Applicability of Neuropsychological and Psychometric Tests in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
نویسندگان
چکیده
منابع مشابه
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
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...
متن کاملAutosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
BACKGROUND Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), have been identified as a frequent cause of recessive early-onset ataxia around the world. Here we aimed to enlarge the spectrum of SACS mutations outside Quebec, to establish the pathogenicity of novel variants, and to expand the clinical and imaging phenotype. METHODS Sequencing of S...
متن کاملAutosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Clinical, Radiological and Epidemiological Aspects
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (OMIM #270550) was originally found among inhabitants of the Charlevoix-Saguenay region of Quebec (Bouchard et al., 1978). ARSACS patients in Quebec show uniform phenotypes characterized by early-onset spastic ataxia, peripheral neuropathy, retinal hypermyelination, hand or foot deformities, and normal mentality. In 2000, the SA...
متن کاملAutosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late-infantile onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Several ARSACS cases have been reported outside Canada in recent decades. This is the first report of typical clinical and neuroimaging features in a B...
متن کاملA novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder with symptoms of spastic ataxia, neuropathy, pyramidal sign, finger and foot deformities, and hypermyelination of retinal nerve fibers. SACS is mutated in ARSACS. The clinical diversity of ARSACS is recognized, which sometimes makes its diagnosis difficult. By using homozygosity mapping...
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ژورنال
عنوان ژورنال: Neuropsychologie clinique et appliquée
سال: 2018
ISSN: 2561-262X,2561-2611
DOI: 10.46278/j.ncacn.20180622