U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Pure or complex autosomal recessive spastic paraplegia

MedGen UID:
1842728
Concept ID:
C5679887
Disease or Syndrome
Synonym: Pure or complicated autosomal recessive spastic paraplegia
 
Orphanet: ORPHA320346

Professional guidelines

PubMed

Rinella ME, Lazarus JV, Ratziu V, Francque SM, Sanyal AJ, Kanwal F, Romero D, Abdelmalek MF, Anstee QM, Arab JP, Arrese M, Bataller R, Beuers U, Boursier J, Bugianesi E, Byrne CD, Castro Narro GE, Chowdhury A, Cortez-Pinto H, Cryer DR, Cusi K, El-Kassas M, Klein S, Eskridge W, Fan J, Gawrieh S, Guy CD, Harrison SA, Kim SU, Koot BG, Korenjak M, Kowdley KV, Lacaille F, Loomba R, Mitchell-Thain R, Morgan TR, Powell EE, Roden M, Romero-Gómez M, Silva M, Singh SP, Sookoian SC, Spearman CW, Tiniakos D, Valenti L, Vos MB, Wong VW, Xanthakos S, Yilmaz Y, Younossi Z, Hobbs A, Villota-Rivas M, Newsome PN; NAFLD Nomenclature consensus group
Hepatology 2023 Dec 1;78(6):1966-1986. Epub 2023 Jun 24 doi: 10.1097/HEP.0000000000000520. PMID: 37363821Free PMC Article
Rajan SK, Cottin V, Dhar R, Danoff S, Flaherty KR, Brown KK, Mohan A, Renzoni E, Mohan M, Udwadia Z, Shenoy P, Currow D, Devraj A, Jankharia B, Kulshrestha R, Jones S, Ravaglia C, Quadrelli S, Iyer R, Dhooria S, Kolb M, Wells AU
Eur Respir J 2023 Mar;61(3) Epub 2023 Mar 30 doi: 10.1183/13993003.03187-2021. PMID: 36517177Free PMC Article
Chen Z, Li G, Liu J
Neurobiol Dis 2020 Feb;134:104700. Epub 2019 Dec 3 doi: 10.1016/j.nbd.2019.104700. PMID: 31809788

Recent clinical studies

Etiology

Reijnen C, Vrede SW, Eijkelenboom A, Draak R, Sweegers S, Snijders MPLM, van Gestel P, Pijnenborg JMA, Bulten J, Küsters-Vandevelde HVN
Cancer Med 2023 Jun;12(11):12365-12376. Epub 2023 Apr 20 doi: 10.1002/cam4.5937. PMID: 37081760Free PMC Article
Hamel JI, Logigian EL
Neurology 2023 May 16;100(20):e2134-e2140. Epub 2023 Mar 27 doi: 10.1212/WNL.0000000000207215. PMID: 36973043Free PMC Article
MacColl CE, Paré G, Salehi A, Hodgson N, Williams P
Am J Surg Pathol 2021 Apr 1;45(4):537-542. doi: 10.1097/PAS.0000000000001610. PMID: 33105157
Brinjikji W, Cloft HJ, Flemming KD, Comelli S, Lanzino G
J Neurosurg 2018 Jul;129(1):91-99. Epub 2017 Sep 29 doi: 10.3171/2017.2.JNS1744. PMID: 28960150
Arboix A, Martí-Vilalta JL
Expert Rev Neurother 2009 Feb;9(2):179-96. doi: 10.1586/14737175.9.2.179. PMID: 19210194

Diagnosis

Gurnari C, Maciejewski JP
Blood 2021 Apr 15;137(15):2001-2009. doi: 10.1182/blood.2021010898. PMID: 33657207Free PMC Article
Coon EA, Singer W, Low PA
Mayo Clin Proc 2019 Oct;94(10):2087-2098. Epub 2019 Sep 9 doi: 10.1016/j.mayocp.2019.03.009. PMID: 31515103Free PMC Article
Kabir MA, Chelimsky TC
Handb Clin Neurol 2019;161:413-422. doi: 10.1016/B978-0-444-64142-7.00064-3. PMID: 31307617
Brown TP
Pract Neurol 2017 Oct;17(5):341-348. Epub 2017 Jul 17 doi: 10.1136/practneurol-2016-001559. PMID: 28717053
Thaisetthawatkul P
Curr Neurol Neurosci Rep 2016 Aug;16(8):74. doi: 10.1007/s11910-016-0673-2. PMID: 27338613

Therapy

Joshua TG, Ayub A, Wijesinghe P, Nunez DA
JAMA Otolaryngol Head Neck Surg 2022 Jan 1;148(1):5-11. doi: 10.1001/jamaoto.2021.2685. PMID: 34709348Free PMC Article
Liao Y, Xie B, Zhang H, He Q, Guo L, Subramanieapillai M, Fan B, Lu C, McIntyre RS
Transl Psychiatry 2019 Aug 5;9(1):190. doi: 10.1038/s41398-019-0515-5. PMID: 31383846Free PMC Article
Yeh SW, Hong CH, Shih MC, Tam KW, Huang YH, Kuan YC
Pain Physician 2019 May;22(3):241-254. PMID: 31151332
Roerecke M, Kaczorowski J, Tobe SW, Gmel G, Hasan OSM, Rehm J
Lancet Public Health 2017 Feb;2(2):e108-e120. Epub 2017 Feb 7 doi: 10.1016/S2468-2667(17)30003-8. PMID: 29253389Free PMC Article
Maasumi K, Tepper SJ, Kriegler JS
Headache 2017 Feb;57(2):194-208. Epub 2016 Dec 2 doi: 10.1111/head.12978. PMID: 27910087

Prognosis

Handa Y, Tsutani Y, Ito M, Miyata Y, Mukaida H, Kaneko M, Takeshima Y, Okada M
Clin Lung Cancer 2022 Jan;23(1):e9-e16.e1. Epub 2021 Jul 4 doi: 10.1016/j.cllc.2021.06.010. PMID: 34321190
Champion CD, Ren Y, Thomas SM, Fayanju OM, Rosenberger LH, Greenup RA, Menendez CS, Hwang ES, Plichta JK
Ann Surg Oncol 2019 Oct;26(10):3124-3132. Epub 2019 Jul 24 doi: 10.1245/s10434-019-07556-9. PMID: 31342393Free PMC Article
Inamoto T, Matsuyama H, Ibuki N, Komura K, Takahara K, Fujimoto K, Shiina H, Sakano S, Nagao K, Miyake M, Tatsumi Y, Yasumoto H, Azuma H; Nishinihon Uro-Oncology Collaborative Group
J Urol 2018 Apr;199(4):933-939. Epub 2017 Oct 14 doi: 10.1016/j.juro.2017.10.019. PMID: 29037861
Wight L, Owen D, Goldbloom D, Knupp M
Injury 2017 Oct;48(10):2027-2034. Epub 2017 Aug 12 doi: 10.1016/j.injury.2017.08.011. PMID: 28826653
Lin FR, Metter EJ, O'Brien RJ, Resnick SM, Zonderman AB, Ferrucci L
Arch Neurol 2011 Feb;68(2):214-20. doi: 10.1001/archneurol.2010.362. PMID: 21320988Free PMC Article

Clinical prediction guides

Sakai K, Mizukami T, Leipsic J, Belmonte M, Sonck J, Nørgaard BL, Otake H, Ko B, Koo BK, Maeng M, Jensen JM, Buytaert D, Munhoz D, Andreini D, Ohashi H, Shinke T, Taylor CA, Barbato E, Johnson NP, De Bruyne B, Collet C
JACC Cardiovasc Imaging 2023 Nov;16(11):1452-1464. Epub 2023 Jul 19 doi: 10.1016/j.jcmg.2023.05.018. PMID: 37480908
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS
Acta Neuropathol 2023 Aug;146(2):353-368. Epub 2023 Apr 29 doi: 10.1007/s00401-023-02579-9. PMID: 37119330Free PMC Article
Lezcano C, Berwick M, Luo L, Barnhill R, Duncan LM, Gerami P, Lowe L, Messina JL, Scolyer RA, Wood B, Yeh I, Zembowicz A, Busam KJ
Pathology 2023 Mar;55(2):223-226. Epub 2023 Jan 2 doi: 10.1016/j.pathol.2022.12.347. PMID: 36653238Free PMC Article
Sinagra G, Carriere C, Clemenza F, Minà C, Bandera F, Zaffalon D, Gugliandolo P, Merlo M, Guazzi M, Agostoni P
Eur J Prev Cardiol 2020 Dec;27(2_suppl):52-58. doi: 10.1177/2047487320961898. PMID: 33238741Free PMC Article
Kulac I, Haffner MC, Yegnasubramanian S, Epstein JI, De Marzo AM
Curr Opin Urol 2015 May;25(3):238-45. doi: 10.1097/MOU.0000000000000165. PMID: 25730327Free PMC Article

Recent systematic reviews

Jankaew A, Chen JC, Chamnongkich S, Lin CF
Sports Health 2023 Jul-Aug;15(4):497-511. Epub 2022 Aug 22 doi: 10.1177/19417381221118085. PMID: 35996322Free PMC Article
Joshua TG, Ayub A, Wijesinghe P, Nunez DA
JAMA Otolaryngol Head Neck Surg 2022 Jan 1;148(1):5-11. doi: 10.1001/jamaoto.2021.2685. PMID: 34709348Free PMC Article
Loughrey DG, Kelly ME, Kelley GA, Brennan S, Lawlor BA
JAMA Otolaryngol Head Neck Surg 2018 Feb 1;144(2):115-126. doi: 10.1001/jamaoto.2017.2513. PMID: 29222544Free PMC Article
Marsh PD, Zaura E
J Clin Periodontol 2017 Mar;44 Suppl 18:S12-S22. doi: 10.1111/jcpe.12679. PMID: 28266111
Travis WD, Brambilla E, Noguchi M, Nicholson AG, Geisinger KR, Yatabe Y, Beer DG, Powell CA, Riely GJ, Van Schil PE, Garg K, Austin JH, Asamura H, Rusch VW, Hirsch FR, Scagliotti G, Mitsudomi T, Huber RM, Ishikawa Y, Jett J, Sanchez-Cespedes M, Sculier JP, Takahashi T, Tsuboi M, Vansteenkiste J, Wistuba I, Yang PC, Aberle D, Brambilla C, Flieder D, Franklin W, Gazdar A, Gould M, Hasleton P, Henderson D, Johnson B, Johnson D, Kerr K, Kuriyama K, Lee JS, Miller VA, Petersen I, Roggli V, Rosell R, Saijo N, Thunnissen E, Tsao M, Yankelewitz D
J Thorac Oncol 2011 Feb;6(2):244-85. doi: 10.1097/JTO.0b013e318206a221. PMID: 21252716Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...