The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal
recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat …

More than 50 neurological and neuromuscular diseases are caused by short tandem repeat
(STR) expansions, with 37 different genes implicated to date. We describe the use of …

CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory
neuronopathy. Detection of RFC1 expansion is challenging and CANVAS can be associated …

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a
recessively inherited neurodegenerative disorder caused by intronic biallelic, nonreference …

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited
late-onset neurological disease caused by bi-allelic AAGGG pentanucleotide expansions …

Cerebellar and afferent ataxias present with a characteristic gait disorder that reflects
cerebellar motor dysfunction and sensory loss. These disorders are a diagnostic challenge …

Instability of simple DNA repeats has been known as a common cause of hereditary ataxias
for over 20 years. Routine genetic diagnostics of these phenotypically similar diseases still …

CANVAS is a recently characterized repeat expansion disease, most commonly caused by
homozygous expansions of an intronic (A2G3) n repeat in the RFC1 gene. There are a …