U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autosomal Recessive Parkinsonism

MedGen UID:
148452
Concept ID:
C0752100
Disease or Syndrome
Synonyms: Parkinsonism, Autosomal Recessive; Recessive Parkinsonism, Autosomal

Professional guidelines

PubMed

Armstrong MJ, Okun MS
JAMA 2020 Feb 11;323(6):548-560. doi: 10.1001/jama.2019.22360. PMID: 32044947
Atri A
Med Clin North Am 2019 Mar;103(2):263-293. doi: 10.1016/j.mcna.2018.10.009. PMID: 30704681
Postuma RB, Berg D, Stern M, Poewe W, Olanow CW, Oertel W, Obeso J, Marek K, Litvan I, Lang AE, Halliday G, Goetz CG, Gasser T, Dubois B, Chan P, Bloem BR, Adler CH, Deuschl G
Mov Disord 2015 Oct;30(12):1591-601. doi: 10.1002/mds.26424. PMID: 26474316

Recent clinical studies

Etiology

Gu X, Li C, Chen Y, Ou R, Cao B, Wei Q, Hou Y, Zhang L, Song W, Zhao B, Wu Y, Shang H
Neurobiol Aging 2020 Oct;94:311.e1-311.e4. Epub 2020 May 13 doi: 10.1016/j.neurobiolaging.2020.05.005. PMID: 32507414
Trinh J, Guella I, Farrer MJ
JAMA Neurol 2014 Dec;71(12):1535-9. doi: 10.1001/jamaneurol.2014.1909. PMID: 25330418
Tomiyama H, Li Y, Yoshino H, Mizuno Y, Kubo S, Toda T, Hattori N
Neurosci Lett 2009 May 22;455(3):159-61. Epub 2009 Mar 16 doi: 10.1016/j.neulet.2009.03.033. PMID: 19429112
Lesage S, Brice A
Hum Mol Genet 2009 Apr 15;18(R1):R48-59. doi: 10.1093/hmg/ddp012. PMID: 19297401
Biskup S, Gerlach M, Kupsch A, Reichmann H, Riederer P, Vieregge P, Wüllner U, Gasser T
J Neurol 2008 Sep;255 Suppl 5:8-17. doi: 10.1007/s00415-008-5005-2. PMID: 18787878

Diagnosis

Darvish H, Azcona LJ, Taghavi S, Firouzabadi SG, Tafakhori A, Alehabib E, Mohajerani F, Zardadi S, Paisán-Ruiz C
Ann Neurol 2021 Aug;90(2):319-323. Epub 2021 Jul 12 doi: 10.1002/ana.26148. PMID: 34180078
Taghavi S, Chaouni R, Tafakhori A, Azcona LJ, Firouzabadi SG, Omrani MD, Jamshidi J, Emamalizadeh B, Shahidi GA, Ahmadi M, Habibi SAH, Ahmadifard A, Fazeli A, Motallebi M, Petramfar P, Askarpour S, Askarpour S, Shahmohammadibeni HA, Shahmohammadibeni N, Eftekhari H, Shafiei Zarneh AE, Mohammadihosseinabad S, Khorrami M, Najmi S, Chitsaz A, Shokraeian P, Ehsanbakhsh H, Rezaeidian J, Ebrahimi Rad R, Madadi F, Andarva M, Alehabib E, Atakhorrami M, Mortazavi SE, Azimzadeh Z, Bayat M, Besharati AM, Harati-Ghavi MA, Omidvari S, Dehghani-Tafti Z, Mohammadi F, Mohammad Hossein Pour B, Noorollahi Moghaddam H, Esmaili Shandiz E, Habibi A, Taherian-Esfahani Z, Darvish H, Paisán-Ruiz C
Mol Neurobiol 2018 Apr;55(4):3477-3489. Epub 2017 May 13 doi: 10.1007/s12035-017-0535-1. PMID: 28502045Free PMC Article
Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC)
Am J Hum Genet 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014. PMID: 26942284Free PMC Article
Jain S, van Kesteren RE, Heutink P
J Vis Exp 2012 Jan 6;(59):e3452. doi: 10.3791/3452. PMID: 22257990Free PMC Article
Bonifati V
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S4-6. doi: 10.1016/S1353-8020(11)70004-9. PMID: 22166450

Therapy

Yealland G, Battaglia G, Bandmann O, Mortiboys H
Neurosci Lett 2016 Sep 6;630:23-29. Epub 2016 Jul 10 doi: 10.1016/j.neulet.2016.06.065. PMID: 27412236Free PMC Article
Bouman L, Schlierf A, Lutz AK, Shan J, Deinlein A, Kast J, Galehdar Z, Palmisano V, Patenge N, Berg D, Gasser T, Augustin R, Trümbach D, Irrcher I, Park DS, Wurst W, Kilberg MS, Tatzelt J, Winklhofer KF
Cell Death Differ 2011 May;18(5):769-82. Epub 2010 Nov 26 doi: 10.1038/cdd.2010.142. PMID: 21113145Free PMC Article
Lohmann E, Thobois S, Lesage S, Broussolle E, du Montcel ST, Ribeiro MJ, Remy P, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group
Neurology 2009 Jan 13;72(2):110-6. Epub 2008 Nov 5 doi: 10.1212/01.wnl.0000327098.86861.d4. PMID: 18987353Free PMC Article
Fiorio M, Valente EM, Gambarin M, Bentivoglio AR, Ialongo T, Albanese A, Barone P, Pellecchia MT, Brancati F, Moretto G, Fiaschi A, Tinazzi M
J Neurol 2008 Sep;255(9):1372-7. Epub 2008 Jul 3 doi: 10.1007/s00415-008-0923-6. PMID: 18584234
Albanese A, Valente EM, Romito LM, Bellacchio E, Elia AE, Dallapiccola B
Neurology 2005 Jun 14;64(11):1958-60. doi: 10.1212/01.WNL.0000163999.72864.FD. PMID: 15955954

Prognosis

Winklhofer KF
Trends Cell Biol 2014 Jun;24(6):332-41. Epub 2014 Jan 30 doi: 10.1016/j.tcb.2014.01.001. PMID: 24485851
Jain S, van Kesteren RE, Heutink P
J Vis Exp 2012 Jan 6;(59):e3452. doi: 10.3791/3452. PMID: 22257990Free PMC Article
Bonifati V
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S4-6. doi: 10.1016/S1353-8020(11)70004-9. PMID: 22166450
Rawal N, Periquet M, Lohmann E, Lücking CB, Teive HA, Ambrosio G, Raskin S, Lincoln S, Hattori N, Guimaraes J, Horstink MW, Dos Santos Bele W, Brousolle E, Destée A, Mizuno Y, Farrer M, Deleuze JF, De Michele G, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease
Neurology 2003 Apr 22;60(8):1378-81. doi: 10.1212/01.wnl.0000056167.89221.be. PMID: 12707451
Muñoz E, Tolosa E, Pastor P, Martí MJ, Valldeoriola F, Campdelacreu J, Oliva R
J Neurol Neurosurg Psychiatry 2002 Nov;73(5):582-4. doi: 10.1136/jnnp.73.5.582. PMID: 12397156Free PMC Article

Clinical prediction guides

Winklhofer KF
Trends Cell Biol 2014 Jun;24(6):332-41. Epub 2014 Jan 30 doi: 10.1016/j.tcb.2014.01.001. PMID: 24485851
Jain S, van Kesteren RE, Heutink P
J Vis Exp 2012 Jan 6;(59):e3452. doi: 10.3791/3452. PMID: 22257990Free PMC Article
Gouider-Khouja N, Larnaout A, Amouri R, Sfar S, Belal S, Ben Hamida C, Ben Hamida M, Hattori N, Mizuno Y, Hentati F
Parkinsonism Relat Disord 2003 Jun;9(5):247-51. doi: 10.1016/s1353-8020(03)00016-6. PMID: 12781588
van Duijn CM, Dekker MC, Bonifati V, Galjaard RJ, Houwing-Duistermaat JJ, Snijders PJ, Testers L, Breedveld GJ, Horstink M, Sandkuijl LA, van Swieten JC, Oostra BA, Heutink P
Am J Hum Genet 2001 Sep;69(3):629-34. Epub 2001 Jul 2 doi: 10.1086/322996. PMID: 11462174Free PMC Article
Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Ialongo T, Frontali M, Albanese A, Wood NW
Am J Hum Genet 2001 Apr;68(4):895-900. Epub 2001 Mar 7 doi: 10.1086/319522. PMID: 11254447Free PMC Article

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...