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.
Genes related to Autosomal Recessive Spastic Ataxia Of Charlevoix-saguenay
- SACS
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.
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
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JONQUIÈRE — Dr Cynthia GAGNON
Investigator of research project
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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
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Institution/s:
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JONQUIÈRE — Dr Jean MATHIEU
Clinical expert - Investigator of research project
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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
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Institution/s:
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MONTRÉAL — Dr Bernard BRAIS
Investigator of research project
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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
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Institution/s:
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MONTRÉAL — Pr Heidi MCBRIDE
Investigator of research project
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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
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Institution/s:
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MONTRÉAL — Pr Rebecca MCKINNEY
Investigator of research project
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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
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Institution/s:
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MONTRÉAL — Pr Peter MCPHERSON
Investigator of research project
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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
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Institution/s:
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MONTRÉAL — Pr Eric SHOUBRIDGE
Investigator of research project
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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
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Institution/s:
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MONTRÉAL — Pr Jason C YOUNG
Investigator of research project
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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
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Institution/s:
Autosomal Recessive Spastic Ataxia Of Charlevoix-saguenay Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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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 % |
You can get up to 52 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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