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               deficits are pervasive across both classical and overlap frontotemporal   structural,and microstructural changes in presymptomatic C9orf72
               dementia syndromes[J]. Dement Geriatr Cogn Dis Extra,2020,  carriers younger than 40 years[J]. JAMA Neurol,2018,75(2):
               10(3):115-126. DOI:10.1159/000511329.                236-245. DOI:10.1001/jamaneurol.2017.4266.
           [13]XU Z W,LEE A,NOUWENS A,et al. Mass spectrometry   [27]ANDERSEN  P  M,AL-CHALABI  A.  Clinical  genetics  of
               analysis  of  plasma  from  amyotrophic  lateral  sclerosis  and   amyotrophic lateral sclerosis:what do we really know?[J].
               control subjects[J]. Amyotroph Lateral Scler Frontotemporal   Nat  Rev  Neurol,2011,7(11):603-615.  DOI:
               Degener,2018,19(5/6):362-376.  DOI:                  10.1038/nrneurol.2011.150.
               10.1080/21678421.2018.1433689.                  [28]LING S C. Synaptic paths to neurodegeneration:the emerging role of
           [14]ILLÁN-GALA  I,ALCOLEA  D,MONTAL  V,et  al.  CSF      TDP-43 and FUS in synaptic functions[J]. Neural Plast,2018,
               sAPPβ,YKL-40,and NfL along the ALS-FTD spectrum[J].   2018:8413496. DOI:10.1155/2018/8413496.
               N eur ology, 20 18 , 91 ( 1 7) : e16 19 - 1 628 .  DO I :  [29]WEI Q Q,CHEN X P,CHEN Y P,et al. Unique characteristics
               10.1212/WNL.0000000000006383.                        of the genetics epidemiology of amyotrophic lateral sclerosis in
           [15]AGOSTA F,FERRARO P M,RIVA N,et al. Structural brain   China[J]. Sci China Life Sci,2019,62(4):517-525.
               correlates of cognitive and behavioral impairment in MND[J].   DOI:10.1007/s11427-018-9453-x.
               Hum  Brain  Mapp,2016,37(4):1614-1626.  DOI:    [30]ANDERSEN  P  M,AL-CHALABI  A.  Clinical  genetics  of
               10.1002/hbm.23124.
                                                                    amyotrophic lateral sclerosis:what do we really know?[J].
           [16]CONSONNI M,CONTARINO V E,CATRICALÀ E,et al.
                                                                    Nat  Rev  Neurol,2011,7(11):603-615.  DOI:
               Cortical markers of cognitive syndromes in amyotrophic lateral
                                                                    10.1038/nrneurol.2011.150.
               sclerosis[J]. Neuroimage Clin,2018,19:675-682. DOI:
                                                               [31]CANNAS A,BORGHERO G,FLORIS G L,et al. The p.A382T
               10.1016/j.nicl.2018.05.020.
                                                                    TARDBP gene mutation in Sardinian patients affected by Parkinson's
           [17]GELLERSEN  H  M,GUO  C  C,O'CALLAGHAN  C,et  al.
                                                                    disease and other degenerative parkinsonisms[J]. Neurogenetics,
               Cerebellar atrophy in neurodegeneration-a meta-analysis[J].
                                                                    2013,14(2):161-166. DOI:10.1007/s10048-013-0360-2.
               J Neurol Neurosurg Psychiatry,2017,88(9):780-788. DOI:
                                                               [32]MILANOWSKI L,SITEK E J,DULSKI J,et al. Cognitive
               10.1136/jnnp-2017-315607.
                                                                    and behavioral profile of Perry syndrome in two families[J].
           [18]KELLER J,BÖHM S,AHO-ÖZHAN H E A,et al. Functional
                                                                    Parkinsonism Relat Disord,2020,77:114-120. DOI:10.1016/j.
               reorganization during cognitive function tasks in patients with
                                                                    parkreldis.2020.05.019.
               amyotrophic lateral sclerosis[J]. Brain Imaging Behav,2018,12(3):
                                                               [33]KONNO  T,ROSS  O  A,TEIVE  H  A  G,et  al.  DCTN1-
               771-784. DOI:10.1007/s11682-017-9738-3.
                                                                    related neurodegeneration:Perry syndrome and beyond[J].
           [19]WITIUK K,FERNANDEZ-RUIZ J,MCKEE R,et al. Cognitive
                                                                    Parkinsonism Relat Disord,2017,41:14-24. DOI:10.1016/j.
               deterioration and functional compensation in ALS measured with
                                                                    parkreldis.2017.06.004.
               fMRI using an inhibitory task[J]. J Neurosci,2014,34(43):
                                                               [34]CHO H,SHUKLA S. Role of edaravone as a treatment option for
               14260-14271. DOI:10.1523/jneurosci.1111-14.2014.
                                                                    patients with amyotrophic lateral sclerosis[J]. Pharmaceuticals
           [20]AGOSTA  F,CANU  E,INUGGI  A,et  al.  Resting  state
                                                                    (Basel),2020,14(1):29. DOI:10.3390/ph14010029.
               functional connectivity alterations in primary lateral sclerosis[J].
                                                               [35]JIANG J,ZHU Q,GENDRON T F,et al. Gain of toxicity from
               Neurobiol Aging,2014,35(4):916-925. DOI:10.1016/j.
                                                                    ALS/FTD-linked repeat expansions in C9ORF72 is alleviated
               neurobiolaging.2013.09.041.
                                                                    by antisense oligonucleotides targeting GGGGCC-containing
           [21]SMALLWOOD SHOUKRY R F,CLARK M G,FLOETER M K.
                                                                    RNAs[J].  Neuron,2016,90(3):535-550.  DOI:
               Resting state functional connectivity is decreased globally across
               the C9orf72 mutation spectrum[J]. Front Neurol,2020,11:  10.1016/j.neuron.2016.04.006.
               598474. DOI:10.3389/fneur.2020.598474.          [36]POZZI S,THAMMISETTY S S,CODRON P,et al. Virus-
           [22]沈东超,彭攀,崔丽英 . 肌萎缩侧索硬化患者的功能核磁共                         mediated delivery of antibody targeting TAR DNA-binding
               振成像研究进展[J].  中华神经科杂志,2015,48(12):                    protein-43 mitigates associated neuropathology[J]. J Clin
               1113-1115. DOI:10.3760/cma.j.issn.1006-7876.2015.12.021.  Invest,2019,129(4):1581-1595. DOI:10.1172/JCI123931.
           [23]LULÉ D,BÖHM S,MÜLLER H P,et al. Cognitive phenotypes of   [37]KNIPPENBERG S,RATH K J,BÖSELT S,et al. Intraspinal
               sequential staging in amyotrophic lateral sclerosis[J]. Cortex,  administration of human spinal cord-derived neural progenitor
               2018,101:163-171. DOI:10.1016/j.cortex.2018.01.004.  cells in the G93A-SOD1 mouse model of ALS delays symptom
           [24]MARJANOVIC I V,SELAK-DJOKIY B,PERIY S,et al.         progression,prolongs survival and increases expression of
               Comparison of the clinical and cognitive features of genetically   endogenous neurotrophic factors[J]. J Tissue Eng Regen Med,
               positive ALS patients from the largest tertiary center in Serbia[J].   2017,11(3):751-764. DOI:10.1002/term.1972.
               J Neurol,2017,264(6):1091-1098. DOI:10.1007/s00415-  [38]BERRY J D,CUDKOWICZ M E,WINDEBANK A J,et al.
               017-8495-y.                                          NurOwn,phase  2,randomized,clinical  trial  in  patients
           [25]PATEL A N,SAMPSON J B. Cognitive profile of C9orf72 in   with  ALS:safety,clinical,and  biomarker  results[J].
               frontotemporal dementia and amyotrophic lateral sclerosis[J].   N eur ology, 20 19 , 93 ( 2 4) : e22 94 - 2 305 .  DO I :
               Curr Neurol Neurosci Rep,2015,15(9):59. DOI:10.1007/  10.1212/WNL.0000000000008620.
               s11910-015-0582-9.                              [39]CANOSA A,PALUMBO F,IAZZOLINO B,et al. The interplay
           [26]BERTRAND A,WEN J H,RINALDI D,et al. Early cognitive,  among education,brain metabolism,and cognitive impairment
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