FTDP‐17: An early‐onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation

No abstract is available for this paper.

• Publication year

  1999

• Venue

  Annals of Neurology

• Publication date

  1999-11-01

• Fields of study

  Medicine, Psychology

• Identifiers
  DOI 10.1002/1531-8249(199911)46:5<708::AID-ANA5>3.0.CO;2-KPMID 10553987
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Corticobasal degeneration: a disease with widespread appearance of abnormal tau and neurofibrillary tangles, and its relation to progressive supranuclear palsy

  2004cited by this paper
• Intracellular adhesion molecule‐1 polymorphisms and genetic susceptibility to multiple sclerosis: Additional data and meta‐analysis

  2000cited by this paper
• High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands.

  1999cited by this paper
• Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

  1998cited by this paper
• Tau is a candidate gene for chromosome 17 frontotemporal dementia

  1998cited by this paper
• Hereditary dysphasic disinhibition dementia A frontotemporal dementia linked to 17 q21‐‐22

  1998cited by this paper
• Familial aggregation in frontotemporal dementia

  1998cited by this paper
• Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau

  1998cited by this paper
• Genetic evidence for the involvement of τ in progressive supranuclear palsy

  1997cited by this paper
• Hereditary frontotemporal dementia is linked to chromosome 17q21—q22: A genetic and clinicopathological study of three dutch families

  1997cited by this paper
• Clinical characteristics of a chromosome 17-linked rapidly progressive familial frontotemporal dementia.

  1997cited by this paper
• Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21–22

  1997cited by this paper
• Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference

  1997cited by this paper
• Relationship between clinical features of Parkinson's disease and presynaptic dopamine transporter binding assessed with [123I]IPT and single-photon emission tomography

  1997cited by this paper
• Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21.

  1996cited by this paper
• Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype.

  1996cited by this paper
• Familial progressive subcortical gliosis

  1995cited by this paper
• Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22.

  1994cited by this paper
• Non-Alzheimer degenerative dementias.

  1994cited by this paper
• Clinical characteristics of a family with chromosome 17‐linked disinhibition‐dementia‐ parkinsonism‐amyotrophy complex

  1994cited by this paper
• Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups.

  1994cited by this paper
• Rapidly progressive autosomal dominant parkinsonism and dementia with pallido‐ponto‐nigral degeneration

  1992cited by this paper
• SPECT imaging of dopamine D2 receptors with 123I‐IBZM: initial experience in controls and patients with Parkinson's syndrome and Wilson's disease

  1991cited by this paper
• Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease.

  1989cited by this paper
• A simple salting out procedure for extracting DNA from human nucleated cells.

  1988cited by this paper
• Non-specific familial presenile dementia.

  1968cited by this paper

• Site-Specific Aspartic Acid d-Isomerization in Tau R2 and R3 Peptide Seeds Attenuates Seed-Induced Fibril Formation of Full-Length Tau

  2026cites this paper
• Evidence that cholinergic mechanisms contribute to hyperexcitability at early stages in Alzheimer’s disease

  2025cites this paper
• A Sensitive and Versatile Cell‐Based Assay Combines Luminescence and Trapping Approaches to Monitor Unconventional Protein Secretion

  2025cites this paper
• Characterization of the brain lipidome associated with frontotemporal lobar degeneration MAPT P301S mutation

  2025cites this paper
• Deciphering the role of TYK2 in tau phosphorylation and pathology.

  2025cites this paper
• Mutant MAPT Induces rDNA Transcriptional Hyperactivation and Nucleolar Stress in Cellular Models

  2025cites this paper
• Intracellular Trafficking SNARE Protein, Syntaxin-6, is a Modifier of Prion and Tau Pathogenesis in vivo and in Cellular Models

  2025cites this paper
• A rare genetic variant confers resistance to neurodegeneration across multiple neurological disorders by augmenting selective autophagy.

  2025cites this paper
• Tau from SPAM Transgenic Mice Exhibit Potent Strain-Specific Prion-Like Seeding Properties Characteristic of Human Neurodegenerative Diseases

  2025cites this paper
• Electrostatic Effects on Tau Nanocondensates

  2025cites this paper
• Sensitive detection and propagation of brain-derived tau assemblies in HEK293-based wild-type tau seeding assays

  2024cites this paper
• Severe neurodegeneration in brains of transgenic rats producing human tau prions

  2024cites this paper
• Accelerated sarcopenia precedes learning and memory impairments in the P301S mouse model of tauopathies and Alzheimer's disease

  2024influential citation
• Human iPSC 4R tauopathy model uncovers modifiers of tau propagation.

  2024cites this paper
• Mitochondrial complex III-derived ROS amplify immunometabolic changes in astrocytes and promote dementia pathology

  2024cites this paper
• Effect of Aging and a Dual Orexin Receptor Antagonist on Sleep Architecture and Non-REM Oscillations Including an REM Behavior Disorder Phenotype in the PS19 Mouse Model of Tauopathy

  2023cites this paper
• Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study.

  2023cites this paper
• Longitudinal characterization of behavioral, morphological and transcriptomic changes in a tauopathy mouse model

  2023cites this paper
• Human iPSC 4R tauopathy model uncovers modifiers of tau propagation

  2023cites this paper
• Behavioral and Neuropathological Phenotyping of the Tau58/2 and Tau58/4 Transgenic Mouse Models for FTDP-17

  2023cites this paper
• Effect and Potential Mechanism of Immunotherapy on Cognitive Deficits in Animal Models of Alzheimer's Disease: A Systematic Review and Meta-Analysis.

  2023cites this paper
• Aging, NRF2, and TAU: A Perfect Match for Neurodegeneration?

  2023cites this paper
• CSF1R inhibitors induce a sex-specific resilient microglial phenotype and functional rescue in a tauopathy mouse model

  2023cites this paper
• Cryo-EM structures of tau filaments from the brains of mice transgenic for human mutant P301S Tau

  2023cites this paper
• X-linked ubiquitin-specific peptidase 11 increases tauopathy vulnerability in women.

  2022cites this paper
• “Split-day syndrome”, a patient with frontotemporal dementia who lives two days in the span of one: a case report and review of articles

  2022cites this paper
• Effects of Long-Term Alcohol Consumption on Behavior in the P301S (Line PS19) Tauopathy Mouse Model

  2022cites this paper
• CSF1R inhibitor levels determine sex-specific phenotype of resilient microglia and neurofunctional rescue leading to extended survival in tauopathy mice

  2022cites this paper
• Mutations linked to neurological disease enhance self-association of low-complexity protein sequences

  2022cites this paper
• Neuropathology and emerging biomarkers in corticobasal syndrome

  2022cites this paper
• Association between single moderate to severe traumatic brain injury and long-term tauopathy in humans and preclinical animal models: a systematic narrative review of the literature

  2022influential citation
• Extremely Early-Onset Frontotemporal Dementia: A Case Report and Literature Review

  2022cites this paper
• Proteomic Analysis of Hydromethylthionine in the Line 66 Model of Frontotemporal Dementia Demonstrates Actions on Tau-Dependent and Tau-Independent Networks

  2021cites this paper
• Human Induced Pluripotent Stem Cell Models of Frontotemporal Dementia With Tau Pathology

  2021cites this paper
• Deposition of Phosphorylated α-Synuclein and Activation of GSK-3β and PP2A in the PS19 Mouse Model of Tauopathy.

  2021cites this paper
• Diagnosis and Management of Seizures in Neurodegenerative Diseases

  2021cites this paper
• Sex-specific life extension in tauopathy mice by CSF1R inhibition causing selective microglial depletion and suppressed pathogenesis

  2021cites this paper
• Long-Term Hydromethylthionine Treatment Is Associated with Delayed Clinical Onset and Slowing of Cerebral Atrophy in a Pre-Symptomatic P301S MAPT Mutation Carrier

  2021cites this paper
• Tracing the genetics of neurological disease to the mutation-directed addition of single hydrogen bonds

  2021cites this paper
• Tipping the Scales: Peptide-Dependent Dysregulation of Neural Circuit Dynamics in Alzheimer's Disease.

  2020cites this paper
• Distinct microscopic mechanisms for the accelerated aggregation of pathogenic Tau mutants revealed by kinetic analysis.

  2020cites this paper
• Nasal vaccine delivery attenuates brain pathology and cognitive impairment in tauopathy model mice

  2020cites this paper
• A soluble truncated tau species related to cognitive dysfunction is elevated in the brain of cognitively impaired human individuals

  2020cites this paper
• Intracerebral seeding of amyloid-β and tau pathology in mice: factors underlying prion-like spreading and comparisons with α-synuclein.

  2020cites this paper
• Tau Protein as a New Regulator of Cellular Prion Protein Transcription

  2020cites this paper
• Pre-clinical characterisation of E2814, a high-affinity antibody targeting the microtubule-binding repeat domain of tau for passive immunotherapy in Alzheimer’s disease

  2020cites this paper
• Non-Convulsive Status Epilepticus in Behavioral Variant Frontotemporal Dementia

  2020cites this paper
• Unravelling the Role of Glycogen Synthase Kinase-3 in Alzheimer’s Disease-Related Epileptic Seizures

  2020cites this paper
• Novel mGluR4 agonist Rapitalam ameliorates motor dysfunction in mice with tau-associated neurodegeneration

  2020cites this paper
• The molecular tweezer CLR01 improves behavioral deficits and reduces tau pathology in P301S-tau transgenic mice

  2020cites this paper
• Inhibition of EHMT 1 / 2 rescues synaptic and cognitive functions for Alzheimer ’ s disease

  2019cites this paper
• Investigating the effects of tau mutations in induced pluripotent stem cell-derived neurons

  2019influential citation
• Cerebral transcriptome analysis reveals age-dependent progression of neuroinflammation in P301S mutant tau transgenic male mice.

  2019cites this paper
• Cdk5 regulates the phosphorylation of tyrosine 1472 NR2B and the surface expression of NMDA receptors

  2019cites this paper
• Progressive age-dependent motor impairment in human tau P301S overexpressing mice.

  2019cites this paper
• Pentylenetetrazole-induced seizure susceptibility in the Tau58/4 transgenic mouse model of tauopathy.

  2019cites this paper
• Genetically Engineered iPSC-Derived FTDP-17 MAPT Neurons Display Mutation-Specific Neurodegenerative and Neurodevelopmental Phenotypes

  2019cites this paper
• S-nitrosylation of E3 ubiquitin-protein ligase RNF213 alters non-canonical Wnt/Ca+2 signaling in the P301S mouse model of tauopathy

  2019cites this paper
• Inhibition of EHMT1/2 rescues synaptic and cognitive functions for Alzheimer’s disease

  2019cites this paper
• Epilepsy and Aging

  2019cites this paper
• Measurement of Tau Filament Fragmentation Provides Insights into Prion-like Spreading.

  2018cites this paper
• Tau-Induced Pathology in Epilepsy and Dementia: Notions from Patients and Animal Models

  2018cites this paper
• Human Tau Expression Does Not Induce Mouse Retina Neurodegeneration, Suggesting Differential Toxicity of Tau in Brain vs. Retinal Neurons

  2018cites this paper
• EEG and ERP biomarkers of Alzheimer's disease: a critical review.

  2018cites this paper
• The Contribution of Spleen Tyrosine Kinase to the Pathobiology of Alzheimer’s Disease

  2018influential citation
• Genetically Engineered iPSC-Derived FTDP-17 MAPT Neurons Display Mutation-Specific Neurodegenerative and Neurodevelopmental Phenotypes

  2018cites this paper
• SIRT1: A Novel Way to Target Tau?

  2018cites this paper
• Altered learning, memory, and social behavior in type 1 taste receptor subunit 3 knock-out mice are associated with neuronal dysfunction

  2017cites this paper
• GFP-Mutant Human Tau Transgenic Mice Develop Tauopathy Following CNS Injections of Alzheimer's Brain-Derived Pathological Tau or Synthetic Mutant Human Tau Fibrils

  2017cites this paper
• Animal Models of Acquired Epilepsy and Tauopathies

  2017cites this paper
• Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17) due to microtubule‐associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy

  2017cites this paper
• Evidence for sortilin modulating regional accumulation of human tau prions in transgenic mice

  2017cites this paper
• Epilepsy and electroencephalographic abnormalities in C9orf72 repeat expansion

  2017cites this paper
• Misfolded proteins affect synaptic plasticity and network activity

  2017cites this paper
• An inhibitor of the proteasomal deubiquitinating enzyme USP14 induces tau elimination in cultured neurons

  2017influential citation
• Alzheimer’s disease pathological lesions activate the spleen tyrosine kinase

  2017cites this paper
• Frontotemporal Dementia Caused by the P301L Mutation in the MAPT Gene: Clinicopathological Features of 13 Cases from the Same Geographical Origin in Barcelona, Spain

  2017cites this paper
• Next Generation Sequencing Data Analysis Evaluation in Patients with Parkinsonism from a Genetically Isolated Population

  2017cites this paper
• The role of GPCRs in neurodegenerative diseases: avenues for therapeutic intervention

  2017cites this paper
• Imaging of Neurotransmitter Systems in Dementia

  2016cites this paper
• Labeling Pathological Tau: An Important Quest for the Unknown

  2016cites this paper
• Tau physiology and pathomechanisms in frontotemporal lobar degeneration

  2016cites this paper
• Parkinsonism, movement disorders and genetics in frontotemporal dementia

  2016cites this paper
• Clinical Features and Disease Haplotypes of Individuals With the N279K tau Gene Mutation

  2016cites this paper
• MAPT mutation associated with frontotemporal dementia and parkinsonism (FTDP-17)

  2016cites this paper
• Ludopatía y epilepsia en demencia frontotemporal: reporte de dos casos

  2016cites this paper
• Molecular Pathways in Alzheimer’s Disease and Cognitive Function: New Insights into Pathobiology of Tau

  2016cites this paper
• Tau and tauopathies.

  2016cites this paper
• Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis

  2016cites this paper
• Physiological functions and pathobiology of TDP‐43 and FUS/TLS proteins

  2016cites this paper
• Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17

  2015cites this paper
• Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging

  2015cites this paper
• Cellular factors modulating the mechanism of tau protein aggregation

  2015cites this paper
• The fluorescent pentameric oligothiophene pFTAA identifies filamentous tau in live neurons cultured from adult P301S tau mice

  2015cites this paper
• Environment Gene Interaction in Essential Tremors Specific Aims of the Proposal:

  2015cites this paper
• Correction: Piericidin A Aggravates Tau Pathology in P301S Transgenic Mice

  2015cites this paper
• Reducing tau aggregates with anle138b delays disease progression in a mouse model of tauopathies

  2015cites this paper
• Functional implications of tau-fyn interactions in Alzheimer's disease

  2015cites this paper
• Tauopathies: Classification, Clinical Features, and Genetics

  2015cites this paper
• Neuronal Network Oscillations in Neurodegenerative Diseases

  2015cites this paper