Fragile X-associated Tremor/ataxia Syndrome

Description

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

Clinical Features

Top most frequent phenotypes and symptoms related to Fragile X-associated Tremor/ataxia Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Pain
  • Cognitive impairment
  • Hypertension

And another 75 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Fragile X-associated Tremor/ataxia Syndrome Is also known as fxtas syndrome.

Researches and researchers

Doctors, researchs, and experts related to Fragile X-associated Tremor/ataxia Syndrome extracted from public data.

Fragile X-associated Tremor/ataxia Syndrome Experts map



Current Researchs and researchers

  • EVRY — Dr Cécile MARTINAT

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — I-Stem Inserm/UEVE 861 - CECS, GENOPOLE - Campus 1
    • Research area/topic::

      Drug_FXSPreMut : Preclinical approaches towards therapeutic intervention for fragile X premutation carriers - FR


  • ILLKIRCH-GRAFFENSTADEN — Dr Nicolas CHARLET-BERGUERAND

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
    • Research area/topic::

      RNA DISEASES: UNDERSTANDING THE CAUSES OF THE RNA GAIN OF FUNCTION DISEASES - FR


  • ILLKIRCH-GRAFFENSTADEN — Dr Chantal SELLIER

    Investigator of research project

    • Institution/s:
      — IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
    • Research area/topic::

      DrugFXTAS: Identify a therapy strategy for FXTAS


  • MAGDEBURG — Pr Oliver STORK

    Investigator of research project

    • Institution/s:
      — FNW/ Institut für Biologie, Otto-von-Guericke-Universität Magdeburg
    • Research area/topic::

      Drug_FXSPreMut: Preclinical approaches towards therapeutic intervention for fragile X premutation carriers - DE (partner no 1)


  • ROTTERDAM — Pr R. [Rob] WILLEMSEN

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Erasmus MC - Erasmus Medisch Centrum
    • Research area/topic::

      Drug_FXSPreMut: Preclinical approaches towards therapeutic intervention for fragile X premutation carriers - NL


  • ROTTERDAM — Dr R.K. [Renate] HUKEMA

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Erasmus MC - Erasmus Medisch Centrum
    • Research area/topic::

      Cure-FXTAS: Experimental approaches towards therapeutic intervention for Fragile X-associated Tremor Ataxia Syndrome


  • CÁDIZ — Dr Luis Miguel VALOR BECERRA

    Investigator of research project

    • Institution/s:
      — Hospital Universitario Puerta del Mar
    • Research area/topic::

      Biomarkers and targets of the cell nucleus in trinucleotides neurodegenerative diseases


Fragile X-associated Tremor/ataxia Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FRX.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

FMR1
Specificity
100 %
Genes
100 %
FMR1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

FMR1
Specificity
100 %
Genes
100 %
FMR1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

FMR1
Specificity
100 %
Genes
100 %
FMR1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

FMR1
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Basic Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

SMN1, CFTR, DMD, FMR1, HBA1, HBA2, HBB
Specificity
15 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
GeneAware ACMG/ACOG Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SMN1, SMPD1, MCOLN1, CFTR, DMD, FANCC, FMR1, GBA, HBA1, HBA2, HBB, HEXA, ELP1, ASPA
Specificity
7 %
Genes
100 %

You can get up to 168 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Symptoms Checker

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