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Published in 2021 at "Movement Disorders"
DOI: 10.1002/mds.28612
Abstract: Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) causes unique retinal abnormalities, which have not been systematically investigated.
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Keywords:
saguenay arsacs;
charlevoix saguenay;
spastic ataxia;
ataxia charlevoix ... See more keywords
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Published in 2022 at "Journal of Investigative Medicine High Impact Case Reports"
DOI: 10.1177/23247096221139670
Abstract: Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is characterized by triad of progressive cerebellar ataxia, progressive spasticity, and axonal/demyelinating peripheral neuropathy. Other manifestations include dysarthria, weakness in lower extremities and distal muscle wasting, foot deformities,…
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Keywords:
recessive spastic;
charlevoix saguenay;
ataxia charlevoix;
spastic ataxia ... See more keywords
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Published in 2017 at "Arquivos de neuro-psiquiatria"
DOI: 10.1590/0004-282x20170044
Abstract: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal…
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Keywords:
charlevoix saguenay;
ataxia;
spastic ataxia;
ataxia charlevoix ... See more keywords
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2
Published in 2023 at "Genes"
DOI: 10.3390/genes14020328
Abstract: Charcot–Marie–Tooth disease (CMT) and autosomal recessive spastic ataxia of Charlevoix–Saguenay type (ARSACS) are large heterogeneous groups of sensory, neurological genetic disorders characterized by sensory neuropathies, muscular atrophies, abnormal sensory conduction velocities, and ataxia. CMT2EE (OMIM:…
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Keywords:
charcot marie;
family;
charlevoix saguenay;
ataxia charlevoix ... See more keywords
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Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23010552
Abstract: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease that was originally discovered in the population from the Charlevoix-Saguenay-Lac-Saint-Jean (CSLSJ) region in Quebec. Although the disease progression of ARSACS may start in…
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Keywords:
charlevoix saguenay;
autosomal recessive;
ataxia;
genetics ... See more keywords