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Pure or complex autosomal dominant spastic paraplegia

MedGen UID:
1842222
Concept ID:
C5679886
Disease or Syndrome
Synonym: Pure or complicated autosomal dominant spastic paraplegia
 
Orphanet: ORPHA320342

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

Wang J, Fang F, Ding C, Li J, Wu Y, Zhang W, Bao X, Lv J, Wang X, Ren X; Paediatric Neurology Study Group
Dev Med Child Neurol 2023 Mar;65(3):416-423. Epub 2022 Sep 15 doi: 10.1111/dmcn.15385. PMID: 36109173
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
Casadevall N, Eckardt KU, Rossert J
J Am Soc Nephrol 2005 Mar;16 Suppl 1:S67-9. doi: 10.1681/asn.2004110959. PMID: 15938038
Rossert J, Casadevall N, Eckardt KU
J Am Soc Nephrol 2004 Feb;15(2):398-406. doi: 10.1097/01.asn.0000107561.59698.42. PMID: 14747386

Diagnosis

Means RT Jr
Am J Med Sci 2023 Sep;366(3):160-166. Epub 2023 Jun 14 doi: 10.1016/j.amjms.2023.06.009. PMID: 37327996
Gurnari C, Maciejewski JP
Blood 2021 Apr 15;137(15):2001-2009. doi: 10.1182/blood.2021010898. PMID: 33657207Free PMC Article
Foster Z, Kini A, Al Othman B, Lee AG, Vaphiades M
Surv Ophthalmol 2020 May-Jun;65(3):386-390. Epub 2019 Apr 4 doi: 10.1016/j.survophthal.2019.03.008. PMID: 30953621
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

Therapy

Aran A, Cayam Rand D
Expert Opin Emerg Drugs 2024 Mar;29(1):65-79. Epub 2024 Jan 23 doi: 10.1080/14728214.2024.2306290. PMID: 38226593
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
Welty FK
Curr Opin Lipidol 2020 Aug;31(4):206-231. doi: 10.1097/MOL.0000000000000689. PMID: 32692035
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
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

Obeidat FS, Alghwiri AA, Mansieh AJ, Aqrabawi W, Bell SL
Int J Audiol 2023 Sep;62(9):893-899. Epub 2022 Sep 19 doi: 10.1080/14992027.2022.2120553. PMID: 36121034
Kim YE, Jung YS, Ock M, Yoon SJ
J Prev Med Public Health 2022 Jan;55(1):10-18. Epub 2022 Jan 19 doi: 10.3961/jpmph.21.597. PMID: 35135044Free PMC Article
Lohi V, Ohtonen P, Sorri M, Mäki-Torkko E, Hannula S
Int J Audiol 2021 Sep;60(9):687-694. Epub 2021 Jan 10 doi: 10.1080/14992027.2020.1865581. PMID: 33426978
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
Casadevall N, Eckardt KU, Rossert J
J Am Soc Nephrol 2005 Mar;16 Suppl 1:S67-9. doi: 10.1681/asn.2004110959. PMID: 15938038

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
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
Sakaguchi Y, Isowa N, Tokuyasu H, Miura H
Ann Thorac Cardiovasc Surg 2014;20 Suppl:578-81. Epub 2013 Mar 22 doi: 10.5761/atcs.cr.12.02222. PMID: 23518632
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Neurology 2007 Apr 17;68(16):1311-4. doi: 10.1212/01.wnl.0000259524.08148.16. PMID: 17438223
de Vet HC, Terwee CB, Knol DL, Bouter LM
J Clin Epidemiol 2006 Oct;59(10):1033-9. Epub 2006 Aug 10 doi: 10.1016/j.jclinepi.2005.10.015. PMID: 16980142

Recent systematic reviews

Zhang MW, Liang XY, Wang J, Gao LD, Liao HJ, He YH, Yi YH, He N, Liao WP; China Epilepsy Gene 1.0 Project
Seizure 2024 Mar;116:4-13. Epub 2023 Sep 23 doi: 10.1016/j.seizure.2023.09.021. PMID: 37777370
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
Bonnet U, Scherbaum N
Eur Neuropsychopharmacol 2017 Dec;27(12):1185-1215. Epub 2017 Oct 5 doi: 10.1016/j.euroneuro.2017.08.430. PMID: 28988943

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