Huntington Disease-like 1

Clinical Features

Top most frequent phenotypes and symptoms related to Huntington Disease-like 1

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Delayed speech and language development
  • Dysarthria
  • Gait disturbance
  • Ventriculomegaly
  • Cerebellar atrophy

And another 45 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

Huntington Disease-like 1 Is also known as early-onset prion disease with prominent psychiatric features, hln1, prion disease, early-onset, with prominent psychiatric features, hdl1, huntington-like neurodegenerative disorder 1, huntington-like neurodegenerative disorder, autosomal dominant.

Researches and researchers

Doctors, researchs, and experts related to Huntington Disease-like 1 extracted from public data.

Huntington Disease-like 1 Experts map



Current Researchs and researchers

  • FONTENAY-AUX-ROSES — Dr Steve SIMONEAU

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Institut des maladies émergentes et des thérapies innovantes, CEA - Commissariat à l'Energie Atomique
    • Research area/topic::

      NEUROPRION: European network dedicated to research on prion diseases (coordination)


  • MONTPELLIER — Pr Sylvain LEHMANN

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

    • Institution/s:
      — Institut de Recherches en Biothérapie (IRB)
    • Research area/topic::

      Normal and pathological function of the prion protein


  • PARIS — Dr Chiara ZURZOLO

    Investigator of research project

    • Institution/s:
      — Azienda Ospedaliera Universitaria "Federico II"
      — Département de Biologie cellulaire et infection, Institut Pasteur
    • Research area/topic::

      Role of intracellular trafficking in the pathogenesis of inherited prion diseases


  • BONN — Pr Alexander PFEIFER

    Investigator of research project - Director of department

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

      Development of a strategy for somatic genetherapy in neurodegenerative diseases on basis of RNA interference using transgenic mouse models of prion diseases


  • NAPOLI — Dr Chiara ZURZOLO

    Investigator of research project

    • Institution/s:
      — Azienda Ospedaliera Universitaria "Federico II"
      — Département de Biologie cellulaire et infection, Institut Pasteur
    • Research area/topic::

      Role of intracellular trafficking in the pathogenesis of inherited prion diseases


  • AMSTERDAM — Pr P.J. [Peter] PETERS

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Divisie Celbiologie II, Het Nederlands Kanker Instituut - Antoni van Leeuwenhoek Ziekenhuis
    • Research area/topic::

      ANTEPRION: development of a pre-clinical blood test for prion diseases (coordination)


  • FARO — Pr Eduardo P PINHO E MELO

    Investigator of research project

    • Institution/s:
      — Faculdade de Ciências e Tecnologia, Universidade do Algarve
    • Research area/topic::

      Single-Molecule Detection of the Prion Protein: Characterization of Conformational Change Involved on Prion Diseases.



Mendelian

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Huntington Disease-like 1 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.

MESH OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5

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