Autosomal Recessive Spastic Ataxia Of Charlevoix-saguenay

Description

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Spastic Ataxia Of Charlevoix-saguenay

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity
  • Motor delay
  • Peripheral neuropathy

And another 68 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

Autosomal Recessive Spastic Ataxia Of Charlevoix-saguenay Is also known as autosomal recessive spastic ataxia type 6, charlevoix-saguenay spastic ataxia, autosomal recessive spastic ataxia of charlevoix-saguenay, spax6, spastic ataxia 6, autosomal recessive, arsacs.

Researches and researchers

Doctors, researchs, and experts related to Autosomal Recessive Spastic Ataxia Of Charlevoix-saguenay extracted from public data.

Autosomal Recessive Spastic Ataxia Of Charlevoix-saguenay Experts map



Current Researchs and researchers

  • JONQUIÈRE — Dr Cynthia GAGNON

    Investigator of research project

    • Institution/s:
      — École de réadaptation (site Saguenay), FMSS, Université de Sherbrooke, CSSS - Centre de santé et de services sociaux de Jonquière
    • Research area/topic::

      New Emerging Team on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): from models to treatment strategies


  • JONQUIÈRE — Dr Jean MATHIEU

    Clinical expert - Investigator of research project

    • Institution/s:
      — École de réadaptation (site Saguenay), FMSS, Université de Sherbrooke, CSSS - Centre de santé et de services sociaux de Jonquière
    • Research area/topic::

      New Emerging Team on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): from models to treatment strategies


  • MONTRÉAL — Dr Bernard BRAIS

    Investigator of research project

    • Institution/s:
      — Centre Hospitalier de l'Université de Montréal
    • Research area/topic::

      New Emerging Team on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): from models to treatment strategies


  • MONTRÉAL — Pr Heidi MCBRIDE

    Investigator of research project

    • Institution/s:
      — Neuromuscular Research Group, Montreal Neurological Institute and Hospital
    • Research area/topic::

      New Emerging Team on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): from models to treatment strategies


  • MONTRÉAL — Pr Rebecca MCKINNEY

    Investigator of research project

    • Institution/s:
      — McGill University - McIntyre Medical Sciences Building
    • Research area/topic::

      New Emerging Team on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): from models to treatment strategies


  • MONTRÉAL — Pr Peter MCPHERSON

    Investigator of research project

    • Institution/s:
      — Montreal Neurological Institute and Hospital
    • Research area/topic::

      New Emerging Team on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): from models to treatment strategies


  • MONTRÉAL — Pr Eric SHOUBRIDGE

    Investigator of research project

    • Institution/s:
      — Department of Molecular Neurogenetics, Montreal Neurological Institute and Hospital
    • Research area/topic::

      New Emerging Team on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): from models to treatment strategies


  • MONTRÉAL — Pr Jason C YOUNG

    Investigator of research project

    • Institution/s:
      — Department of Biochemistry
    • Research area/topic::

      New Emerging Team on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): from models to treatment strategies



Mendelian

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Autosomal Recessive Spastic Ataxia Of Charlevoix-saguenay Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 Complete Panel Version 2 (Male).

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, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
HSP, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

RTN2, SACS, SPG11, ATL1, SPAST, SPG7, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
HSP, Supplemental Sporadic Evaluation.

By Athena Diagnostics Inc (United States).

RTN2, SACS, SPG11, ATL1, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A, L1CAM, KIF1A , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
HSP, Supplemental Recessive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, PNPLA6, SPART, SPG21, FA2H, AP5Z1, CYP7B1, ALS2, KIF1A
Specificity
12 %
Genes
100 %
HSP, Complete Recessive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, SPG11, SPG7, PNPLA6, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, CYP7B1, ALS2, KIF1A
Specificity
9 %
Genes
100 %
Ataxia, Supplemental Recessive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, TTPA, APTX, COQ8A, SYNE1, TDP1, SYT14, SIL1, FLVCR1, ANO10, MTPAP, AFG3L2, SETX, GRM1, MRE11, ATM, POLG
Specificity
6 %
Genes
100 %
Ataxia, Complete Recessive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, TTPA, APTX, COQ8A, SYNE1, TDP1, SYT14, SIL1, FLVCR1, ANO10, MTPAP, AFG3L2, FXN, SETX, GRM1, MRE11, ATM, POLG
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Symptoms Checker

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