Frontotemporal Dementia; Ftd

Description

Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS ) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). {30,31:Mackenzie et al. (2009, 2010)} provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). Clinical Variability of TauopathiesTauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.Other neurodegenerative associated with mutations in the MAPT gene include Pick disease (OMIM ) and progressive supranuclear palsy (PSP ),Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' (Lee et al., 2001).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Frontotemporal Lobar DegenerationMutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions (OMIM ), caused by mutation in the GRN gene (OMIM ) on chromosome 17q21; FTLD mapping to chromosome 3 (OMIM ), caused by mutation in the CHMP2B gene (OMIM ); inclusion body myopathy with Paget disease and FTD (IBMPFD ), caused by mutation in the VCP gene (OMIM ) on chromosome 9p13; ALS6 (OMIM ), caused by mutation in the FUS gene (OMIM ) on 16p11; ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ) on 1p36; and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ) on 9p.In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1 ) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Frontotemporal Dementia; Ftd

  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Tremor
  • Dysphagia
  • Ventriculomegaly
  • Myopathy
  • Behavioral abnormality
  • Dystonia
  • Dilatation

And another 58 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available FRONTOTEMPORAL DEMENTIA; FTD have a estimated prevalence of 3 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Frontotemporal Dementia; Ftd Is also known as mstd, frontotemporal dementia with parkinsonism, ftld with tau inclusions, ddpac, ftdp17, wilhelmsen-lynch disease, pallidopontonigral degeneration, frontotemporal lobar degeneration with tau inclusions, frontotemporal lobe dementia, disinhibition-dementia-parkins.

Researches and researchers

Doctors, researchs, and experts related to Frontotemporal Dementia; Ftd extracted from public data.

Frontotemporal Dementia; Ftd Experts map



Current Researchs and researchers

  • LEUVEN — Pr Fred VAN LEUVEN

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Department of Human Genetics, University Hospitals Leuven - Gasthuisberg
    • Research area/topic::

      NEURO-GSK3: GSK3 in neuronal plasticity and neurodegeneration: basic mechanisms and pre-clinical assessment (coordination)


  • AALBORG — Pr Simon F ESKILDSEN

    Investigator of research project

    • Institution/s:
      — Aalborg Hospital
    • Research area/topic::

      Measurement of atrophy in presymptomatic FTD-3 mutation carriers


  • BORDEAUX — Dr Helene AMIEVA

    Investigator of research project

    • Institution/s:
      — Université de Bordeaux ISPED
    • Research area/topic::

      Multidisciplinary and personalized management of behavioral disorders in Fronto-Temporale Lobar Degeneration


  • DIJON — Mr David MONCHAUD

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Faculté des Sciences de Santé
    • Research area/topic::

      DEMENTIA : Exploiting genetic biomarkers of neurodegenerative diseases for developing early diagnostic tests and possible treatments - FR


  • LILLE — Dr André DELACOURTE

    Investigator of research project

    • Institution/s:
      — INSERM U 837, Centre de Recherches Jean-Pierre Aubert (CRJPA)
    • Research area/topic::

      Diagnostic and therapeutic approach of neurodegenerative disorders with tauopathy and synucleopathy : Alzheimer disease, progressive supranuclear palsy, frontotemporal lobe dementia, Lewy body dementia


  • PARIS — Dr Isabelle LE BER

    Clinical expert - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
      — Centre des maladies cognitives et comportementales, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      INSERM RBM 059: French clinical and genetic research network on frontotemporal dementia with or without amyotrophic lateral sclerosis


  • PARIS — Pr Bruno DUBOIS

    Coordinator of expert centre - Clinical expert - Coordinator of research network

    • Institution/s:
      — Centre des maladies cognitives et comportementales, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      Réseau français de recherche clinique et génétique sur les démences frontotemporales liées ou non à la sclérose latérale amyotrophique


  • PARIS — Pr Alexis BRICE

    Clinical geneticist - Principal investigator of clinical trial - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Service de Génétique clinique et Médicale, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases - FR


  • PARIS — Dr Mathieu BARBIER

    Investigator of research project

    • Institution/s:
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      In search of genetic modifiers to predict the Age at Onset in Frontotemporal-Lobar Dementia


  • STRASBOURG — Dr Luc DUPUIS

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Université de Strasbourg, Faculté de médecine de Strasbourg - Louis Pasteur
    • Research area/topic::

      ToFU: Interactions between TAU, FUS and TDP-43 in neurodegenerative diseases - FR


  • BONN — Pr Thomas KLOCKGETHER

    Clinical expert - Investigator of research project - Manager of registry - Contact person of registry - Manager of biobank/collection - Coordinator of research network

    • Institution/s:
      — Universitätsklinikum Bonn
      — Universitätsklinikum Bonn
    • Research area/topic::

      NEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases -DE-


  • BONN — Pr Anja SCHNEIDER

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — Universitätsklinikum Bonn
      — DZNE-Standort Bonn
    • Research area/topic::

      DESCRIBE-FTD - Clinical Registry Study on Frontotemporal Dementia (FTD)


  • KÖLN — Pr Brunhilde WIRTH

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department

    • Institution/s:
      — Institut für Humangenetik am Universitätsklinikum Köln
    • Research area/topic::

      NEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases -DE-


  • MÜNCHEN — Pr Martin DICHGANS

    Clinical expert - Responsible for diagnostic tests - Investigator of research project - Coordinator of research network - Director of laboratory

    • Institution/s:
      — Neurologische Klinik und Poliklinik, LMU Klinikum der Universität München - Campus Großhadern
      — Klinikum der Universität München
    • Research area/topic::

      Molecular diagnosis of MAPT gene in the context of the research on frontotemporal dementia / Pick disease


  • TÜBINGEN — Pr Philipp J KAHLE

    Investigator of research project - Director of laboratory

    • Institution/s:
      — Zentrum für Neurologie, Hertie-Institut für klinische Hirnforschung (HIH)
    • Research area/topic::

      Cell Biology of the FTD/ALS Associated Nuclear Splice Factor TDP-43


  • TÜBINGEN — Pr Peter HEUTINK

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — DZNE-Standort Tübingen
    • Research area/topic::

      RiMod-FTD: Risk and Modifying factors in Fronto-Temporal Dementia (coordination)


  • TÜBINGEN — Pr Olaf RIESS

    Clinical expert - Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Contact person of registry - Manager of biobank/collection - Contact person of biobank/collection - Coordinator of research network - Director of

    • Institution/s:
      — Institut für Medizinische Genetik und angewandte Genomik Tübingen
      — Behandlungs- und Forschungszentrum für Seltene Erkrankungen ZSE Tübingen
    • Research area/topic::

      NEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases -DE-


  • TÜBINGEN — Dr Holm GRAESSNER

    Investigator of research project - Coordinator of expert centre network - Coordinator of research network

    • Institution/s:
      — Institut für Medizinische Genetik und angewandte Genomik Tübingen
    • Research area/topic::

      NEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases -DE-


  • MATTARELLO — Dr Michela A. DENTI

    Investigator of research project

    • Institution/s:
      — Università degli Studi di Trento, Centro Interdipartimentale per la Biologia Integrata (CIBIO)
    • Research area/topic::

      Antisense rna-induced exon-skipping for the gene therapy of frontotemporal dementia and parkinsonism associated with chromosome 17 (FTDP-17)


  • MILANO — Pr Elena CATTANEO

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Università degli Studi di Milano - Scienze Biomolecolari e Biotecnologiche
      — Centro di Eccellenza per le Malattie Degenerative, Università degli Studi di Milano - Scienze Farmacologiche e Biomolecolari
    • Research area/topic::

      NEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases - IT


  • LEIDEN — Pr A.M. [Annemieke] AARTSMA-RUS

    Investigator of research project

    • Institution/s:
      — LUMC - Leids Universitair Medisch Centrum
    • Research area/topic::

      NEUROMICS: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases - NL


  • NIJMEGEN — Dr H.J. [Henk-Jan] JOOSTEN

    Investigator of research project

    • Institution/s:
      — Bio-Prodict BV
    • Research area/topic::

      NEUROMICS: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases - NL


  • SEVILLA — Dr María del Carmen PEÑA CHILET

    Investigator of research project

    • Institution/s:
      — Fundación Progreso y Salud
    • Research area/topic::

      Mathematical models of disease mechanisms to reformulate drugs for rare diseases


  • YORK — Dr Sean T SWEENEY

    Investigator of research project

    • Institution/s:
      — The University of York
    • Research area/topic::

      Interaction of Rab8 with OCRL1: Synaptic growth function in Frontotemporal Dementia and the Neurodevelopmental Disorder Lowe Syndrome


  • SAN FRANCISCO — Michael WARD

    Investigator of research project

    • Institution/s:
      — University Of California, San Francisco
    • Research area/topic::

      Investigation of nuclear transport dysfunction in an ocular model of ftld



Mendelian

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Frontotemporal Dementia; Ftd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

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Specificity
1 %
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50 %
ADmark® PSEN1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

PSEN1
Specificity
100 %
Genes
50 %
ADmark® Early Onset Alzheimer's Evaluation.

By Athena Diagnostics Inc (United States).

APP, PSEN1, PSEN2
Specificity
34 %
Genes
50 %
Dementia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
100 %
Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)

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Specificity
2 %
Genes
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Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

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Specificity
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Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

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Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

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Sources and references

You can check the following sources for additional information.

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