原发性进行性失语的基因机制研究进展

doi:10.3969/j.issn.1006-9771.2020.11.010

Abstract

Abstract:

Primary progressive aphasia (PPA) is a common neurodegenerative speech disease. Earlier studies on PPA merely observed preliminary pathogenic factors at the brain level. Based on genetic technology, almost 20% to 30% patients with autosomal dominant inheritance reveals that this deficit is closely relevant to gene mutation. C9 gene mutation is the primary factor related to amyotrophic lateral sclerosis and frontotemporal dementia, which is attributed to the main causes of PPA. Repeating expansion of C9 gene may influence the expression of C9 gene, block the combination of RNA and protein, and destroy RNA function.

Key words: primary progressive aphasia, genetic language disorders, amplification of repetitive sequences of gene, review

CLC Number:

R742

FENG Shi-wen,LI Qian-nan,YANG Long,SHAO Ke-qing. Advance in Genetic Mechanism of Primary Progressive Aphasia (review)[J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2020, 26(11): 1305-1310.

References 57

[1]	Mesulam M M. Primary progressive aphasia: a 25-year retrospective[J]. Alzheimer Dis Assoc Disord, 2007, 21(4):S8-S11. doi: 10.1097/WAD.0b013e31815bf7e1
[2]	Westbury C, Bub D. Primary progressive aphasia: a review of 112 cases[J]. Brain Lang, 1997, 60(3):381-406. pmid: 9398390
[3]	Karbe H, Kertesz A, Polk M. Profiles of language impairment in primary progressive aphasia[J]. Arch Neurol, 1993, 50(2):193-201.
[4]	Mesulam M M. Primary progressive aphasia[J]. Ann Neurol, 2001, 49(4):425-432. pmid: 11310619
[5]	Gorno-Tempini M L, Dronkers N F, Rankin K P, et al. Cognition and anatomy in three variants of primary progressive aphasia[J]. Ann Neurol, 2004, 55(3):335-346. pmid: 14991811
[6]	Rabinovici G D, Jagust W J, Furst A J, et al. Aβ amyloid and glucose metabolism in three variants of primary progressive aphasia[J]. Ann Neurol, 2008, 64(4):388-401. doi: 10.1002/ana.21451 pmid: 18991338
[7]	Mummery C J, Patterson K, Price C J, et al. A voxel-based morphometry study of semantic dementia: relationship between temporal lobe atrophy and semantic memory[J]. Ann Neurol, 2000, 47(1):36-45. pmid: 10632099
[8]	Hillis A E. Lost for words[J]. Neurology, 2008, 71(16):1218-1219. doi: 10.1212/01.wnl.0000327100.41096.b3 pmid: 18768918
[9]	Bonakdarpour B, Hurley R S, Wang A R, et al. Perturbations of language network connectivity in primary progressive aphasia[J]. Cortex, 2019, 121:468-480. doi: S0010-9452(19)30298-9 pmid: 31530376
[10]	Seixas L B, Levine B, Graham N L, et al. Impaired coherence for semantic but not episodic autobiographical memory in semantic variant primary progressive aphasia[J]. Cortex, 2020, 123:72-85. doi: S0010-9452(19)30359-4 pmid: 31760339
[11]	Auclair-Ouellet N, Fossard M, Macoir J, et al. The nonverbal processing of actions is an area of relative strength in the semantic variant of primary progressive aphasia[J]. J Speech Lang Hear Res, 2020, 63(2):569-584. doi: 10.1044/2019_JSLHR-19-00271
[12]	Billette O V, Preiß D, Nestor P J. The concept of regularization: resolving the problem of surface dyslexia in semantic variant primary progressive aphasia across different languages[J]. Neuropsychology, 2020, 34(3):298-307. doi: 10.1037/neu0000611 pmid: 31868373
[13]	Duncan E S, Donovan N J, Sajjadi S A. Clinical assessment of characteristics of apraxia of speech in primary progressive aphasia[J]. Am J Speech Lang Pathol, 2020, 29(1S):485-497. doi: 10.1044/2019_AJSLP-CAC48-18-0225
[14]	de Aguiar V, Zhao Y, Faria A, et al. Brain volumes as predictors of tDCS effects in primary progressive aphasia[J]. Brain Lang, 2020, 200:104707. doi: S0093-934X(19)30323-2 pmid: 31704518
[15]	Faria A V, Meyer A, Friedman R, et al. Baseline MRI associates with later naming status in primary progressive aphasia[J]. Brain Lang, 2020, 201:104723. doi: 10.1016/j.bandl.2019.104723
[16]	汪洁, 吴东宇, 袁英, 等. 经颅直流电刺激对非流利型原发性进行性失语症语言功能的作用[J]. 中国康复医学杂志, 2015, 30(11):1112-1117.
	Wang J, Wu D Y, Yuan Y, et al. Effects of transcranial direct current stimulation on language improvement in non-fluent primary progressive aphasia[J]. Chin J Rehabil Med, 2015, 30(11):1112-1117.
[17]	邓静, 唐金华, 倪丽君. 经颅直流电刺激对非流利型原发性进行性失语症的治疗作用[J]. 中国听力语言康复科学杂志, 2017, 15(6):449-452.
	Deng J, Tang J H, Ni L J. Therapeutic effect of transcranial DC stimulation on non-fluent primary progressive aphasia[J]. Chin Sci J Hear Speech Rehabil, 2017, 15(6):449-452.
[18]	Andersen C, Dahl C, Almkvist O, et al. Bilateral temporal lobe volume reduction parallels cognitive impairment in progressive aphasia[J]. Arch Neurol, 1997, 54(10):1294-1299. doi: 10.1001/archneur.1997.00550220092020
[19]	Sonty S P, Mesulam M, Thompson C K, et al. Primary progressive aphasia: PPA and the language network[J]. Ann Neurol, 2003, 53(1):35-49. doi: 10.1002/(ISSN)1531-8249
[20]	Mummery C J, Patterson K, Wise R J, et al. Disrupted temporal lobe connections in semantic dementia[J]. Brain, 1999, 122(1):61-73. doi: 10.1093/brain/122.1.61
[21]	彭蓉, 袁光固, 汪颖, 等. 原发性进行性失语一例报道[J]. 中国临床心理学杂志, 1999, 7(3):173.
	Peng R, Yuan G G, Wang Y, et al. A case report of primary progressive aphasia[J]. Chi J Clin Psychol, 1999, 7(3):173.
[22]	陈彪, 马秋兰, 马云川, 等. 原发性进行性失语一例临床分析[J]. 中华神经科杂志, 2002, 35(3):162-164.
	Chen B, Ma Q L, Ma Y C, et al. Primary progressive aphasia: a case analysis[J]. Chin J Neurol, 2002, 35(3):162-164.
[23]	尹得菊, 张莹, 程焱, 等. 寡语型原发性进行性失语的语言损害特点及其机制[J]. 中华老年心脑血管病杂志, 2018, 20(9):1000-1002.
	Yin D J, Zhang Y, Cheng Y, et al. Features and mechanism of language impairment of primary progressive aphasia[J]. Chin J Geriatr Heart Brain Vessel Dis, 2018, 20(9):1000-1002.
[24]	刘替红, 田玉玲, 赵娅蓉, 等. 原发性进行性失语病人语言学量表及影像学特点分析[J]. 中西医结合心脑血管病杂志, 2018, 16(7):983-986.
	Liu T H, Tian Y L, Zhao Y R, et al. Analysis of linguistic scale and imaging features of primary progressive aphasia[J]. Chin J Integr Med Cardiovasc Dis, 2018, 16(7):983-986.
[25]	周统权, 侯小燕, 周思若. 走进原发性进行性失语症[J]. 北京第二外国语学院学报, 2017, 39(1):30-44, 129.
	Zhou T Q, Hou X Y, Zhou S R. An access to primary progressive aphasia[J]. J Beijing Int Stud Univ, 2017, 39(1):30-44, 129.
[26]	赵伟杰, 曹云鹏. 原发性进行性失语语言学的量表诊断[J]. 国际神经病学·神经外科学杂志, 2016, 43(5):467-470.
	Zhao W J, Cao Y P. Linguistics scale diagnosis of primary progressive aphasia[J]. J Int Neurol Neurosurg, 2016, 43(5):467-470.
[27]	赵伟杰, 曹云鹏, 尹文超, 等. 不同量表对原发性进行性失语亚型的语言学分析[J]. 脑与神经疾病杂志, 2016, 24(8):463-468.
	Zhao W J, Cao Y P, Yin W C, et al. The linguistic analysis of the subtypes of primary progressive aphasia with different scales[J]. J Brain Nerv Dis, 2016, 24(8):463-468.
[28]	顾诗渊, 李琦, 陈翔骏. 原发性进行性非流利性失语的研究进展[J]. 卒中与神经疾病, 2014, 21(5):316-318.
	Gu S Y, Li Q, Chen X J. Advances in the study on the non-fluent/agrammatic variant of primary progressive aphasia[J]. Stroke Nerv Dis, 2014, 21(5):316-318.
[29]	Snowden J S, Neary D, Mann D M A. Fronto-temporal Lobar Degeneration: Fronto-temporal Dementia, Progressive Aphasia, Semantic Dementia[M]. New York: Churchill Livingston, 1996.
[30]	Hurst J A, Baraitser M, Auger E, et al. An extended family with a dominantly inherited speech disorder[J]. Dev Med Child Neurol, 1990, 32(4):352-355. doi: 10.1111/j.1469-8749.1990.tb16948.x
[31]	Fisher S E, Vargha-Khadem F, Watkins K E, et al. Localisation of a gene implicated in a severe speech and language disorder[J]. Nat Genet, 1998, 18(2):168-170. pmid: 9462748
[32]	Lai C S, Fisher S E, Hurst J A, et al. A forkhead-domain gene is mutated in a severe speech and language disorder[J]. Nature, 2001, 413(6855):519-523. pmid: 11586359
[33]	Vargha-Khadem F, Gadian D G, Copp A, et al. FOXP2 and the neuroanatomy of speech and language[J]. Nat Rev Neurosci, 2005, 6(2):131-138. pmid: 15685218
[34]	Enard W, Przeworski M, Fisher S E, et al. Molecular evolution of FOXP2, a gene involved in speech and language[J]. Nature, 2002, 418(6900):869-872. doi: 10.1038/nature01025
[35]	Konopka G, Bomar J M, Winden K, et al. Human-specific transcriptional regulation of CNS development genes by FOXP2[J]. Nature, 2009, 462(7270):213-217. doi: 10.1038/nature08549
[36]	Enard W, Gehre S, Hammerschmidt K, et al. A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice[J]. Cell, 2009, 137(5):961-971. doi: 10.1016/j.cell.2009.03.041
[37]	Premi E, Pilotto A, Alberici A, et al. FOXP2, APOE, and PRNP: new modulators in primary progressive aphasia[J]. J Alzheimers Dis, 2012, 28(4):941-950. doi: 10.3233/JAD-2011-111541
[38]	Rohrer J D, Guerreiro R, Vandrovcova J, et al. The heritability and genetics of frontotemporal lobar degeneration[J]. Neurology, 2009, 73(18):1451-1456. doi: 10.1212/WNL.0b013e3181bf997a pmid: 19884572
[39]	Sieben A, Van Langenhove T, Engelborghs S, et al. The genetics and neuropathology of frontotemporal lobar degeneration[J]. Acta Neuropathol, 2012, 124(3):353-372. doi: 10.1007/s00401-012-1029-x pmid: 22890575
[40]	Snowden J S, Pickering-Brown S M, Mackenzie I R, et al. Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia[J]. Brain, 2006, 129(11):3091-3102. doi: 10.1093/brain/awl267
[41]	Baker M, Mackenzie I R, Pickering-Brown S M, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17[J]. Nature, 2006, 442(7105):916-919. pmid: 16862116
[42]	Cruts M, Gijselinck I, van der Zee J, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21[J]. Nature, 2006, 442(7105):920-924. pmid: 16862115
[43]	Van Swieten J C, Heutink P. Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia[J]. Lancet Neurol, 2008, 7(10):965-974. doi: 10.1016/S1474-4422(08)70194-7 pmid: 18771956
[44]	Caso F, Villa C, Fenoglio C, et al. The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype[J]. J Alzheimers Dis, 2012, 28(4):759-763. doi: 10.3233/JAD-2011-111544
[45]	Ramos E M, Dokuru D R, Van Berlo V, et al. Genetic screen in a large series of patients with primary progressive aphasia[J]. Alzheimers Dement, 2019, 15(4):553-560. doi: 10.1016/j.jalz.2018.10.009
[46]	Cruchaga C, Fernández-Seara M A, Seijo-Martínez M, et al. Cortical atrophy and language network reorganization associated with a novel progranulin mutation[J]. Cerebral Cortex, 2009, 19(8):1751-1760. doi: 10.1093/cercor/bhn202
[47]	Majounie E, Renton A E, Mok K, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study[J]. Lancet Neurol, 2012, 11(4):323-330. doi: 10.1016/S1474-4422(12)70043-1 pmid: 22406228
[48]	DeJesus-Hernandez M, Mackenzie I R, Boeve B F, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS[J]. Neuron, 2011, 72(2):245-256. doi: 10.1016/j.neuron.2011.09.011 pmid: 21944778
[49]	Renton A E, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD[J]. Neuron, 2011, 72(2):257-268. doi: 10.1016/j.neuron.2011.09.010 pmid: 21944779
[50]	Orr H T. FTD and ALS: genetic ties that bind[J]. Neuron, 2011, 72(2):189-190. doi: 10.1016/j.neuron.2011.10.001
[51]	Haeusler A R, Donnelly C J, Periz G, et al. C9orf72 nucleotide repeat structures initiate molecular cascades of disease[J]. Nature, 2014, 507(7491):195-200. doi: 10.1038/nature13124 pmid: 24598541
[52]	Zhou B, Liu C, Geng Y, et al. Topology of a G-quadruplex DNA formed by C9orf72 hexanucleotide repeats associated with ALS and FTD[J]. Sci Rep, 2015, 5:16673. doi: 10.1038/srep16673 pmid: 26564809
[53]	Mori K, Weng S M, Arzberger T, et al. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS[J]. Science, 2013, 339(6125):1335-1338. doi: 10.1126/science.1232927
[54]	Xu Z, Poidevin M, Li X, et al. Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration[J]. Proc Natl Acad Sci USA, 2013, 110(19):7778-7783. doi: 10.1073/pnas.1219643110
[55]	Bonham L W, Steele N Z R, Karch C M, et al. Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia[J]. Sci Rep, 2019, 9(1):10854. doi: 10.1038/s41598-019-46415-1 pmid: 31350420
[56]	Whitwell J L, Weigand S D, Boeve B F, et al. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics[J]. Brain, 2012, 135(3):794-806. doi: 10.1093/brain/aws001
[57]	Zhang K, Donnelly C J, Haeusler A R, et al. The C9orf72 repeat expansion disrupts nucleocytoplasmic transport[J]. Nature, 2015, 525(7567):56-61. doi: 10.1038/nature14973 pmid: 26308891

Advance in Genetic Mechanism of Primary Progressive Aphasia (review)

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