The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2. Issue 2 (27th May 2014)

• Record Type: Journal Article
• Authors: Brugger, Florian; Schüpbach, Michael; Koenig, Michel; Müri, René; Bohlhalter, Stephan; Kaelin‐Lang, Alain; Kamm, Christian P.; Kägi, Georg
• Is Part Of: Movement disorders clinical practice. Volume 1:Issue 2(2014)
• Page Start: 106
• Page End: 109
• Publication Date: 2014-05-27
• Subjects: Movement Disorders; Movement disorders -- Periodicals; Movement disorders; Periodicals; Periodicals; 616
• DOI: 10.1002/mdc3.12021
• Languages: English
• ISSNs: 2330-1619

Abstract

<abstract abstract-type="main" id="mdc312021-abs-0001"> <title>Abstract</title> <p>Ataxia with oculomotor apraxia type 2 (AOA2) is an inherited disorder caused by mutations within both alleles of the senataxin gene. First symptoms are usually recognized before the age of 30. Unlike several other autosomal recessive cerebellar ataxia syndromes, levels of alpha‐fetoprotein are nearly always elevated in AOA2 and thus narrowing down the differential diagnosis list. We present 3 video cases illustrating and expanding the clinical spectrum of AOA2, with 1 case bearing a novel mutation with cervical dystonia as the first symptom, the absence of neuropathy, and a disease onset beyond the age of 40. Furthermore, all patients were assessed by oculographic analysis, which revealed distinct patterns of oculomotor abnormalities. The clinical spectrum of AOA2 might be even broader than previously described in larger series. Oculography might be a useful tool to detect subclinical oculomotor apraxia in this disorder.</p> </abstract>