Fragile X-associated Tremor/ataxia Syndrome

Incidence and onset information

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 Panel complete gene list RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK, TGM1, TH, TTPA, UBE3A, UGT1A1, USH1C, USH2A, CLRN1, WAS, MCOLN1, NPHS2, CDH23, PCDH15, CAPN3, CBS, HPS3, LRPPRC, RTEL1, MLC1, DCLRE1C, ADA, CFTR, CHAT, POMGNT1, CHRNE, SUMF1, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, ADAMTS2, COL4A3, CPT1A, ETHE1, CPT2, GNE, MMACHC, TMEM216, CTNS, CTSK, CYBB, CYP1B1, CYP27A1, BBS10, DOK7, DBT, DHCR7, DLD, DMD, GNPTAB, DPYD, AGA, AGL, EIF2B5, AGXT, FAH, FANCC, FKTN, FH, FMR1, ALDH3A2, G6PC, G6PD, SLC37A4, GAA, GALC, GALT, ALDOB, GBA, GCDH, GJB2, GJB6, GLB1, GLDC, ALPL, GRHPR, AMT, HADHA, HBA1, HBA2, HBB, HEXA, HEXB, HMGCL, HSD17B4, IDUA, ABCC8, ELP1, IL2RG, ABCD1, IVD, LAMA3, LAMB3, LAMC2, MAN2B1, MECP2, ARSA, MPI, MPL, ASL, MTTP, ASPA, ASS1, MYO7A, NBN, NEB, NPC1, NPHP1, NPHS1, ATM, OCRL, OTC, PAH, PC, PCCA, PCCB, ATP7B, SLC26A4, PEX1, PEX7, ACADM, PHGDH, SERPINA1, PKHD1, PLA2G6, PMM2, POLG, ACADVL, PPT1, PROP1, BBS1, BBS2, PTS, PEX2, BCKDHA, RAPSN, BCKDHB Close 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 Panel complete gene list BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC, FKTN, FMR1, G6PC, GALT, GBA, HEXA, ABCC8, ELP1, MPL, MTTP, ASPA, NEB, ATP7B, PHGDH, PKHD1, PMM2, BBS2, PEX2, BCKDHB Close 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 %

Sources and references

You can check the following sources for additional information.

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