Page 166 - 南京医科大学自然版
P. 166

第45卷第6期
               ·904 ·                            南 京    医 科 大 学 学         报                        2025年6月


             [9] HAYFLICK S J,WESTAWAY S K,LEVINSON B,et al.         and genotype ⁃ phenotype correlation of pantothenate ki⁃
                   Genetic,clinical,and radiographic delineation of Haller⁃  nase ⁃ associated neurodegeneration[J]. CNS Neurosci
                   vorden⁃Spatz syndrome[J]. N Engl J Med,2003,348(1):  Ther,2020,26(7):754-761
                   33-40                                        [19]中华医学会神经病学分会帕金森病及运动障碍学组,
             [10]AGOSTINI F,SGALLETTA B,BISAGLIA M. Iron dysho⁃      中国医师协会神经内科医师分会帕金森病及运动障碍
                   meostasis in neurodegeneration with brain iron accumula⁃  专业. 脑组织铁沉积神经变性病诊治专家共识[J]. 中
                   tion(NBIA):is it the cause or the effect?[J]. Cells,2024,  华医学杂志,2016,96(27):2126-2133
                   13(16):1376                                       Parkinson’s Disease and Movement Disorders Group,Chi⁃
             [11]CHIAPPARINI L,SAVOIARDO M,D’ARRIGO S,et al.         nese Society of Neurology,Chinese Medical Association,
                   The“eye⁃of⁃the⁃tiger”sign may be absent in the early  Parkinson’s Disease and Movement Disorders Specialty
                   stages of classic pantothenate kinase associated neurode⁃  Group,Chinese Neurologists Association of Chinese Medi⁃
                   generation[J]. Neuropediatrics,2011,42(4):159-162  cal Doctor Association. Expert consensus on the diagnosis
             [12]BAUMEISTER F A,AUER D P,HÖRTNAGEL K,et al.          and treatment of neurodegenerative diseases with brain
                   The eye⁃of⁃the⁃tiger sign is not a reliable disease marker  iron accumulation[J]. National Medical Journal of China,
                   for Hallervorden ⁃ Spatz syndrome[J]. Neuropediatrics,  2016,96(27):2126-2133

                   2005,36(3):221-222                           [20]HOGARTH P,KURIAN M A,GREGORY A,et al. Con⁃
             [13]HAYFLICK S J,HARTMAN M,CORYELL J,et al. Brain       sensus clinical management guideline for pantothenate ki⁃
                   MRI in neurodegeneration with brain iron accumulation  nase⁃associated neurodegeneration(PKAN)[J]. Mol Gen⁃
                   with and without PANK2 mutations[J]. AJNR Am J Neu⁃  et Metab,2017,120(3):278-287
                   roradiol,2006,27(6):1230-1233                [21]KLOPSTOCK T,VIDENOVIC A,BISCHOFF A T,et al.
             [14]DELGADO R F,SANCHEZ P R,SPECKTER H,et al.           Fosmetpantotenate randomized controlled trial in panto⁃
                   Missense PANK2 mutation without “eye of the tiger”  thenate kinase⁃associated neurodegeneration[J]. Mov Dis⁃
                   sign:MR findings in a large group of patients with panto⁃  ord,2021,36(6):1342-1352
                   thenate kinase⁃associated neurodegeneration(PKAN)[J].  [22]KLOPSTOCK T,TRICTA F,NEUMAYR L,et al. Safety
                   J Magn Reson Imaging,2012,35(4):788-794           and efficacy of deferiprone for pantothenate kinase⁃associ⁃
             [15]VALENTINO P,ANNESI G,CIRÒ CANDIANO I C,et al.       ated neurodegeneration:a randomised,double⁃blind,con⁃
                  Genetic heterogeneity in patients with pantothenate kinase  trolled trial and an open⁃label extension study[J]. Lancet
                  ⁃associated neurodegeneration and classic magnetic reso⁃  Neurol,2019,18(7):631-642
                  nance imaging eye⁃of⁃the⁃tiger pattern[J]. Mov Disord,  [23]SVETEL M,TOMIC A,DRAGAŠEVIC N,et al. Clinical
                  2006,21(2):252-254                                 course of patients with pantothenate kinase ⁃ associated
             [16]BARRITT S A,DUBOIS⁃COYNE S E,DIBBLE C C. Co⁃        neurodegeneration(PKAN)before and after DBS sur⁃
                   enzyme a biosynthesis:mechanisms of regulation,func⁃  gery[J]. J Neurol,2019,266(12):2962-2969
                   tion and disease[J]. Nat Metab,2024,6(6):1008-1023  [24]POHANE M R,DAFRE R,SONTAKKE N G. Diagnosis
             [17]LI W B,SHEN N X,ZHANG C,et al. Novel PANK2 mu⁃      and treatment of pantothenate kinase⁃associated neurode⁃
                   tations in patients with pantothenate kinase ⁃ associated  generation(PKAN):a systematic review[J]. Cureus,
                   neurodegeneration and the genotype⁃phenotype correla⁃  2023,15(9):e46135
                   tion[J]. Front Aging Neurosci,2022,14:848919                           [收稿日期] 2024-10-30
             [18]CHANG X,ZHANG J,JIANG Y,et al. Natural history                               (本文编辑:唐       震)
   161   162   163   164   165   166   167   168