额颞叶变性的异质性
|
摘要
额颞叶变性(frontotemporal lobar degeneration,FTLD)是一组常见的痴呆症候群,尤其是在小于65岁的患者中。它包括一组以进行性行为异常、执行功能障碍或语言损害为主要特征的神经退行性疾病。因其潜在基因和病理的多样性,FTLD表现为多种临床表型,且其临床和神经影像表现呈现不同程度的重叠。额颞叶变性临床、基因、病理的异质性为早期正确诊断、精准治疗疾病提出了极大挑战。
Frontotemporal lobar degeneration(FTLD)is a common form of dementia,particularly in patients younger than 65 years. It contains a group of neurodegenerative diseases characterized by progressive deficits in behaviour,executive function,or language. Diverse underlying genetic and neuropathological causes give rise to the frontotemporal dementia clinical phenotype with overlapping symptoms and neuroimaging findings. The clinical,genetics and pathological heterogeneity of FTLD pose a great challenge for early accurate diagnosis and treatment of disease.
Frontotemporal lobar degeneration(FTLD)is a common form of dementia,particularly in patients younger than 65 years. It contains a group of neurodegenerative diseases characterized by progressive deficits in behaviour,executive function,or language. Diverse underlying genetic and neuropathological causes give rise to the frontotemporal dementia clinical phenotype with overlapping symptoms and neuroimaging findings. The clinical,genetics and pathological heterogeneity of FTLD pose a great challenge for early accurate diagnosis and treatment of disease.
引文
[1]中华医学会老年医学分会老年神经病学组额颞叶变性专家.额颞叶变性专家共识[J].中华神经科杂志,2014,47(5):351-356.
[2]Vieira RT,Caixeta L,Machado S,et al.Epidemiology of early-onset dementia:a review of the literature[J].Clinical Practice&Epidemiology in Mental Health,2013,9(1):88-95.
[3]Hogan DB,JettéN,Fiest KM,et al.The prevalence and incidence of frontotemporal dementia:a systematic review[J].Canadian Journal of Neurological Sciences/Journal Canadien des Sciences Neurologiques,2016,43(s1):96-109.
[4]Forman MS,Farmer J,Johnson JK,et al.Frontotemporal dementia:clinicopathological correlations[J].Annals of Neurology,2006,59(6):952-962.
[5]Onyike CU,Diehlschmid J.The epidemiology of frontotemporal dementia[J].International Review of Psychiatry,2013,25(2):130-137.
[6]Coyle-Gilchrist IT,Dick KM,Patterson K,et al.Prevalence,characteristics,and survival of frontotemporal lobar degeneration syndromes[J].Neurology,2016,86(18):1736-1743.
[7]Hodges J,Davies R,Xuereb J,et al.Survival in frontotemporal dementia[J].Neurology,2003,61(3):349-354.
[8]Le Ber I,Guedj E,Gabelle A,et al.Demographic,neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia[J].Brain,2006,129(11):3051-3065.
[9]Gornotempini ML,Dronkers NF,Rankin KP,et al.Cognition and anatom y in three variants of primary progressive aphasia[J].Annals of neurology,2004,55(3):335-346.
[10]中华医学会神经病学分会帕金森病及运动障碍学组.中国进行性核上性麻痹临床诊断标准[J].中华神经科杂志,2016,49(4):272-276.
[11]Armstrong MJ,Litvan I,Lang AE,et al.Criteria for the diagnosis of corticobasal degeneration[J].Neurology,2013,80(5):496.
[12]Devenney E,Vucic S,Hodges JR,et al.Motor neuron diseasefrontotemporal dementia:a clinical continuum[J].Expert Review of Neurotherapeutics,2015,15(5):509-522.
[13]Woollacott IOC,Rohrer JD.The clinical spectrum of sporadic and familial forms of frontotemporal dementia[J].Journal of Neurochemistry,2016,138(S1):6-31.
[14]Le Ber I.Genetics of frontotemporal lobar degeneration:an update and diagnosis algorithm[J].Revue neurologique,2013,169(10):811-819.
[15]Dejesus-Hernandez M,Mackenzie I,Boeve B,et al.Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72causes chromosome 9p-linked FTD and ALS[J].Neuron,2011,72(2):245-256.
[16]Rademakers R,Neumann M,Mackenzie IR.Advances in understanding the molecular basis of frontotemporal dementia[J].Nature Reviews Neurology,2012,8(8):423-434.
[17]Snowden JS,Adams J,Harris J,et al.Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT,PGRN and C9orf72 mutations[J].Amyotrophic Lateral Sclerosis&Frontotemporal Degeneration,2015,16(7-8):497.
[18]Benussi A,Padovani A,Borroni B.Phenotypic heterogeneity of monogenic frontotemporal dementia[J].Frontiers in Aging Neuroscience,2015,7(171):171.
[19]Davion S,Johnson N,Weintraub S,et al.Clinicopathologic correlation in PGRN mutations[J].Neurology,2007,69(11):1113.
[20]Momeni P,De Tucci K,Straub RE,et al.Progranulin(GRN)in two siblings of a Latino family and in other patients with schizophrenia[J].Neurocase,2010,16(3):273-279.
[21]Snowden JS,Rollinson S,Thompson JC,et al.Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations[J].Brain,2012,135(3):693-708.
[22]Mahoney CJ,Beck J,Rohrer JD,et al.Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion:clinical,neuroanatomical and neuropathological features[J].Brain,2012,135(3):736.
[23]Mackenzie IR,Neumann M,Bigio EH,et al.Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration:an update[J].Acta neuropathologica,2010,119(1):1-4.
[24]Baborie A,Griffiths TD,Jaros E,et al.Pathological correlates of frontotemporal lobar degeneration in the elderly[J].Acta neuropathologica,2011,121(3):365-371.
[25]Josephs KA,Hodges JR,Snowden JS,et al.Neuropathological background of phenotypical variability in frontotemporal dementia[J].Acta neuropathologica,2011,122(2):137-153.
[26]Sieben A,Van Langenhove T,Engelborghs S,et al.The genetics and neuropathology of frontotemporal lobar degeneration[J].Acta neuropathologica,2012,124(3):353-372.
[27]Barker WW,Luis CA,Kashuba A,et al.Relative frequencies of Alzheimer disease,Lewy body,vascular and frontotemporal dementia,and hippocampal sclerosis in the State of Florida Brain Bank[J].Alzheimer Disease&Associated Disorders,2002,16(4):203-212.
[28]Van SJ,Spillantini MG.Hereditary frontotemporal dementia caused by Tau gene mutations[J].Brain Pathology,2007,17(1):63-73.
[29]Mackenzie IR,Neumann M,Baborie A,et al.A harmonized classification system for FTLD-TDP pathology[J].Acta neuropathologica,2011,122(1):111-113.
[30]Bang J,Spina S,Miller BL.Frontotemporal dementia[J].The Lancet,2015,386(10004):1672-1682.
[31]Mackenzie IR,Munoz DG,Kusaka H,et al.Distinct pathological subtypes of FTLD-FUS[J].Acta neuropathologica,2011,121(2):207-218.
[32]Jr KT,Bosco DA,Leclerc AL,et al.Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis[J].Science,2009,323(5918):1205-1208.
[33]Van LT,Van d ZJ,Sleegers K,et al.Genetic contribution of FUS to frontotemporal lobar degeneration[J].Neurology,2010,74(5):366-371.
[34]Seeley WW,Crawford R,Rascovsky K,et al.Frontal paralimbic network atrophy in very mild behavioral variant frontotemporal dementia[J].Archives of Neurology,2008,65(2):249-255.
[35]Schroeter ML,Raczka K,Neumann J,et al.Neural networks in frontotemporal dementia--a meta-analysis[J].Neurobiology of Aging,2008,29(3):418-426.
[36]Whitwell JL,Przybelski SA,Weigand SD,et al.Distinct anatomical subtypes of the behavioural variant of frontotemporal dementia:a cluster analysis study[J].Brain,2009,132(11):2932-2946.
[37]Whitwell JL,Weigand SD,Boeve BF,et al.Neuroimaging signatures of frontotemporal dementia genetics:C9ORF72,tau,progranulin and sporadics[J].Brain,2012,135(3):794.
[38]Mummery CJ,Patterson K,Wise RJS,et al.Disrupted temporal lobe connections in semantic dementia[J].Brain,1999,122(Pt1):61-73.
[39]Mummery CJ,Patterson K,Price CJ,et al.A voxel-based morphometry study of semantic dementia:relationship between temporal lobe atrophy and semantic memory[J].Annals of neurology,2000,47(1):36-45.
[40]Chan D,Fox NC,Scahill RI,et al.Patterns of temporal lobe atrophy in semantic dementia and Alzheimer’s disease[J].Annals of neurology,2001,49(4):433-442.
[41]Rohrer JD,Warren JD,Modat M,et al.Patterns of cortical thinning in the language variants of frontotemporal lobar degeneration[J].Neurology,2009,72(18):1562-1569.
[42]Ogar JM,Dronkers NF,Brambati SM,et al.Progressive nonfluent aphasia and its characteristic motor speech deficits[J].Alzheimer Disease&Associated Disorders,2007,21(s4):23.
[43]Bohnen NI,Djang DS,Herholz K,et al.Effectiveness and safety of 18F-FDG PET in the evaluation of dementia:a review of the recent literature[J].Journal of Nuclear Medicine Official Publication Society of Nuclear Medicine,2012,53(53):59-71.
[44]Gordon E,Rohrer JD,Fox NC.Advances in neuroimaging in frontotemporal dementia[J].Journal of Neurochemistry,2016,138(s1):193.
[45]Tsai RM,Boxer AL.Therapy and clinical trials in frontotemporal dementia:past,present,and future[J].Journal of Neurochemistry,2016,138(s1):211-221.
[46]Ghetti B,Oblak AL,Boeve BF,et al.Invited review:Frontotemporal dementia caused by microtubule-associated protein tau gene(MAPT)mutations:a chameleon for neuropathology and neuroimaging[J].Neuropathology&Applied Neurobiology,2015,41(1):24.
[2]Vieira RT,Caixeta L,Machado S,et al.Epidemiology of early-onset dementia:a review of the literature[J].Clinical Practice&Epidemiology in Mental Health,2013,9(1):88-95.
[3]Hogan DB,JettéN,Fiest KM,et al.The prevalence and incidence of frontotemporal dementia:a systematic review[J].Canadian Journal of Neurological Sciences/Journal Canadien des Sciences Neurologiques,2016,43(s1):96-109.
[4]Forman MS,Farmer J,Johnson JK,et al.Frontotemporal dementia:clinicopathological correlations[J].Annals of Neurology,2006,59(6):952-962.
[5]Onyike CU,Diehlschmid J.The epidemiology of frontotemporal dementia[J].International Review of Psychiatry,2013,25(2):130-137.
[6]Coyle-Gilchrist IT,Dick KM,Patterson K,et al.Prevalence,characteristics,and survival of frontotemporal lobar degeneration syndromes[J].Neurology,2016,86(18):1736-1743.
[7]Hodges J,Davies R,Xuereb J,et al.Survival in frontotemporal dementia[J].Neurology,2003,61(3):349-354.
[8]Le Ber I,Guedj E,Gabelle A,et al.Demographic,neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia[J].Brain,2006,129(11):3051-3065.
[9]Gornotempini ML,Dronkers NF,Rankin KP,et al.Cognition and anatom y in three variants of primary progressive aphasia[J].Annals of neurology,2004,55(3):335-346.
[10]中华医学会神经病学分会帕金森病及运动障碍学组.中国进行性核上性麻痹临床诊断标准[J].中华神经科杂志,2016,49(4):272-276.
[11]Armstrong MJ,Litvan I,Lang AE,et al.Criteria for the diagnosis of corticobasal degeneration[J].Neurology,2013,80(5):496.
[12]Devenney E,Vucic S,Hodges JR,et al.Motor neuron diseasefrontotemporal dementia:a clinical continuum[J].Expert Review of Neurotherapeutics,2015,15(5):509-522.
[13]Woollacott IOC,Rohrer JD.The clinical spectrum of sporadic and familial forms of frontotemporal dementia[J].Journal of Neurochemistry,2016,138(S1):6-31.
[14]Le Ber I.Genetics of frontotemporal lobar degeneration:an update and diagnosis algorithm[J].Revue neurologique,2013,169(10):811-819.
[15]Dejesus-Hernandez M,Mackenzie I,Boeve B,et al.Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72causes chromosome 9p-linked FTD and ALS[J].Neuron,2011,72(2):245-256.
[16]Rademakers R,Neumann M,Mackenzie IR.Advances in understanding the molecular basis of frontotemporal dementia[J].Nature Reviews Neurology,2012,8(8):423-434.
[17]Snowden JS,Adams J,Harris J,et al.Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT,PGRN and C9orf72 mutations[J].Amyotrophic Lateral Sclerosis&Frontotemporal Degeneration,2015,16(7-8):497.
[18]Benussi A,Padovani A,Borroni B.Phenotypic heterogeneity of monogenic frontotemporal dementia[J].Frontiers in Aging Neuroscience,2015,7(171):171.
[19]Davion S,Johnson N,Weintraub S,et al.Clinicopathologic correlation in PGRN mutations[J].Neurology,2007,69(11):1113.
[20]Momeni P,De Tucci K,Straub RE,et al.Progranulin(GRN)in two siblings of a Latino family and in other patients with schizophrenia[J].Neurocase,2010,16(3):273-279.
[21]Snowden JS,Rollinson S,Thompson JC,et al.Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations[J].Brain,2012,135(3):693-708.
[22]Mahoney CJ,Beck J,Rohrer JD,et al.Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion:clinical,neuroanatomical and neuropathological features[J].Brain,2012,135(3):736.
[23]Mackenzie IR,Neumann M,Bigio EH,et al.Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration:an update[J].Acta neuropathologica,2010,119(1):1-4.
[24]Baborie A,Griffiths TD,Jaros E,et al.Pathological correlates of frontotemporal lobar degeneration in the elderly[J].Acta neuropathologica,2011,121(3):365-371.
[25]Josephs KA,Hodges JR,Snowden JS,et al.Neuropathological background of phenotypical variability in frontotemporal dementia[J].Acta neuropathologica,2011,122(2):137-153.
[26]Sieben A,Van Langenhove T,Engelborghs S,et al.The genetics and neuropathology of frontotemporal lobar degeneration[J].Acta neuropathologica,2012,124(3):353-372.
[27]Barker WW,Luis CA,Kashuba A,et al.Relative frequencies of Alzheimer disease,Lewy body,vascular and frontotemporal dementia,and hippocampal sclerosis in the State of Florida Brain Bank[J].Alzheimer Disease&Associated Disorders,2002,16(4):203-212.
[28]Van SJ,Spillantini MG.Hereditary frontotemporal dementia caused by Tau gene mutations[J].Brain Pathology,2007,17(1):63-73.
[29]Mackenzie IR,Neumann M,Baborie A,et al.A harmonized classification system for FTLD-TDP pathology[J].Acta neuropathologica,2011,122(1):111-113.
[30]Bang J,Spina S,Miller BL.Frontotemporal dementia[J].The Lancet,2015,386(10004):1672-1682.
[31]Mackenzie IR,Munoz DG,Kusaka H,et al.Distinct pathological subtypes of FTLD-FUS[J].Acta neuropathologica,2011,121(2):207-218.
[32]Jr KT,Bosco DA,Leclerc AL,et al.Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis[J].Science,2009,323(5918):1205-1208.
[33]Van LT,Van d ZJ,Sleegers K,et al.Genetic contribution of FUS to frontotemporal lobar degeneration[J].Neurology,2010,74(5):366-371.
[34]Seeley WW,Crawford R,Rascovsky K,et al.Frontal paralimbic network atrophy in very mild behavioral variant frontotemporal dementia[J].Archives of Neurology,2008,65(2):249-255.
[35]Schroeter ML,Raczka K,Neumann J,et al.Neural networks in frontotemporal dementia--a meta-analysis[J].Neurobiology of Aging,2008,29(3):418-426.
[36]Whitwell JL,Przybelski SA,Weigand SD,et al.Distinct anatomical subtypes of the behavioural variant of frontotemporal dementia:a cluster analysis study[J].Brain,2009,132(11):2932-2946.
[37]Whitwell JL,Weigand SD,Boeve BF,et al.Neuroimaging signatures of frontotemporal dementia genetics:C9ORF72,tau,progranulin and sporadics[J].Brain,2012,135(3):794.
[38]Mummery CJ,Patterson K,Wise RJS,et al.Disrupted temporal lobe connections in semantic dementia[J].Brain,1999,122(Pt1):61-73.
[39]Mummery CJ,Patterson K,Price CJ,et al.A voxel-based morphometry study of semantic dementia:relationship between temporal lobe atrophy and semantic memory[J].Annals of neurology,2000,47(1):36-45.
[40]Chan D,Fox NC,Scahill RI,et al.Patterns of temporal lobe atrophy in semantic dementia and Alzheimer’s disease[J].Annals of neurology,2001,49(4):433-442.
[41]Rohrer JD,Warren JD,Modat M,et al.Patterns of cortical thinning in the language variants of frontotemporal lobar degeneration[J].Neurology,2009,72(18):1562-1569.
[42]Ogar JM,Dronkers NF,Brambati SM,et al.Progressive nonfluent aphasia and its characteristic motor speech deficits[J].Alzheimer Disease&Associated Disorders,2007,21(s4):23.
[43]Bohnen NI,Djang DS,Herholz K,et al.Effectiveness and safety of 18F-FDG PET in the evaluation of dementia:a review of the recent literature[J].Journal of Nuclear Medicine Official Publication Society of Nuclear Medicine,2012,53(53):59-71.
[44]Gordon E,Rohrer JD,Fox NC.Advances in neuroimaging in frontotemporal dementia[J].Journal of Neurochemistry,2016,138(s1):193.
[45]Tsai RM,Boxer AL.Therapy and clinical trials in frontotemporal dementia:past,present,and future[J].Journal of Neurochemistry,2016,138(s1):211-221.
[46]Ghetti B,Oblak AL,Boeve BF,et al.Invited review:Frontotemporal dementia caused by microtubule-associated protein tau gene(MAPT)mutations:a chameleon for neuropathology and neuroimaging[J].Neuropathology&Applied Neurobiology,2015,41(1):24.