Ataxia–telangiectasia (AT) is a progressive neurodegenerative disorder, with onset in early
childhood and a frequency of approximately 1 in 40,000 births in the United States. AT is …

Ataxia telangiectasia (AT) is one of a group of autosomal recessive cerebellar ataxias.
Presentation is usually by the age of 2 years and ataxia of both upper and lower limbs …

Transposable elements, also known as transposons, are now recognized not only as
parasitic DNA, the spread of which in the genome must be controlled by the host, but also as …

Abstract Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal
recessive ataxia. We have now identified causative mutations in 15 families, which allows us …

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 …

Many neurological conditions are caused by immensely heterogeneous gene mutations.
The diagnostic process is often long and complex with most patients undergoing multiple …

Two groups of hereditary ataxias are most relevant to humans—the autosomal recessive
ataxias and the autosomal dominant spinocerebellar ataxias. Recessive ataxias are …

Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia
(ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia …

Saccades are rapid eye movements designed to shift the fovea to objects of visual interest.
Abnormalities of saccades offer important clues in the diagnosis of a number of movement …

Ataxia with oculomotor apraxia type 2 (AOA2) is a newly described autosomal recessive
cerebellar ataxia (ARCA) defined by genetic location to 9q34 of three families sharing gait …