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
Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.07.013
Abstract: Ataxia refers to a group of neurological disorders characterized by a lack of coordination during voluntary movements. One of the most commonly used tests to assess upper-limb coordination is the Archimedes spiral test. The purpose… read more here.
Keywords: computer based; ataxia; spastic ataxia; autosomal recessive ... 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
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Case Report of a Novel Nonsense Mutation in the SACS Gene
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_670_19
Abstract: Annals of Indian Academy of Neurology ¦ Volume 23 ¦ Issue 3 ¦ May-June 2020 395 3. Pothier DD, Rutka JA, Ranalli PJ. Double impairment: Clinical identification of 33 cases of cerebellar ataxia with bilateral… read more here.
Keywords: neurology; cerebellar ataxia; ataxia; spastic ataxia ... See more keywords