Inherited Creutzfeldt-jakob Disease

Description

Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease (see this term) characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.

Clinical Features

Top most frequent phenotypes and symptoms related to Inherited Creutzfeldt-jakob Disease

  • Seizures
  • Nystagmus
  • Muscle weakness
  • Tremor
  • Depressivity
  • Babinski sign
  • Dementia
  • Myoclonus
  • Gait ataxia
  • Anxiety

And another 40 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Inherited Creutzfeldt-jakob Disease Is also known as inherited cjd.

Researches and researchers

Doctors, researchs, and experts related to Inherited Creutzfeldt-jakob Disease extracted from public data.

Inherited Creutzfeldt-jakob Disease Experts map



Current Researchs and researchers

  • PARIS — Pr Alexandra DURR

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

    • Institution/s:
      — Centre de génétique moléculaire et chromosomique, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
      — 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
    • Research area/topic::

      The issue of prenatal / preimplantation diagnosis in parentage information in neurogenetic and neuromuscular dominant diseases


  • MILANO — Dr Roberto CHIESA

    Investigator of research project

    • Institution/s:
      — Dulbecco Telethon Institute, Istituto di Ricerche Farmacologiche "Mario Negri"
    • Research area/topic::

      A new exploitation of a tetracationic-porphyrin able to reduce PrPC and to inhibit PrPSc replication: characterization of the mechanism of action and preclinical studies in mouse models of genetic prion disease


  • SANTIAGO DE COMPOSTELA — Dr Jesús RODRÍGUEZ REQUENA

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — CiMUS - Centro de Investigación en Medicina Molecular y Enfermedades Crónicas
    • Research area/topic::

      CHAPRION: Pharmacological chaperones for genetic prion diseases - ES



Mendelian

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Inherited Creutzfeldt-jakob Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
5 %
Genes
100 %
Genetic Prion Diseases.

By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation (United States).

PRNP
Specificity
100 %
Genes
100 %
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 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
PRNP. Complete sequencing.

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

PRNP
Specificity
100 %
Genes
100 %
PRNP. Complete sequencing.

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

PRNP
Specificity
100 %
Genes
100 %
Familial Creutzfeldt-Jakob Disease (sequence analysis of PRNP gene).

By CGC Genetics (Portugal).

PRNP
Specificity
100 %
Genes
100 %

We have 41 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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