Subthalamic nucleus deep brain stimulation in the treatment of pantothenate kinase-associated neurodegeneration: one case report

doi:10.3969/j.issn.1672-6731.2022.03.015

Abstract

Key words: Deep brain stimulation, Subthalamic nucleus, Pantothenate kinase-associated neurodegeneration, Case reports

关键词: 深部脑刺激法, 丘脑底核, 泛酸激酶相关性神经退行性疾病, 病例报告

Lü Hong, WANG Jun, YU Hong-mei, YAN Xue-jing, LIU Ji-yuan, HE Zhi-yi. Subthalamic nucleus deep brain stimulation in the treatment of pantothenate kinase-associated neurodegeneration: one case report[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2022, 22(3): 211-215.

吕红, 王军, 禹红梅, 阎雪晶, 刘济源, 何志义. 丘脑底核脑深部电刺激术治疗泛酸激酶相关神经变性一例[J]. 中国现代神经疾病杂志, 2022, 22(3): 211-215.

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URL: https://journal11.magtechjournal.com/cjcnn/EN/10.3969/j.issn.1672-6731.2022.03.015

https://journal11.magtechjournal.com/cjcnn/EN/Y2022/V22/I3/211

References

[1] Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome[J]. N Engl J Med, 2003, 348:33-40.
[2] Hogarth P, Kurian MA, Gregory A, Csányi B, Zagustin T, Kmiec T, Wood P, Klucken A, Scalise N, Sofia F, Klopstock T, Zorzi G, Nardocci N, Hayflick SJ. Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)[J]. Mol Genet Metab, 2017, 120:278-287.
[3] Hayflick SJ. Neurodegeneration with brain iron accumulation:from genes to pathogenesisρ[J]. Semin Pediatr Neurol, 2006, 13:182-185.
[4] Wang SN,Sun B,Ding N, Li S. Hallervorden-Spatz disease:3 cases report and review of literatures[J]. Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi,2014, 14:110-116.[王诗男, 孙斌, 丁楠, 李澍. Hallervorden-Spatz病:三例报告并文献复习[J]. 中国现代神经疾病杂志, 2014, 14:110-116.]
[5] Pan S, Zhu C. Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations:clinical description and a review of the literature[J]. Neurocase, 2020, 26:175-182.
[6] Li XY, Chen XW. Advances in inherited and clinical research of pantothenate kinase-associated neurodegeneration[J]. Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi,2012, 12:367-371.[李小元, 陈先文. 泛酸激酶相关性神经变性疾病遗传学与临床研究进展[J]. 中国现代神经疾病杂志, 2012, 12:367-371.]
[7] Cossu G, Abbruzzese G, Matta G, Murgia D, Melis M, Ricchi V, Galanello R, Barella S, Origa R, Balocco M, Pelosin E, Marchese R, Ruffinengo U, Forni GL. Efficacy and safety of deferiprone for the treatment of pantothenate kinase-associated neurodegeneration (PKAN) and neurodegeneration with brain iron accumulation (NBIA):results from a four years follow-up[J]. Parkinsonism Relat Disord, 2014, 20:651-654.
[8] Woon K, Tsegaye M, Vloeberghs MH. The role of intrathecal baclofen in the management of primary and secondary dystonia in children[J]. Br J Neurosurg, 2007, 21:355-358.
[9] Castelnau P, Cif L, Valente EM, Vayssiere N, Hemm S, Gannau A, Digiorgio A, Coubes P. Pallidal stimulation improves pantothenate kinase-associated neurodegeneration[J]. Ann Neurol, 2005, 57:738-741.
[10] Timmermann L, Pauls KA, Wieland K, Jech R, Kurlemann G, Sharma N, Gill SS, Haenggeli CA, Hayflick SJ, Hogarth P, Leenders KL, Limousin P, Malanga CJ, Moro E, Ostrem JL, Revilla FJ, Santens P, Schnitzler A, Tisch S, Valldeoriola F, Vesper J, Volkmann J, Woitalla D, Peker S. Dystonia in neurodegeneration with brain iron accumulation:outcome of bilateral pallidal stimulation[J]. Brain, 2010, 133(Pt 3):701-712.
[11] Lim BC, Ki CS, Cho A, Hwang H, Kim KJ, Hwang YS, Kim YE, Yun JY, Jeon BS, Lim YH, Paek SH, Chae JH. Pantothenate kinase-associated neurodegeneration in Korea:recurrent R440P mutation in PANK2 and outcome of deep brain stimulation[J]. Eur J Neurol, 2012, 19:556-561.
[12] De Vloo P, Lee DJ, Dallapiazza RF, Rohani M, Fasano A, Munhoz RP, Ibrahim GM, Hodaie M, Lozano AM, Kalia SK. Deep brain stimulation for pantothenate kinase-associated neurodegeneration:a meta-analysis[J]. Mov Disord, 2019, 34:264-273.
[13] Svetel M, Tomić A, Dragašević N, Petrović I, Kresojević N, Jech R, Urgošik D, Banjac I, Vitković J, Novaković I, Kostić VS. Clinical course of patients with pantothenate kinase-associated neurodegeneration (PKAN) before and after DBS surgery[J]. J Neurol, 2019, 266:2962-2969.
[14] Ge M, Zhang K, Ma Y, Meng FG, Hu WH, Yang AC, Zhang JG. Bilateral subthalamic nucleus stimulation in the treatment of neurodegeneration with brain iron accumulation type 1[J]. Stereotact Funct Neurosurg, 2011, 89:162-166.
[15] Liu Z, Liu Y, Yang Y, Wang L, Dou W, Guo J, Wang Y, Guo Y, Wan X, Ma W, Wang R. Subthalamic nuclei stimulation in patients with pantothenate kinase-associated neurodegeneration (PKAN)[J]. Neuromodulation, 2017, 20:484-491.
[16] Schjerling L, Hjermind LE, Jespersen B, Madsen FF, Brennum J, Jensen SR, Løkkegaard A, Karlsborg M. A randomized double-blind crossover trial comparing subthalamic and pallidal deep brain stimulation for dystonia[J]. J Neurosurg, 2013, 119:1537-1545.
[17] Brüggemann N, Kühn A, Schneider SA, Kamm C, Wolters A, Krause P, Moro E, Steigerwald F, Wittstock M, Tronnier V, Lozano AM, Hamani C, Poon YY, Zittel S, Wächter T, Deuschl G, Krüger R, Kupsch A, Münchau A, Lohmann K, Volkmann J, Klein C. Short-and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia[J]. Neurology, 2015, 84:895-903.
[18] Park HR, Lee JM, Ehm G, Yang HJ, Song IH, Lim YH, Kim MR, Kim KR, Lee WW, Kim YE, Hwang JH, Shin CW, Park H, Kim JW, Kim HJ, Kim C, Kim DG, Jeon BS, Paek SH. Long-term clinical outcome of internal globus pallidus deep brain stimulation for dystonia[J]. PLoS One, 2016, 11:e0146644.
[19] Grabli D, Ewenczyk C, Coelho-Braga MC, Lagrange C, Fraix V, Cornu P, Benabid AL, Vidailhet M, Pollak P. Interruption of deep brain stimulation of the globus pallidus in primary generalized dystonia[J]. Mov Disord, 2009, 24:2363-2369.
[20] Cheung T, Zhang C, Rudolph J, Alterman RL, Tagliati M. Sustained relief of generalized dystonia despite prolonged interruption of deep brain stimulation[J]. Mov Disord, 2013, 28:1431-1434.
[21] Goto S, Yamada K. Long term continuous bilateral pallidal stimulation produces stimulation independent relief of cervical dystonia[J]. J Neurol Neurosurg Psychiatry, 2004, 75:1506-1507.
[22] Hebb MO, Chiasson P, Lang AE, Brownstone RM, Mendez I. Sustained relief of dystonia following cessation of deep brain stimulation[J]. Mov Disord, 2007, 22:1958-1962.
[23] Krause M, Fogel W, Tronnier V, Pohle S, Hörtnagel K, Thyen U, Volkmann J. Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegeneration[J]. Mov Disord, 2006, 21:2255-2257.
[24] Pauls KA, Timmermann L. Deep brain stimulation in pantothenate kinase associated neurodegeneration:challenges for the future[J]. Eur J Neurol, 2012, 19:533-534.
[25] Andrews C, Aviles-Olmos I, Hariz M, Foltynie T. Which patients with dystonia benefit from deep brain stimulation:a metaregression of individual patient outcomes[J]. J Neurol Neurosurg Psychiatry, 2010, 81:1383-1389.
[26] Tomić A, Petrović I, Svetel M, Dobričić V, Dragašević Mišković N, Kostić VS. Pattern of disease progression in atypical form of pantothenate-kinase-associated neurodegeneration (PKAN)-prospective study[J]. Parkinsonism Relat Disord, 2015, 21:521-524.

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