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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

A multisociety Delphi consensus statement on new fatty liver disease nomenclature.
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
Progressive pulmonary fibrosis: an expert group consensus statement.
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
Autonomic dysfunction in Parkinson's disease: Implications for pathophysiology, diagnosis, and treatment.
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

Pure and non-pure meningioangiomatosis of 36 Chinese patients: an analysis of clinical presentation, diagnosis, histopathology and prognosis.
Zhang GB, Ying YZ, Huang HW, Yu WJ, Li HY, Zhang XK, Wang YG, Cui Y, Chen Y, Jiang ZL, Lin S
Neurosurg Rev 2022 Oct;45(5):3405-3415. Epub 2022 Sep 5 doi: 10.1007/s10143-022-01855-8. PMID: 36063221
Hearing status in vitamin B12-deficient children.
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
Postneoadjuvant Pure and Predominantly Pure Intralymphatic Breast Carcinoma: Case Series and Literature Review.
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
Pure arterial malformations.
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
Lacunar stroke.
Arboix A, Martí-Vilalta JL
Expert Rev Neurother 2009 Feb;9(2):179-96. doi: 10.1586/14737175.9.2.179. PMID: 19210194

Diagnosis

How I manage acquired pure red cell aplasia in adults.
Gurnari C, Maciejewski JP
Blood 2021 Apr 15;137(15):2001-2009. doi: 10.1182/blood.2021010898. PMID: 33657207Free PMC Article
Pure Autonomic Failure.
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
Pure autonomic failure.
Kabir MA, Chelimsky TC
Handb Clin Neurol 2019;161:413-422. doi: 10.1016/B978-0-444-64142-7.00064-3. PMID: 31307617
Pure autonomic failure.
Brown TP
Pract Neurol 2017 Oct;17(5):341-348. Epub 2017 Jul 17 doi: 10.1136/practneurol-2016-001559. PMID: 28717053
Pure Autonomic Failure.
Thaisetthawatkul P
Curr Neurol Neurosci Rep 2016 Aug;16(8):74. doi: 10.1007/s11910-016-0673-2. PMID: 27338613

Therapy

Hyperbaric Oxygen Therapy for Patients With Sudden Sensorineural Hearing Loss: A Systematic Review and Meta-analysis.
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
Efficacy of omega-3 PUFAs in depression: A meta-analysis.
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
Low-Level Laser Therapy for Fibromyalgia: A Systematic Review and Meta-Analysis.
Yeh SW, Hong CH, Shih MC, Tam KW, Huang YH, Kuan YC
Pain Physician 2019 May;22(3):241-254. PMID: 31151332
The effect of a reduction in alcohol consumption on blood pressure: a systematic review and meta-analysis.
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
Menstrual Migraine and Treatment Options: Review.
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

Clinical Behavior of Combined Versus Pure High-Grade Neuroendocrine Carcinoma.
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
Comparison of clinicopathological features and long-term prognosis between mixed predominantly differentiated-type and pure differentiated-type early gastric cancer.
Okagawa Y, Sumiyoshi T, Kondo H, Tomita Y, Uozumi T, Iida R, Sakano H, Tokuchi K, Jin T, Yoshida M, Sakurada A, Fujii R, Minagawa T, Morita K, Yane K, Ihara H, Hirayama M, Oyamada Y, Okushiba S
BMC Cancer 2021 Mar 6;21(1):235. doi: 10.1186/s12885-021-07962-x. PMID: 33676442Free PMC Article
Recent developments and controversies in transcatheter aortic valve implantation.
Ali N, Patel PA, Lindsay SJ
Eur J Heart Fail 2018 Apr;20(4):642-650. Epub 2018 Jan 25 doi: 10.1002/ejhf.1141. PMID: 29368369
Pure Ankle Dislocation: A systematic review of the literature and estimation of incidence.
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
Hearing loss and incident dementia.
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

Coronary Atherosclerosis Phenotypes in Focal and Diffuse Disease.
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
Risk stratification in cardiomyopathy.
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
Should Gleason 6 be labeled as cancer?
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
Should histologic variants alter definitive treatment of bladder cancer?
Willis DL, Porten SP, Kamat AM
Curr Opin Urol 2013 Sep;23(5):435-43. doi: 10.1097/MOU.0b013e328363e415. PMID: 23880739
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C, Schlipf N, Schüle R, Bonin M, Auer-Grumbach M, Stevanin G, Depienne C, Kassubek J, Klebe S, Klimpe S, Klopstock T, Otto S, Poths S, Seibel A, Stolze H, Gal A, Schöls L, Bauer P
Neurogenetics 2012 Aug;13(3):215-27. Epub 2012 May 3 doi: 10.1007/s10048-012-0329-6. PMID: 22552817

Recent systematic reviews

Hyperbaric Oxygen Therapy for Patients With Sudden Sensorineural Hearing Loss: A Systematic Review and Meta-analysis.
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
Association of Age-Related Hearing Loss With Cognitive Function, Cognitive Impairment, and Dementia: A Systematic Review and Meta-analysis.
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
How addictive are gabapentin and pregabalin? A systematic review.
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
Dental biofilm: ecological interactions in health and disease.
Marsh PD, Zaura E
J Clin Periodontol 2017 Mar;44 Suppl 18:S12-S22. doi: 10.1111/jcpe.12679. PMID: 28266111
International association for the study of lung cancer/american thoracic society/european respiratory society international multidisciplinary classification of lung adenocarcinoma.
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

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