U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Parkinson disease 26, autosomal dominant, susceptibility to

MedGen UID:
1053987
•Concept ID:
CN378153
•
Disease or Syndrome
Gene (location): RAB32 (6q24.3)
 
Monarch Initiative: MONDO:0975748
OMIM®: 620923

Recent clinical studies

Etiology

Genetics of Parkinson's disease.
Lill CM
Mol Cell Probes 2016 Dec;30(6):386-396. Epub 2016 Nov 4 doi: 10.1016/j.mcp.2016.11.001. PMID: 27818248
Association of SNCA with Parkinson: replication in the Harvard NeuroDiscovery Center Biomarker Study.
Ding H, Sarokhan AK, Roderick SS, Bakshi R, Maher NE, Ashourian P, Kan CG, Chang S, Santarlasci A, Swords KE, Ravina BM, Hayes MT, Sohur US, Wills AM, Flaherty AW, Unni VK, Hung AY, Selkoe DJ, Schwarzschild MA, Schlossmacher MG, Sudarsky LR, Growdon JH, Ivinson AJ, Hyman BT, Scherzer CR
Mov Disord 2011 Oct;26(12):2283-6. Epub 2011 Sep 23 doi: 10.1002/mds.23934. PMID: 21953863Free PMC Article
Milestones in PD genetics.
Gasser T, Hardy J, Mizuno Y
Mov Disord 2011 May;26(6):1042-8. doi: 10.1002/mds.23637. PMID: 21626549
Clinical expression of LRRK2 G2019S mutations in the elderly.
San Luciano M, Lipton RB, Wang C, Katz M, Zimmerman ME, Sanders AE, Ozelius LJ, Bressman SB, Saunders-Pullman R
Mov Disord 2010 Nov 15;25(15):2571-6. doi: 10.1002/mds.23330. PMID: 20721910Free PMC Article
GCH1 in early-onset Parkinson's disease.
Cobb SA, Wider C, Ross OA, Mata IF, Adler CH, Rajput A, Rajput AH, Wu RM, Hauser R, Josephs KA, Carr J, Gwinn K, Heckman MG, Aasly JO, Lynch T, Uitti RJ, Wszolek ZK, Kapatos G, Farrer MJ
Mov Disord 2009 Oct 30;24(14):2070-5. doi: 10.1002/mds.22729. PMID: 19735094

Diagnosis

A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing.
Lin CH, Chen PL, Tai CH, Lin HI, Chen CS, Chen ML, Wu RM
Mov Disord 2019 Apr;34(4):506-515. Epub 2019 Feb 20 doi: 10.1002/mds.27633. PMID: 30788857Free PMC Article

Prognosis

Genetics of Parkinson's disease.
Lill CM
Mol Cell Probes 2016 Dec;30(6):386-396. Epub 2016 Nov 4 doi: 10.1016/j.mcp.2016.11.001. PMID: 27818248
R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.
Korvatska O, Leverenz JB, Jayadev S, McMillan P, Kurtz I, Guo X, Rumbaugh M, Matsushita M, Girirajan S, Dorschner MO, Kiianitsa K, Yu CE, Brkanac Z, Garden GA, Raskind WH, Bird TD
JAMA Neurol 2015 Aug;72(8):920-7. doi: 10.1001/jamaneurol.2015.0979. PMID: 26076170Free PMC Article
Identification of novel variants in LRRK2 gene in patients with Parkinson's disease in Serbian population.
Janković MZ, Kresojević ND, Dobričić VS, Marković VV, Petrović IN, Novaković IV, Kostić VS
J Neurol Sci 2015;353(1-2):59-62. Epub 2015 Apr 12 doi: 10.1016/j.jns.2015.04.002. PMID: 25899316
Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification.
Yamamura Y, Hattori N, Matsumine H, Kuzuhara S, Mizuno Y
Brain Dev 2000 Sep;22 Suppl 1:S87-91. doi: 10.1016/s0387-7604(00)00130-3. PMID: 10984666

Clinical prediction guides

Genetics of Parkinson's disease.
Lill CM
Mol Cell Probes 2016 Dec;30(6):386-396. Epub 2016 Nov 4 doi: 10.1016/j.mcp.2016.11.001. PMID: 27818248
R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.
Korvatska O, Leverenz JB, Jayadev S, McMillan P, Kurtz I, Guo X, Rumbaugh M, Matsushita M, Girirajan S, Dorschner MO, Kiianitsa K, Yu CE, Brkanac Z, Garden GA, Raskind WH, Bird TD
JAMA Neurol 2015 Aug;72(8):920-7. doi: 10.1001/jamaneurol.2015.0979. PMID: 26076170Free PMC Article
Identification of novel variants in LRRK2 gene in patients with Parkinson's disease in Serbian population.
Janković MZ, Kresojević ND, Dobričić VS, Marković VV, Petrović IN, Novaković IV, Kostić VS
J Neurol Sci 2015;353(1-2):59-62. Epub 2015 Apr 12 doi: 10.1016/j.jns.2015.04.002. PMID: 25899316
Clinical expression of LRRK2 G2019S mutations in the elderly.
San Luciano M, Lipton RB, Wang C, Katz M, Zimmerman ME, Sanders AE, Ozelius LJ, Bressman SB, Saunders-Pullman R
Mov Disord 2010 Nov 15;25(15):2571-6. doi: 10.1002/mds.23330. PMID: 20721910Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...