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Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Neuropathology, 2006Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) was originally found among the inhabitants of the Charlevoix‐Saguenay region of Quebec, Canada. This disease is characterized by early‐onset ataxia, spasticity, peripheral neuropathy, finger and foot deformities, and hypermyelination of the retinal nerve fibers.
exaly +3 more sources
2023
Up these black waters, over a hundred miles — always strong, deep, (hundreds of feet, sometimes thousands,) ever with high, rocky hills for banks, green and gray — at times a little like some parts of the Hudson, but much more pronounc’d and defiant.
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Up these black waters, over a hundred miles — always strong, deep, (hundreds of feet, sometimes thousands,) ever with high, rocky hills for banks, green and gray — at times a little like some parts of the Hudson, but much more pronounc’d and defiant.
openaire +1 more source
Is the ataxia of Charlevoix–Saguenay a developmental disease?
Medical Hypotheses, 2011The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is considered a neurodegenerative disease caused by mutations in the SACS gene, located on chromosome 13q12.12. It is a syndrome that comprises skeletal, retinal and neurological manifestations, among which feature spasticity, cerebellar ataxia and peripheral neuropathy.
José, Gazulla +8 more
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New findings in the ataxia of Charlevoix–Saguenay
Journal of Neurology, 2011The aim of the study was to enhance our understanding of the pathogenesis of the ataxia of Charlevoix-Saguenay, based on the findings presented herein. Five patients with a molecular diagnosis of this disease underwent clinical, radiological, ophthalmologic and electrophysiological examinations.
José, Gazulla +11 more
openaire +2 more sources
2017
The city of Saguenay, in the province of Quebec, is located in an area with a hilly topography and where sensitive marine clays are predominant. The slopes throughout the city are either former riverbanks or scarps of old large retrogressive landslides and their height can vary from a few meters to dozens of meters.
Janelle Potvin +5 more
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The city of Saguenay, in the province of Quebec, is located in an area with a hilly topography and where sensitive marine clays are predominant. The slopes throughout the city are either former riverbanks or scarps of old large retrogressive landslides and their height can vary from a few meters to dozens of meters.
Janelle Potvin +5 more
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Sill Processes in the Saguenay Fjord
2020<p>The Saguenay Fjord is a 110 km long and 250 m deep (max depth) multi-silled glacial valley that connects the Saguenay River at its head with the St. Lawrence Estuary at its mouth. The bathymetry is characterized with 3 sills: a shallow 20-m deep sill at the mouth, an intermediate 60-m deep 20 km landward sill and a deep 120-m ...
Jérôme Guay +5 more
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Canadian Journal of Fisheries and Aquatic Sciences, 1983
The large difference between the alkalinity of the fresh waters of the St. Lawrence River (1.475 mmol∙kg−1) and the Saguenay River (0.134 mmol∙kg−1) was used to locate the region on the St. Lawrence estuary which is under the influence of the Saguenay River.
J. Lebel +4 more
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The large difference between the alkalinity of the fresh waters of the St. Lawrence River (1.475 mmol∙kg−1) and the Saguenay River (0.134 mmol∙kg−1) was used to locate the region on the St. Lawrence estuary which is under the influence of the Saguenay River.
J. Lebel +4 more
openaire +1 more source
Autosomal recessive spastic ataxia of Charlevoix–Saguenay
Neuromuscular Disorders, 1998A form of autosomal recessive spastic ataxia unique to the Charlevoix-Saguenay area was clinically identified 20 years ago in patients from that region. This region of Québec, Canada, was once considered a genetic isolate. First noted at gait initiation, signs of ataxia slowly progress along with spasticity of the four limbs, slurred speech, and ...
J P, Bouchard +6 more
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