ライフサイエンスコーパス: FTLD

1 FTLD-Tau neurons showed dysregulation of the augmentatio

2 degenerative diseases (AD p<0.05, PD p<0.01, FTLD p<0.0001) except CJD.

3 10; corticobasal degeneration [CBD], n = 10; FTLD-TDP, n = 3; and Pick disease, n = 1).

4 In an autopsy cohort of PPA (FTLD-TDP = 13, FTLD-Tau = 14), we analyzed laterality and regional dist

5 rom blood of 34 FTLD expansion carriers, 166 FTLD non-carriers and 103 controls.

6 sequencing of DNA obtained from blood of 34 FTLD expansion carriers, 166 FTLD non-carriers and 103 c

7 ated with FTD pathological subtypes: TDP-43 (FTLD-TDP) and tau (FTLD-tau).

8 ontotemporal lobar degeneration with TDP-43 (FTLD-TDP).

9 at autopsy than those patients with TDP-43 (FTLD-TDP).

10 emporal dementia [ALS-FTD], and FTLD-TDP-43 [FTLD-TDP]) with data from patients with non-TDP-related

11 A-binding protein (TDP) inclusions in 40.5%, FTLD-tau in 40.5%, and Alzheimer disease (AD) pathology

12 Our cohort consisted of 68.6% FTLD donors (35.3% TDP-43, 28% tau, and 5.3% FUS) and 31

13 ide repeat expansions in a population of 651 FTLD patients and compared the clinical characteristics

14 icroglia and neuropathology in FTLD-TDP (A), FTLD-TDP (C), and FTLD-Pick's.

15 Flortaucipir uptake patterns differed across FTLD pathologies and could separate PSP and CBD.

16 suggest common pathogenic mechanisms in ALS, FTLD, and AxD, and this is the first report of TDP-43 in

17 both C9orf72 positive and negative ALS, ALS/FTLD, and FTLD cases, was used to validate the levels of

18 phoblasts was found in sporadic FTLD and ALS/FTLD patients with normal-size or expanded hexanucleotid

19 rich DPRs in the pathogenesis of C9orf72 ALS/FTLD.

20 increased RNA polymerase II activity in ALS/FTLD may lead to increased repetitive element transcript

21 f these TDP-43 functions are affected in ALS/FTLD pathogenesis is not clear.

22 served changes in repetitive elements in ALS/FTLD.

23 e its physiological function and role in ALS/FTLD.

24 a contributing factor in the spectrum of ALS/FTLD neurodegenerative disorders.

25 homeostasis constitute a cornerstone of ALS/FTLD pathogenesis.

26 ression, a novel pathological feature of ALS/FTLD.

27 may have relevance to pathophysiology of ALS/FTLD.

28 Here, we demonstrate that ALS/FTLD-linked FUS mutations in glycine (G) strikingly driv

29 that its oligomerization contributes to ALS/FTLD RNA-binding protein aggregation.

30 Over 70 mutations in Fus are linked to ALS/FTLD.

31 isparate molecular mechanisms underlying ALS/FTLD pathogenesis and differing recovery potential depen

32 Grn-KO mice were developed as an FTLD model, but lack cortical TDP-43 mislocalization and

33 , standard error [SE] = 0.05, p = 0.007) and FTLD-Tau (beta = -0.09, SE = 0.04, p = 0.015), but the d

34 a significant difference between the AD and FTLD groups, nor between the TDP-43 and tau pathology gr

35 eparate validation cohort of sporadic AD and FTLD patients.

36 ld successfully differentiate between AD and FTLD spectrum disorders with 83% accuracy.

37 this compound with tau pathologies in AD and FTLD.

38 Analysis of the combined ALS and FTLD datasets (82 expansion carriers) revealed that the

39 To explore the role of RBM45 in ALS and FTLD, we examined the contribution of the protein's doma

40 Here we show that ALS and FTLD-associated TDP-43 mutations in the central nucleic

41 In ALS and FTLD-TDP, TDP-43 becomes insoluble, ubiquitinated, and p

42 ole of TDP-25 in the pathogenesis of ALS and FTLD-TDP, we generated TDP-25 homozygous mice (TgTDP-25(

43 ole of TDP-25 in the pathogenesis of ALS and FTLD-TDP.

44 that have been associated with both ALS and FTLD-TDP.

45 resemble pathological inclusions in ALS and FTLD-TDP.

46 a promising therapeutic strategy for ALS and FTLD-TDP.

47 rently equally to the pathologies of ALS and FTLD-U.

48 ic inclusions in neurons and glia in ALS and FTLD.

49 inical information for patients with ALS and FTLD.

50 pathology in FTLD-TDP (A), FTLD-TDP (C), and FTLD-Pick's.

51 gression whereas the Alzheimer's disease and FTLD-tau groups did not differ from each other in either

52 , ALS-frontotemporal dementia [ALS-FTD], and FTLD-TDP-43 [FTLD-TDP]) with data from patients with non

53 f72 positive and negative ALS, ALS/FTLD, and FTLD cases, was used to validate the levels of several r

54 lated tau were seen in both the AD group and FTLD group compared with controls.

55 the forebrain of transgenic TDP-43 mice and FTLD-TDP patients.

56 clude that in most cases, severe LATE-NC and FTLD-TDP can be differentiated by applying simple neurop

57 an underlying disease mechanism for NCL and FTLD due to GRN mutations.

58 d 92.7% accuracy to distinguish FTLD-tau and FTLD-TDP pathologies across variants.

59 gnostic features was similar in FTLD-tau and FTLD-TDP, suggesting that these features alone cannot be

60 In PPA, FTLD-TDP and FTLD-Tau have divergent anatomic distributions of left-l

61 stinguish between patients with FTLD-TDP and FTLD-tau.

62 ral lobar degeneration (FTLD), designated as FTLD-TDP.

63 C9orf72 -associated FTLD most often presents with early-onset behavioral var

64 A TMEM106B variant modifies GRN-associated FTLD risk.

65 arkers in the differential diagnosis between FTLD, Alzheimer's disease (AD) and healthy ageing; their

66 ed a high accuracy in discriminating between FTLD and healthy controls (area under the curve (AUC): 0

67 Patients with FTLD were distributed between FTLD-tau (34 10 corticobasal degeneration, nine progress

68 o compare neuropathological findings between FTLD-TDP and pathologically severe LATE-NC.

69 rent properties of TDP-43 inclusions between FTLD-TDP and HS.

70 However, the link between FTLD and methylation of the CpG-island is unknown.

71 Both FTLD groups had lower levels of sAPPbeta, higher levels

72 tical pathology was left-lateralized in both FTLD-TDP (beta = -0.15, standard error [SE] = 0.05, p =

73 Hallmarks of both FTLD and ALS are the toxic cytoplasmic inclusions of the

74 tal glutamate and GABA levels are reduced by FTLD in vivo, and that their deficit is associated with

75 arietal regions for C9P FTLD relative to C9N FTLD, and regression analysis related verbal fluency sco

76 ellum and bilateral parietal regions for C9P FTLD relative to C9N FTLD, and regression analysis relat

77 Certain FTLD syndromes are associated with impaired flavour iden

78 Patients had autopsy-confirmed FTLD with tauopathy (n = 31), TDP-43 proteinopathy (n =

79 as a potential treatment for PGRN-deficient FTLD and AD.

80 as a new phenotype in progranulin-deficient FTLD, and suggest a pathological loop involving reciproc

81 hology in frontotemporal lobar degeneration (FTLD) and (2) tauopathy patients have higher phosphoryla

82 including frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS).

83 cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS).

84 familial frontotemporal lobar degeneration (FTLD) and modulates an innate immune response in humans

85 leads to frontotemporal lobar degeneration (FTLD) and nullizygosity produces adult-onset neuronal ce

86 ated with frontotemporal lobar degeneration (FTLD) in clinical series.

87 n 45% and frontotemporal lobar degeneration (FTLD) in the others, with an approximately equal split b

88 ortion of frontotemporal lobar degeneration (FTLD) is due to inherited gene mutations, and we are una

89 forms of frontotemporal lobar degeneration (FTLD) or Alzheimer disease (AD).

90 th likely frontotemporal lobar degeneration (FTLD) pathology (n=45).

91 ection of frontotemporal lobar degeneration (FTLD) tau inclusions has been unsuccessful.

92 ated with frontotemporal lobar degeneration (FTLD) with longTAR DNA-binding protein (TDP)-43-positive

93 ically as frontotemporal lobar degeneration (FTLD) with TAR DNA-binding protein of 43 kDa (TDP-43) pa

94 ase (AD), frontotemporal lobar degeneration (FTLD) with tau pathology (FTLD-tau), and related disorde

95 ated with frontotemporal lobar degeneration (FTLD) with transactive response DNA-binding protein (TDP

96 (ALS) and frontotemporal lobar degeneration (FTLD) with ubiquitinated inclusions.

97 gnosis of frontotemporal lobar degeneration (FTLD), 15 with Alzheimer's disease, and four with amyotr

98 ase (PD), frontotemporal lobar degeneration (FTLD), and amyotrophic lateral sclerosis (ALS).

99 ne causes frontotemporal lobar degeneration (FTLD), and complete loss of PGRN leads to a lysosomal st

100 ted with fronto-temporal lobar degeneration (FTLD), and missense mutations in the FUS gene have been

101 s (DCo)), frontotemporal lobar degeneration (FTLD), Creutzfeldt-Jakob disease (CJD), Alzheimer's dise

102 ly 50% of frontotemporal lobar degeneration (FTLD), designated as FTLD-TDP.

103 a, termed frontotemporal lobar degeneration (FTLD), is characterized by distinct molecular classes of

104 forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying patholog

105 leads to frontotemporal lobar degeneration (FTLD), the second leading cause of dementia.

106 ated with frontotemporal lobar degeneration (FTLD)--and several primary psychiatric disorders.

107 s such as frontotemporal lobar degeneration (FTLD)-TDP are made of high-molecular-weight aggregates o

108 ALS) and fronto-temporal lobar degeneration (FTLD).

109 including frontotemporal lobar degeneration (FTLD).

110 n lead to frontotemporal lobar degeneration (FTLD).

111 (ALS) and frontotemporal lobar degeneration (FTLD).

112 (ALS) and frontotemporal lobar degeneration (FTLD).

113 (ALS) and frontotemporal lobar degeneration (FTLD).

114 (ALS) and frontotemporal lobar degeneration (FTLD).

115 including frontotemporal lobar degeneration (FTLD).

116 osed with frontotemporal lobar degeneration (FTLD).

117 ortant in frontotemporal lobar degeneration (FTLD).

118 dying of frontotemporal lobar degeneration (FTLD).

119 ated with frontotemporal lobar degeneration (FTLD).

120 ectrum of frontotemporal lobar degeneration (FTLD).

121 (ALS) and frontotemporal lobar degeneration (FTLD).

122 ents with frontotemporal lobar degeneration (FTLD-tau), a disease second to Alzheimer's as a cause of

123 including frontotemporal lobar degeneration (FTLD-TDP) and amyotrophic lateral sclerosis (ALS).

124 (ALS) and frontotemporal lobar degeneration (FTLD-TDP) are two neurodegenerative disorders characteri

125 (ALS) and frontotemporal lobar degeneration (FTLD-TDP).

126 cause of frontotemporal lobar degeneration (FTLD-TDP).

127 ALS and frontotemporal lobular degeneration (FTLD) patients' brains and spinal cords.

128 urrently with frontotemporal lobal dementia (FTLD).

129 es, including frontotemporal lobar dementia (FTLD) and amyotrophic lateral sclerosis (ALS), are chara

130 uffering from frontotemporal lobar dementia (FTLD) with ubiquitinated inclusion bodies show TDP-43 pa

131 sis (ALS) and Frontotemporal Lobar Dementia (FTLD).

132 sis (ALS) and frontotemporal lobar dementia (FTLD).

133 ce with reduced PSAP expression demonstrated FTLD-like pathology and behavioural changes.

134 C9orf72 expansion carriers developed FTLD at an early age (average, 55.3 years; range, 42-69

135 EM106B variants increase risk for developing FTLD-TDP by increasing expression of Transmembrane Prote

136 In different FTLD subtypes, neurofilament light chain (NfL) is a prom

137 phenotype correlations between the different FTLD syndromes and different genetic causes, we propose

138 et of criteria hypothesized to differentiate FTLD-TDP from LATE-NC was generated based on density of

139 181) showed high accuracy in differentiating FTLD from patients with AD (AUC: 0.93, p<0.001).

140 70; 95% CI 0.61 to 0.79) and to discriminate FTLD-Tau from FTLD-TDP (AUC 0.67; 95% CI 0.51 to 0.82).

141 including eight with motor neuron disease), FTLD-FUS (eight patients), and one patient with FTLD-ubi

142 opathy, and one argyrophilic grain disease); FTLD-TDP (55 nine type A including one with motor neuron

143 om controls, but lower values to distinguish FTLD from AD (AUC 0.70; 95% CI 0.61 to 0.79) and to disc

144 nalysis showed 92.7% accuracy to distinguish FTLD-tau and FTLD-TDP pathologies across variants.

145 lvania with pathological diagnoses of either FTLD-TDP (n = 33) or severe LATE-NC (mostly stage 3) wit

146 ases from University of Kentucky with either FTLD-TDP (n = 8) or with relatively 'pure' severe LATE-N

147 duced aneuploidy and apoptosis, we expressed FTLD-causing mutant forms of MAPT in karyotypically norm

148 from MAPT mutant transgenic mice expressing FTLD mutant human MAPT.

149 levels, are a significant cause of familial FTLD-TDP.

150 enuated PGRN function could lead to familial FTLD or ALS.

151 nt in FTLD-TDP and were most conspicuous for FTLD-TDP type C, the subtype seen in most patients with

152 Autopsy-confirmed samples are critical for FTLD biomarker development and validation.

153 l- and clinic-based cohorts are enriched for FTLD-TDP cases, whereas community-based cohorts have mor

154 ere recently discovered as a risk factor for FTLD-U, especially in patients with PGRN mutations.

155 -wide association to confer genetic risk for FTLD-TDP (p = 1 x 10(-)(11), OR = 1.6).

156 mer pathology and of the agrammatic type for FTLD-tau.

157 induced direct neuronal differentiation from FTLD-Tau patient iPSCs.

158 icity of differentiating severe LATE-NC from FTLD-TDP cases with blind evaluation was ~90%.

159 he criteria for differentiating LATE-NC from FTLD-TDP was effective, with sensitivity and specificity

160 deficient in PGRN and in human samples from FTLD patients due to GRN mutations.

161 1 to 0.79) and to discriminate FTLD-Tau from FTLD-TDP (AUC 0.67; 95% CI 0.51 to 0.82).

162 g in patients clinically diagnosed as having FTLD.

163 ronal cells in vitro, it remains unclear how FTLD-Tau patient neurons degenerate.

164 In FTLD, serum NfL levels correlated with measures of cogni

165 In FTLD-TDP brains, TDP-43 is phosphorylated, C-terminally

166 ontributes to mitochondrial abnormalities in FTLD-TDP and suggest that CHCHD10 restoration could amel

167 ively associated with cerebral tau burden in FTLD.

168 that neuropsychiatric features are common in FTLD and form an important indicator of underlying patho

169 Clinicopathological correlations in FTLD are subsequently discussed, while emphasising that

170 is post-mortem evidence of their deficit in FTLD.

171 ls similar to the TDP-43 fibrils detected in FTLD-TDP brain tissues.

172 ould ameliorate mitochondrial dysfunction in FTLD-TDP.

173 Furthermore, in FTLD GRN+ patients an increased compensative connectivit

174 ethylation level was significantly higher in FTLD expansion carriers than non-carriers (P = 7.8E-13).

175 ed 208 TDP-43 CTF), previously identified in FTLD-TDP brains.

176 ermore, TMEM106B and C9orf72 may interact in FTLD-TDP pathophysiology.

177 l of these also raised progranulin levels in FTLD model mouse neurons.

178 001), and in left midfrontal cortex (MFC) in FTLD-Tau, which was greater than in FTLD-TDP (F = 19.34,

179 her aneuploidy leads to neurodegeneration in FTLD, we measured aneuploidy and apoptosis in brain cell

180 densities of microglia and neuropathology in FTLD-TDP (A), FTLD-TDP (C), and FTLD-Pick's.

181 hology in left orbitofrontal cortex (OFC) in FTLD-TDP, which was greater than in FTLD-Tau (F = 47.07,

182 ls with postmortem cerebral tau pathology in FTLD (Beta = 1.3; 95% confidence interval = 0.2-2.4; p <

183 a new strategy to alleviate tau pathology in FTLD and related tauopathies.

184 tivity to detect mild Alzheimer pathology in FTLD.

185 ndings reveal a neurodegenerative pathway in FTLD-MAPT in which neurons and glia exhibit mitotic spin

186 clusions staining with TDP-O were present in FTLD-TDP and were most conspicuous for FTLD-TDP type C,

187 r ability to predict survival probability in FTLD.

188 rbations in RNA metabolism and processing in FTLD-TDP are not exclusively driven by a loss of TDP-43

189 ore bvFTD diagnostic features was similar in FTLD-tau and FTLD-TDP, suggesting that these features al

190 reduces tau-laden neurofibrillary tangles in FTLD mice in vivo.

191 (OFC) in FTLD-TDP, which was greater than in FTLD-Tau (F = 47.07, df = 1,17, p < 0.001), and in left

192 (MFC) in FTLD-Tau, which was greater than in FTLD-TDP (F = 19.34, df = 1,16, p < 0.001).

193 l lobar degeneration with TDP-43 inclusions (FTLD-TDP) is an important cause of dementia in individua

194 egeneration with TDP-43-positive inclusions (FTLD-TDP), as well as an increasing spectrum of other ne

195 al dementia with TDP-43-positive inclusions (FTLD-TDP), indicating that perturbations in RNA metaboli

196 neration with ubiquitin positive inclusions (FTLD-U) are two clinically distinct neurodegenerative co

197 neration with ubiquitin-positive inclusions (FTLD-U).

198 uitin proteasome system positive inclusions (FTLD-UPS) that stained negatively for tau, TDP-43, and F

199 Patients with tau inclusions (FTLD-TAU) appear to have relatively greater white matter

200 ve response DNA-binding protein with 43 kDa (FTLD-TDP) (n=25) or Alzheimer's disease (AD, n=97).

201 phasia or word comprehension impairment made FTLD-tau unlikely.

202 (WT, R15L, & S59L), TDP-43 transgenic mice, FTLD-TDP patient brains, and transfected cells to assess

203 TDP-43, 28% tau, and 5.3% FUS) and 31.3% non-FTLD donors with a clinical diagnosis of frontotemporal

204 ampal sclerosis (HS), which represents a non-FTLD pathology with TDP-43 inclusions.

205 o the regional distribution of TDP-43 in non-FTLD subjects.

206 tional grey matter volume in a cohort of non-FTLD subjects.

207 hyperorality points to FTLD rather than non-FTLD pathology (p < 0.001).

208 Seventy-nine per cent of FTLD-tau, 86% of FTLD-TDP, and 88% of FTLD-FUS met at least 'possible' bv

209 ent of FTLD-tau, 86% of FTLD-TDP, and 88% of FTLD-FUS met at least 'possible' bvFTD diagnostic criter

210 lexes are significantly reduced in brains of FTLD-TDP patients and TDP-43 transgenic mice.

211 ansions are the most common genetic cause of FTLD and MND identified to date.

212 at expansion in C9ORF72 is a common cause of FTLD and often presents with late-onset psychosis or mem

213 des a recently discovered inherited cause of FTLD.

214 Seventy-nine per cent of FTLD-tau, 86% of FTLD-TDP, and 88% of FTLD-FUS met at le

215 P-43 accumulations allowed classification of FTLD cases into at least four subtypes, which are correl

216 similarly increased in the frontal cortex of FTLD-TDP patients, suggesting aberrant expression in smo

217 psy and had a neuropathological diagnosis of FTLD-Tau (n=24), transactive response DNA-binding protei

218 sessed patients with a clinical diagnosis of FTLD.

219 ding FTLD, including the recent discovery of FTLD-causative genetic mutations.

220 s of FTD are dictated by the distribution of FTLD pathology in the brain.

221 hat were correlated with disease duration of FTLD subjects.

222 known as TDP-25, is a consistent feature of FTLD-TDP and ALS; however, little is known about its rol

223 The majority of FTLD-TDP cases are due to loss of function mutations in

224 rker and so the quest for in vivo markers of FTLD-tau pathology continues.

225 Cell and mouse models of FTLD showed this to be maladaptive, fueling a positive f

226 Here, we established neuronal models of FTLD-Tau by Neurogenin2-induced direct neuronal differen

227 role for TDP-43 CTFs in the pathogenesis of FTLD-TDP and related TDP-43 proteinopathies.

228 tification of diverse clinical phenotypes of FTLD on a neuropathological basis.

229 cilitated the investigation of phenotypes of FTLD-Tau patient neuronal cells in vitro, it remains unc

230 n FUS and SFPQ in neurons of a wide range of FTLD spectrum diseases', by Ishigaki etal.

231 and age at death in the Mendelian subgoup of FTLD-TDP due to expansions of the C9orf72 gene.

232 he progressive supranuclear palsy subtype of FTLD-tau consistently caused prominent speech abnormalit

233 TDP-43 oligomers among different subtypes of FTLD-TDP as well as in hippocampal sclerosis (HS), which

234 In the brain tissue of FTLD-TDP patients with PGRN deficiency, CTSD and phospho

235 th progressive supranuclear palsy, a type of FTLD-tau.

236 sychiatric disorders, and the limited use of FTLD-related biomarkers by psychiatrists at present, it

237 is of either AD (PPA-AD) or a tau variant of FTLD (PPA-FTLD) and 6 patients who had the clinical diag

238 Tau(181) may provide a comprehensive view of FTLD, aiding in the differential diagnosis, in staging d

239 suggest that TMEM106B exerts its effects on FTLD-TDP disease risk through alterations in lysosomal p

240 allele from the father (unaffected by ALS or FTLD at age 89 years) expanded during parent-offspring t

241 t help explain the high frequency of ALS- or FTLD-affected individuals with an expansion but without

242 genetic mutation consistent with FTLD-TDP or FTLD-TAU underwent multimodal T1 volumetric MRI and diff

243 al lobar degeneration with TDP-43 pathology (FTLD-TDP), and are considered a major risk factor for th

244 inding protein of 43 kDa (TDP-43) pathology (FTLD-TDP).

245 obar degeneration (FTLD) with tau pathology (FTLD-tau), and related disorders.

246 In an autopsy cohort of PPA (FTLD-TDP = 13, FTLD-Tau = 14), we analyzed laterality an

247 In PPA, FTLD-TDP and FTLD-Tau have divergent anatomic distributi

248 er AD (PPA-AD) or a tau variant of FTLD (PPA-FTLD) and 6 patients who had the clinical diagnosis of a

249 The PPA-FTLD (n = 6), PPA-AD (n = 7), and AMN-AD (n = 6) groups

250 The PPA-FTLD group had normal (ie, near-ceiling) scores on all v

251 3 [5.2]), which were not observed in the PPA-FTLD or PPA-AD groups (all P < .005).

252 The group of pure FTLD-Tau (without AD copathology) showed higher levels o

253 igher levels of YKL-40 than AD and than pure FTLD-TDP.

254 ing the current state of knowledge regarding FTLD, including the recent discovery of FTLD-causative g

255 poral regions is the hallmark of GRN-related FTLD.

256 malizes lysosomal protein levels and rescues FTLD-related behavioral abnormalities and retinal degene

257 n progranulin-deficient neurons and reversed FTLD phenotypes.

258 vels by targeting genetic modifiers reversed FTLD functional deficits, opening up potential opportuni

259 TLD-TDP type C, 22 of 25 (88%) nfvPPA showed FTLD-tau, and all 11 lvPPA had AD.

260 pical pathology; 24 of 29 (83%) svPPA showed FTLD-TDP type C, 22 of 25 (88%) nfvPPA showed FTLD-tau,

261 sociated tau pathology accompanying sporadic FTLD, we found lower CSF phosphorylated tau levels in th

262 brain and lymphoblasts was found in sporadic FTLD and ALS/FTLD patients with normal-size or expanded

263 vivo detection of AD copathology in sporadic FTLD patients may help stratify clinical cohorts with pu

264 nding target(s) of FTP in cases of suspected FTLD-TDP neuropathology.

265 logical subtypes: TDP-43 (FTLD-TDP) and tau (FTLD-tau).

266 frontotemporal lobar degeneration tauopathy (FTLD-Tau), which presents with dementia and is character

267 We found that FTLD-Tau neurons, either with an intronic MAPT mutation

268 The FTLD group was then subgrouped based on their underlying

269 The FTLD-TAR DNA binding protein 43 group had the youngest o

270 nce did not differ significantly between the FTLD syndromic subgroups.

271 Mean onset age was under 65 in the FTLD as well as Alzheimer's disease groups.

272 Within the FTLD group, hallucinations in the initial years of the d

273 This FTLD-Tau model provides mechanistic insights into tauopa

274 cits of flavour identification and all three FTLD subgroups showed deficits of odour identification.

275 dules called granulins (GRNs) contributes to FTLD and ALS progression, with specific GRNs exacerbatin

276 nulin (PGRN) protein, are strongly linked to FTLD and ALS.

277 The presence of hyperorality points to FTLD rather than non-FTLD pathology (p < 0.001).

278 vels and identify potential targets to treat FTLD and other neurodegenerative diseases, including AD.

279 cific, but not syndrome-specific (ALS versus FTLD).

280 useful in particular clinical settings when FTLD is suspected.

281 bnormality together with agrammatism whereas FTLD-TAR DNA binding protein 43 of type C consistently l

282 yed retrieval of verbal information, whereas FTLD-tau pathology did not.

283 Here we examine whether FTLD-causing mutations in human MAPT induce aneuploidy a

284 participants with a syndrome associated with FTLD (15 patients with behavioural variant frontotempora

285 he neurotransmitter deficits associated with FTLD, thereby improving behaviour.

286 ta and high YKL-40 in CSF is associated with FTLD.

287 Also across both cohorts, cases with FTLD-TDP died younger than those with LATE-NC (P < 0.000

288 isease or a genetic mutation consistent with FTLD-TDP or FTLD-TAU underwent multimodal T1 volumetric

289 had [(18) F]-flortaucipir-PET and died with FTLD (progressive supranuclear palsy [PSP], n = 10; cort

290 D-FUS (eight patients), and one patient with FTLD-ubiquitin proteasome system positive inclusions (FT

291 higher levels of serum NfL in patients with FTLD syndromes, compared with healthy controls, and lowe

292 Patients with FTLD were distributed between FTLD-tau (34 10 corticobas

293 an in GRN mutation carriers or patients with FTLD without mutation.

294 ell as post-mortem tissue from patients with FTLD-PGRN, we show that PGRN haploinsufficiency results

295 ability to distinguish between patients with FTLD-TDP and FTLD-tau.

296 frontal cortex of a cohort of patients with FTLD-TDP but not in controls or patients with progressiv

297 Further, in patients with FTLD-TDP, we observed significant associations of trunca

298 ologically confirmed cohort of patients with FTLD.

299 the in vivo reactivity of (18)F-PM-PBB3 with FTLD tau inclusion was strongly supported by neuropathol

300 I 0.86 to 0.96) to distinguish subjects with FTLD from controls, but lower values to distinguish FTLD

301 Within FTLD-tau, 4R-tau pathology was commonly associated with