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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
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Recent clinical studies

Etiology

Akyay A, Soylu E, Ünsal S, Demirol H, Bahçeci S
J Paediatr Child Health 2021 Jul;57(7):1060-1066. Epub 2021 Feb 18 doi: 10.1111/jpc.15392. PMID: 33600619
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Am J Surg Pathol 2021 Apr 1;45(4):537-542. doi: 10.1097/PAS.0000000000001610. PMID: 33105157
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Arboix A, Martí-Vilalta JL
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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
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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
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Thaisetthawatkul P
Curr Neurol Neurosci Rep 2016 Aug;16(8):74. doi: 10.1007/s11910-016-0673-2. PMID: 27338613

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
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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

Rehman H, Samad Z, Mishra SR, Merchant AT, Narula JP, Mishra S, Virani SS
Indian Heart J 2018 Sep-Oct;70(5):721-730. Epub 2018 Jan 31 doi: 10.1016/j.ihj.2018.01.029. PMID: 30392513Free PMC Article
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Acta Otorhinolaryngol Ital 2015 Oct;35(5):338-42. doi: 10.14639/0392-100X-590. PMID: 26824916Free PMC Article
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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
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Parodi M, Rouillon I, Rebours C, Denoyelle F, Loundon N
Eur Ann Otorhinolaryngol Head Neck Dis 2017 Dec;134(6):415-418. Epub 2017 May 4 doi: 10.1016/j.anorl.2017.03.009. PMID: 28479298
de Vet HC, Terwee CB, Knol DL, Bouter LM
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Recent systematic reviews

Jankaew A, Chen JC, Chamnongkich S, Lin CF
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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
Marsh PD, Zaura E
J Clin Periodontol 2017 Mar;44 Suppl 18:S12-S22. doi: 10.1111/jcpe.12679. PMID: 28266111

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