Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a rare disorder with an unknown etiology. We present a British family with presumed autosomal dominant CANVAS with incomplete penetrance and variable expressivity. Exome sequencing identified a rare missense variant in the ELF2 gene at chr4:g.140058846 C > T, c.10G > A, p.A4T which segregated in all affect...

Although AOA1 (ataxia oculomotor apraxia1) is one of the most common causes of autosomal recessive cerebellar ataxias in Japanese population, it is reported from all over the world. The clinical manifestations are similar to ataxia telangiectasia in which non-neurological manifestations are absent and include almost 10% of autosomal recessive cerebellar ataxias. Dysarthria and gait disorder are...

Degenerative ataxias are a common form of neurodegenerative disease that affect about 20 individuals per 100,000. The autosomal dominant spinocerebellar ataxias (SCAs) are caused by a variety of protein coding mutations (single nucleotide changes, deletions and expansions) in single genes. Affected genes encode plasma membrane and intracellular ion channels, membrane receptors, protein kinases,...

Case presentation: Female patient, 4 years old, cousin parents. Normal development up to 3 when seizures started as cephalic and ocular versions, labial commissure myoclonus, left upper limb flexion lower extension, lasting 5–6 minutes, in addition atonic crises. An electroencephalogram showed paroxysms the right temporal region, a brain magnetic resonance imaging cerebellar atrophy. Treatment ...

BACKGROUND AND OBJECTIVES Cerebellar ataxias are disabling disorders that impact the quality of life of patients. In many cases, an effective treatment is missing. Despite the increasing knowledge on the pathogenesis of cerebellar disorders including genetic aspects, there is currently a gap in the therapeutical management of cerebellar deficits. Cerebellar ataxia associated with ANO10 mutation...

2008;70;810-812 Neurology A. Serra, K. Liao, S. Martinez-Conde, L. M. Optican and R. J. Leigh MEMANTINE SUPPRESSION OF SACCADIC INTRUSIONS IN HEREDITARY ATAXIA BY This information is current as of March 3, 2008 http://www.neurology.org/cgi/content/full/70/10/810 located on the World Wide Web at: The online version of this article, along with updated information and services, is All rights reser...

Since the first description of immune-mediated cerebellar ataxias (IMCAs) by Charcot in 1868, several milestones have been reached our understanding this group neurological disorders. IMCAs diverse etiologies, such as gluten ataxia, postinfectious cerebellitis, paraneoplastic degeneration, opsoclonus myoclonus syndrome, anti-GAD and primary autoimmune ataxia. The cerebellum, a vulnerable target...