Search engine for discovering works of Art, research articles, and books related to Art and Culture
Javascript must be enabled to continue!
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
View through CrossRef
SUMMARY:A new syndrome of autosomal recessive spastic ataxia has been isolated in the Charlevoix-Saguenay region of Quebec. This syndrome is remarkably homogeneous and includes: spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxia, absence of sensory evoked potentials in the lower limbs, retinal striation reminiscent of early Leber's atrophy and the frequent presence (57%) of a prolapse of the mitral valve. Biochemically, many cases show impaired pyruvate oxidation, others have hyperbilirubinaemia and some have low serum β-lipoproteins and HDL apoproteins. These features are similar to those found in trypical Friedreich's ataxia.
Cambridge University Press (CUP)
Title: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Description:
SUMMARY:A new syndrome of autosomal recessive spastic ataxia has been isolated in the Charlevoix-Saguenay region of Quebec.
This syndrome is remarkably homogeneous and includes: spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxia, absence of sensory evoked potentials in the lower limbs, retinal striation reminiscent of early Leber's atrophy and the frequent presence (57%) of a prolapse of the mitral valve.
Biochemically, many cases show impaired pyruvate oxidation, others have hyperbilirubinaemia and some have low serum β-lipoproteins and HDL apoproteins.
These features are similar to those found in trypical Friedreich's ataxia.
Related Results
LINKAGE TO CHROMOSOME 13Q11‐12 OF AN AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA IN A TUNISIAN FAMILY
LINKAGE TO CHROMOSOME 13Q11‐12 OF AN AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA IN A TUNISIAN FAMILY
OBJECTIVE: To report the clinical findings and the genetic linkage mapping of an autosomal recessive cerebellar ataxia associated to peripheral neuropathy, showing an early onset c...
Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases
Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases
Charcot–Marie–Tooth disease (CMT) and autosomal recessive spastic ataxia of Charlevoix–Saguenay type (ARSACS) are large heterogeneous groups of sensory, neurological genetic disord...
Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix‐Saguenay in northeastern Quebec
Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix‐Saguenay in northeastern Quebec
AbstractAutosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is a disorder that has an elevated frequency in Saguenay‐Lac‐St‐Jean (SLSJ) and Charlevoix, two geographi...
Inherited Ataxias
Inherited Ataxias
The inherited ataxias are disorders that cause progressive imbalance as a result of pathology in the cerebellum and its various connecting pathways. Autosomal recessive ataxias inc...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an extremely rare disease in countries other than Canada. We presented the clinical data and magnetic resonanc...
Connectivité entre les populations du fjord du Saguenay et celles du golfe du Saint-Laurent
Connectivité entre les populations du fjord du Saguenay et celles du golfe du Saint-Laurent
L’analyse des marqueurs microsatellites et d’allozymes chez différentes espèces de poissons de fond (morue, flétan du Groenland et sébaste) et de crustacés (crabe des neiges et cre...
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia
AbstractAutosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early‐onset, spastic ataxia and peripheral ne...
Documenting manifestations and impacts of recessive ataxia to develop patient-reported outcome.
Documenting manifestations and impacts of recessive ataxia to develop patient-reported outcome.
Abstract
Background. Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of cerebell...