Abstract Early onset cerebellar Ataxia (EOAc) comprises a large group of rare
heterogeneous disorders. Determination of the underlying etiology can be difficult given the …

Establishing a molecular diagnosis of autosomal recessive cerebellar ataxias (ARCA) is
challenging due to phenotype and genotype heterogeneity. We report the validation of a …

Objective Differential diagnosis of autosomal recessive cerebellar ataxias can be
challenging. A ranking algorithm named RADIAL that predicts the molecular diagnosis …

Objectives Early onset ataxia (EOA) concerns a heterogeneous disease group, often
presenting with other comorbid phenotypes such as myoclonus and epilepsy. Due to genetic …

Nearly a thousand mutations mapping to 60 different loci have been identified in cerebellar
ataxias. However, almost 50% of the cases remain genetically uncharacterized and there is …

Establishing a molecular diagnosis in patients with progressive ataxia is often challenging
due to significant genetic and clinical heterogeneity and requires a methodical approach …

Sporadic late onset cerebellar ataxia is a well-described clinical presentation with a broad
differential diagnosis that adult neurologists should be familiar with. However, despite …

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

Background Despite recent progress in the field of genetics, sporadic late-onset (> 40 years)
cerebellar ataxia (SLOCA) etiology remains frequently elusive, while the optimal diagnostic …

The clinical management of cerebellar ataxia is challenging, mainly because ataxia is a
symptom of many neurological diseases. Many types of ataxia disorders are genetic and …