Early-onset Autosomal Dominant Alzheimer Disease

Description

Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.

Clinical Features

Top most frequent phenotypes and symptoms related to Early-onset Autosomal Dominant Alzheimer Disease

  • Intellectual disability
  • Seizures
  • Ataxia
  • Hypertonia
  • Dementia
  • Myoclonus
  • Cerebral cortical atrophy
  • Confusion
  • Parkinsonism
  • Memory impairment

And another 17 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Early-onset Autosomal Dominant Alzheimer Disease Is also known as early-onset familial autosomal dominant alzheimer disease, eofad, familial alzheimer disease.

Researches and researchers

Doctors, researchs, and experts related to Early-onset Autosomal Dominant Alzheimer Disease extracted from public data.

Early-onset Autosomal Dominant Alzheimer Disease Experts map



Current Researchs and researchers

  • — Institution: Information not provided - DE



    • Institution/s:
      — Institution: Information not provided - DE
    • Research area/topic::

      JPND - CicProt: Protection of synaptic circuits by BDNF/TrkB and arc signalling pathways in mouse models of Alzheimer's dementia (AD) and Huntington's disease (HD)


  • MÜNCHEN — Dr Johannes LEVIN

    Clinical expert - Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — LMU Klinikum der Universität München - Campus Großhadern
      — DZNE-Standort München
    • Research area/topic::

      Dominantly Inherited Alzheimer Network (DIAN) - DE


  • BRESCIA — Dr Giovanni FRISONI

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — IRCCS Centro S.Giovanni di Dio - Fatebenefratelli
    • Research area/topic::

      DIAN - Italian Network for autosomal dominant Alzheimer's disease and frontotemporal lobal degeneration


  • FIRENZE — Pr Sandro SORBI

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

    • Institution/s:
      — Dipartimento di Scienze Neurologiche e Psichiatriche, Azienda Ospedaliero Universitaria Careggi - NEUROFARBA
    • Research area/topic::

      DIAN - Italian Network for autosomal dominant Alzheimer's disease and frontotemporal lobal degeneration


  • FOGGIA — Dr Claudio BABILONI

    Investigator of research project

    • Institution/s:
      — Laboratorio di Patologia Generale, Azienda Ospedaliero Universitaria di Foggia - Ospedali Riuniti
    • Research area/topic::

      DIAN - Italian Network for autosomal dominant Alzheimer's disease and frontotemporal lobal degeneration


  • GENOVA — Dr Massimo TABATON

    Investigator of research project

    • Institution/s:
      — IRCCS AOU San Martino - IST - DINOGMI
    • Research area/topic::

      Effects of Presenilin 1 mutationts on the beta-secretase cleavage of beta-amyloid precursor protein and on gene expression. The substrate of the phenotypic heterogeneity of familial Alzheimer's Disease


  • MILANO — Dr Fabrizio TAGLIAVINI

    Investigator of research project

    • Institution/s:
      — Fondazione IRCCS Istituto Neurologico "Carlo Besta"
    • Research area/topic::

      DIAN - Italian Network for autosomal dominant Alzheimer's disease and frontotemporal lobal degeneration


  • PADOVA — Pr Rosario RIZZUTO

    Investigator of research project

    • Institution/s:
      — Università degli Studi di Padova- Polo A.Vallisneri
    • Research area/topic::

      Mitochondrial Ca2+ uptake in the pathogenesis of familial Alzheimer's disease


  • SAN GIOVANNI ROTONDO — Dr Maria Grazia SAVINO

    Clinical geneticist - Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Dipartimento di Patologia Clinica, IRCCS Ospedale Casa Sollievo della Sofferenza
      — Dipartimento di Scienze Mediche, IRCCS Ospedale Casa Sollievo della Sofferenza
    • Research area/topic::

      Innovation and potential of microarray technology in genotyping applied to personalized therapy and identification of genotypes associated with drug treatment


  • TRENTO — Dr Emiliano BIASINI

    Investigator of research project

    • Institution/s:
      — Centro Interdipartimentale per la Biologia Integrata, Università di Trento
    • Research area/topic::

      Defining the role of the cellular prion protein at the intersection of several neurodegenerative diseases


  • BARCELONA — Dr Raquel SÁNCHEZ DEL VALLE DÍAZ

    Coordinator of expert centre - Genetic counsellor - Investigator of research project

    • Institution/s:
      — Servicio de Neurología, Hospital Clínic de Barcelona
      — Neurociencia clínica y experimental, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
    • Research area/topic::

      Genetic dementia (autosomal dominant Alzheimer's disease and genetic prion diseases) in preclinical and early stages of the disease: cognitive performance, neuroimaging and biochemical markers


  • BELLINZONA — Dr Maurizio MOLINARI

    Investigator of research project

    • Institution/s:
      — Protein Folding and Quality Control - Institute for Research in Biomedicine, Istituto di Ricerca in Biomedicina
    • Research area/topic::

      Investigating cellular mechanisms regulating protein folding and quality control to intervene in conformational diseases


  • CAMBRIDGE — Pr James FAWCETT

    Coordinator of research network

    • Institution/s:
      — University of Cambridge, John van Geest Centre for Brain Repair
    • Research area/topic::

      EUNEURONE: European Consortium for Research in Neurodegenerative Diseases



Mendelian

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Early-onset Autosomal Dominant Alzheimer Disease 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 , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
29 %
ADmark® APP DNA Sequencing/Duplication Test.

By Athena Diagnostics Inc (United States).

APP
Specificity
100 %
Genes
15 %
ADmark® Early Onset Alzheimer's Evaluation.

By Athena Diagnostics Inc (United States).

APP, PSEN1, PSEN2
Specificity
100 %
Genes
43 %
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
24 %
Genes
72 %
APOE, APP, PSEN1, PSEN2. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

APOE, APP, PSEN1, PSEN2
Specificity
75 %
Genes
43 %
APP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

APP
Specificity
100 %
Genes
15 %
, APP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

APP
Specificity
100 %
Genes
15 %
APP. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

APP
Specificity
100 %
Genes
15 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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