ライフサイエンスコーパス: FTLD

1 FTLD is characterized by progressive alteration in cogni

2 FTLD-TAU had significantly more WM degeneration and incl

3 FTLD-Tau neurons showed dysregulation of the augmentatio

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

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

6 ogical assessment from 64 C9P cases (ALS=31, FTLD=33) and 79 C9N cases (ALS=36, FTLD=43).

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

8 (ALS=31, FTLD=33) and 79 C9N cases (ALS=36, FTLD=43).

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

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

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

12 ermidine, carbamazepine, and tamoxifen) in a FTLD-U mouse model with TDP-43 proteinopathies.

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

14 tected in the majority of patients with ALS, FTLD and AD.

15 erlap in TDP-43 pathology between AD and ALS-FTLD and suggest that Abeta triggers modifications of TD

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

17 n and lymphoblasts derived from FTLD and ALS/FTLD patients and in zebrafish.

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 e its physiological function and role in ALS/FTLD.

23 served changes in repetitive elements 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 may have relevance to pathophysiology of ALS/FTLD.

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

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

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

30 Thus, TMEM106B is an FTLD-TDP risk gene, with microRNA-132/212 depression as

31 was further validated on the extended AD and FTLD cohort across 12 regions of interest (R = 0.91 +/-

32 eparate validation cohort of sporadic AD and FTLD patients.

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

34 Hence, ALS and FTLD converge in pathogenic pathways disrupting the regu

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

36 convergence of molecular pathways in ALS and FTLD involving RNA metabolism.

37 ing proteins that form aggregates in ALS and FTLD, and when mutated can drive the pathogenesis of the

38 gene encoding TDP-43 associated with ALS and FTLD, but this protein is also a major constituent of pa

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

40 mally aggregated and mislocalized in ALS and FTLD, while the expansion in the C9orf72 pre-mRNA strong

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

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

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

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

48 n candidate, has been connected with ALS and FTLD-U.

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

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

51 inical information for patients with ALS and FTLD.

52 g pathogenic mechanisms that trigger ALS and FTLD.

53 role of TDP-43 and RNA metabolism in ALS and FTLD.

54 lacks the glycine-rich domain where ALS- and FTLD-TDP-associated mutations cluster.

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

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

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

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

59 ng to help discriminate between FTLD-TAU and FTLD-TDP during life using diffusion tensor imaging (DTI

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

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

62 in vivo discrimination between FTLD-TAU and FTLD-TDP.

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

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

65 stinguishing feature for C9orf72 -associated FTLD.

66 A TMEM106B variant modifies GRN-associated FTLD risk.

67 er (WM) imaging to help discriminate between FTLD-TAU and FTLD-TDP during life using diffusion tensor

68 roimaging for in vivo discrimination between FTLD-TAU and FTLD-TDP.

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

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

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

72 er fluency (4.5 +/- 1.3 words/year) than C9N FTLD (1.4 +/- 0.8 words/year, p=0.023).

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

74 s; log-rank lambda2=4.183, p=0.041), and C9P FTLD showed a significantly greater annualised rate of d

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

76 uronal loss in the mid-frontal cortex in C9P FTLD, and mid-frontal cortex TDP-43 inclusion severity c

77 of frontotemporal lobar degeneration cases (FTLD-TDP), motor neuron disease, and amyotrophic lateral

78 Certain FTLD syndromes are associated with impaired flavour iden

79 4 in six neurodegenerative diseases cohorts (FTLD, ALS, Alzheimer disease, sporadic Creutzfeldt-Jakob

80 r identification performance in the combined FTLD cohort was significantly (p<0.05 after multiple com

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

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

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

84 - 6.0) or frontotemporal lobar degeneration (FTLD) (n = 31; age +/- SD, 63.9 +/- 7.1 y, mean MMSE sco

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

86 atures of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) cases with

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

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

89 bodies in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS).

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

91 (ALS) and frontotemporal lobar degeneration (FTLD) are characterized by cytoplasmic protein aggregate

92 rosis and frontotemporal lobar degeneration (FTLD) characterized by TDP-43 pathology (FTLD-TDP).

93 monogenic frontotemporal lobar degeneration (FTLD) due to Granulin (GRN) mutations might present a sp

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

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

96 Frontotemporal lobar degeneration (FTLD) is most commonly associated with TAR-DNA binding p

97 Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile demen

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

99 ents with frontotemporal lobar degeneration (FTLD) to determine whether any observed changes were spe

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

101 study for frontotemporal lobar degeneration (FTLD) with TAR DNA-binding protein (TDP)-43 pathology.

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

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

104 13%), and frontotemporal lobar degeneration (FTLD) with TDP inclusions (13%).

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

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

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

108 Frontotemporal lobar degeneration (FTLD), a neurodegenerative disease primarily affecting t

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

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

111 (ALS) and frontotemporal lobar degeneration (FTLD), but it is not known if they regulate the same tra

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

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

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

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

116 In frontotemporal lobar degeneration (FTLD)-TDP cases, CDC7 immunostaining overlaps with the p

117 including frontotemporal lobar degeneration (FTLD).

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

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

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

121 including frontotemporal lobar degeneration (FTLD).

122 osed with frontotemporal lobar degeneration (FTLD).

123 ortant in frontotemporal lobar degeneration (FTLD).

124 n lead to frontotemporal lobar degeneration (FTLD).

125 erosis or frontotemporal lobar degeneration (FTLD).

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

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

128 n ALS and frontotemporal lobar degeneration (FTLD).

129 btypes of frontotemporal lobar degeneration (FTLD).

130 ubtype of frontotemporal lobar degeneration (FTLD).

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

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

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

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

135 bgroup of frontotemporal lobar degeneration (FTLD-TDP).

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

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

138 urrently with frontotemporal lobal dementia (FTLD).

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

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

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

142 ased cells of frontotemporal lobar dementia (FTLD-U) and amyotrophic lateral sclerosis (ALS).

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

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

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

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

147 oRNA-132 as the top microRNA differentiating FTLD-TDP and control brains, with <50% normal expression

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

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

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

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

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

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

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

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

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

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

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

159 ified in brain and lymphoblasts derived from FTLD and ALS/FTLD patients and in zebrafish.

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

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

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-TDP brains, TDP-43 is phosphorylated, C-terminally

165 ively associated with cerebral tau burden in FTLD.

166 to evaluate effective brain connectivity in FTLD patients carrying GRN mutations (GRN+), compared wi

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

168 nderlying the onset of cognitive deficits in FTLD-TDP and other TDP-43 proteinopathies; thus, the TDP

169 he mechanistic study of cortical dementia in FTLD.

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

171 e related to frontal and parietal disease in FTLD.

172 nal fragment of TDP-43, which is enriched in FTLD/ALS cortical inclusions but not spinal cord inclusi

173 of cross-linked TDP-43 species are found in FTLD-TDP brains, indicating that aberrant TDP-43 cross-l

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

175 Mutation rates are high in FTLD spectrum disorders, and the proposed criteria provi

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

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

178 FUS-positive inclusions in FTLD and ALS patients are consistently co-labeled with s

179 and that expression levels are increased in FTLD-TDP brain.

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

181 Brain regions involved in FTLD (dorsolateral, anterior cingulate, orbitofrontal, p

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

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

184 To examine FUS pathology in FTLD, we developed the first mammalian animal model expr

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

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

189 tions for elucidating miR-based therapies in FTLD-TDP.

190 ding of the pathological role of TMEM106B in FTLD, an incurable neurodegenerative disorder.

191 rmore, the effects of rapamycin treatment in FTLD-U have not been investigated.

192 target for TDP-43 proteinopathies, including FTLD-TDP and amyotrophic lateral sclerosis.

193 l lobar degeneration with TDP-43 inclusions (FTLD-TDP) is a fatal neurodegenerative disease with no a

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

195 obar degeneration with TDP-43(+) inclusions (FTLD-TDP).

196 TAR DNA-binding protein (TDP-43) inclusions (FTLD-TDP).

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

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

199 egeneration with TDP-43-positive inclusions (FTLD-TDP).

200 ing protein-43 (TDP-43)-positive inclusions (FTLD-TDP).

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

202 neration with ubiquitin-positive inclusions (FTLD-U), Alzheimer's disease and Huntington's disease.

203 of FTLD with ubiquitin positive inclusions (FTLD-U).

204 dementia with ubiquitin-positive inclusions (FTLD-U).

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

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

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

208 obar degeneration with ubiquitin inclusions (FTLD-U).

209 The predominant neuropathology is FTLD with TAR DNA-binding protein (TDP-43) inclusions (F

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

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

212 k of AD and symptomatic AD patients, but not FTLD patients, exhibit a significant decrease in circula

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

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

215 orrectly classified 88.1% of AD and 83.9% of FTLD patients.

216 tor spasticity recapitulating key aspects of FTLD and primary lateral sclerosis.

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

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

219 recently been identified as a major cause of FTLD with ubiquitin positive inclusions (FTLD-U).

220 progranulin are a common Mendelian cause of FTLD-TDP; additionally, common variants at chromosome 7p

221 des a recently discovered inherited cause of FTLD.

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

223 validated standard for the classification of FTLD pedigrees.

224 Consistently, inclusions in the cortex of FTLD patients, which are enriched for C-terminal fragmen

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

226 sessed patients with a clinical diagnosis of FTLD.

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

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

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

230 reduction of neuron loss in the forebrain of FTLD-U mice.

231 10-40% of patients have an inherited form of FTLD.

232 While the majority of FTLD cases are sporadic, approximately 10-40% of patient

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

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

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

236 the roles of TMEM106B in the pathogenesis of FTLD-U with PGRN mutations.

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

238 re developed based on a literature review of FTLD genetics and pedigree tools and then refined by rev

239 single nucleotide polymorphisms with risk of FTLD-TDP was observed in patients with progranulin (GRN)

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

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

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

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

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

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

246 lso rescue the motor dysfunction of 7-mo-old FTLD-U mice.

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

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

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

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

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

252 on (FTLD) characterized by TDP-43 pathology (FTLD-TDP).

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

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

255 e of C9orf72, MAPT, or GRN mutation-positive FTLD in this series was 15.4%.

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

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

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

259 3 [5.2]), which were not observed in the PPA-FTLD or PPA-AD groups (all P < .005).

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

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

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

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

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

265 Twenty-six FTLD patients (13 GRN+ and 13 GRN- matched for age, sex,

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

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

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

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

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

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

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

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

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

275 to classify 90.5% of the AD and 83.9% of the FTLD patients correctly.

276 This FTLD-Tau model provides mechanistic insights into tauopa

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

278 ecently linked by genome-wide association to FTLD-TDP with and without GRN mutations.

279 lular levels and how TMEM106B contributes to FTLD.

280 In CBS due to FTLD (tau or TDP), atrophy extended into prefrontal cort

281 nd inclusion severity at autopsy relative to FTLD-TDP.

282 otemporal lobar degeneration with ubiquitin (FTLD-U) positive inclusions.

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

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

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

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

287 idence for greater WM burden associated with FTLD-TAU, and emphasise the role of WM neuroimaging for

288 pecific pattern of atrophy, as compared with FTLD GRN-negative disease.

289 carrying GRN mutations (GRN+), compared with FTLD patients without pathogenetic GRN mutations (GRN-)

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

291 l sclerosis and to motor neuron disease with FTLD.

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

293 tification prospectively in 25 patients with FTLD (12 with behavioural variant frontotemporal dementi

294 ansion was detected in 39 (6%) patients with FTLD (17 male and 22 female subjects); however, it was n

295 e cerebellum in HD compared to patients with FTLD and control subjects, while the level of HDAC 5 was

296 entification and counseling of patients with FTLD and their families regarding the likelihood of an i

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

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

299 tients from either controls or patients with FTLD.

300 nding by TDP-43 in brains from subjects with FTLD revealed that the greatest increases in binding wer

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