There is currently no accepted classification of autosomal recessive cerebellar ataxias, a
group of disorders characterized by important genetic heterogeneity and complex …

Among the hereditary ataxias, autosomal recessive spinocerebellar ataxias comprise a
diverse group of neurodegenerative disorders. Clinical phenotypes vary from predominantly …

Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to
mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral …

Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare
neurological disorders involving both central and peripheral nervous system, and in some …

Knowledge of the genetic demography of Quebec is useful for gene map**, diagnosis,
treatment, community genetics and public health. The French‐Canadian population of …

While Friedreich's ataxia (FRDA) and ataxia telangiectasia (AT) are known to be the two
most frequent forms of autosomal recessive cerebellar ataxia (ARCA), knowledge on the …

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset
neurodegenerative disease that was originally discovered in the population from the …

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS: MIM 270550) is a
neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity …

Background The classification of autosomal recessive ataxias represents a significant
challenge because of high genetic heterogeneity and complex phenotypes. We conducted a …

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a distinct form of
hereditary early-onset spastic ataxia related to progressive degeneration of the cerebellum …