra Oliva; Joan Keutzer; Karen Marder; Xiaokui Zhang
Journal:  Brain       Date:  2015-06-27       Impact factor: 13.501

7.  SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.

Authors:  Roy N Alcalay; Victoria Mallett; Benoît Vanderperre; Omid Tavassoly; Yves Dauvilliers; Richard Y J Wu; Jennifer A Ruskey; Claire S Leblond; Amirthagowri Ambalavanan; Sandra B Laurent; Dan Spiegelman; Alexandre Dionne-Laporte; Christopher Liong; Oren A Levy; Stanley Fahn; Cheryl Waters; Sheng-Han Kuo; Wendy K Chung; Blair Ford; Karen S Marder; Un Jung Kang; Sharon Hassin-Baer; Lior Greenbaum; Jean-Francois Trempe; Pavlina Wolf; Petra Oliva; Xiaokui Kate Zhang; Lorraine N Clark; Melanie Langlois; Patrick A Dion; Edward A Fon; Nicolas Dupre; Guy A Rouleau; Ziv Gan-Or
Journal:  Mov Disord       Date:  2019-02-20       Impact factor: 10.338

8.  Cognitive and motor function in long-duration PARKIN-associated Parkinson disease.

Authors:  Roy N Alcalay; Elise Caccappolo; Helen Mejia-Santana; Ming Xin Tang; Llency Rosado; Martha Orbe Reilly; Diana Ruiz; Elan D Louis; Cynthia L Comella; Martha A Nance; Susan B Bressman; William K Scott; Caroline M Tanner; Susan F Mickel; Cheryl H Waters; Stanley Fahn; Lucien J Cote; Steven J Frucht; Blair Ford; Michael Rezak; Kevin E Novak; Joseph H Friedman; Ronald F Pfeiffer; Laura Marsh; Bradley Hiner; Haydeh Payami; Eric Molho; Stewart A Factor; John G Nutt; Carmen Serrano; Maritza Arroyo; Ruth Ottman; Michael W Pauciulo; William C Nichols; Lorraine N Clark; Karen S Marder
Journal:  JAMA Neurol       Date:  2014-01       Impact factor: 18.302

9.  Alpha galactosidase A activity in Parkinson's disease.

Authors:  R N Alcalay; P Wolf; O A Levy; U J Kang; C Waters; S Fahn; B Ford; S H Kuo; N Vanegas; H Shah; C Liong; S Narayan; M W Pauciulo; W C Nichols; Z Gan-Or; G A Rouleau; W K Chung; P Oliva; J Keutzer; K Marder; X K Zhang
Journal:  Neurobiol Dis       Date:  2018-02-02       Impact factor: 5.996

10.  Lipidomics Prediction of Parkinson's Disease Severity: A Machine-Learning Analysis.

Authors:  Hila Avisar; Cristina Guardia-Laguarta; Estela Area-Gomez; Matthew Surface; Amanda K Chan; Roy N Alcalay; Boaz Lerner
Journal:  J Parkinsons Dis       Date:  2021       Impact factor: 5.568

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