Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
Sign Up to like & getrecommendations! 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. read more here.
Keywords: saguenay arsacs; charlevoix saguenay; spastic ataxia; ataxia charlevoix ... See more keywords
Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the SACS Gene
Sign Up to like & getrecommendations! 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,… read more here.
Keywords: recessive spastic; charlevoix saguenay; ataxia charlevoix; spastic ataxia ... See more keywords
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: charlevoix saguenay; ataxia; spastic ataxia; ataxia charlevoix ... See more keywords
Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases
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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:… read more here.
Keywords: charcot marie; family; charlevoix saguenay; ataxia charlevoix ... See more keywords