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.

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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

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



Mendelian

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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 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Symptoms Checker

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