1. Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene

Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene

Prof. Thomas Klopstock, MD 1 Tobias Haack, MD 2 Prof. Andreas Bender, MD 1 Prof. Arndt Rolfs, MD 3 Douglas Friday
1 Ludwig-Maximilians-University of Munich 2 University Hospital of Tübingen 3 CENTOGENE AG
April 18, 2009

J Neurol (2009) 256:1555–1557
DOI 10.1007/s00415-009-5133-3

Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia associated with mutations in the senataxin ( SETX ) gene coding for the ortholog of a yeast DNA/RNA helicase [ 7 ]. The disorder is characterized by adolescent age at onset, spinocerebellar gait ataxia, cerebellar atrophy, peripheral sensorimotor neuropathy, areflexia, elevated a -fetoprotein, saccadic ocular pursuit, and occasionally oculomotor apraxia. Mild cognitive impairment, involuntary movements, c -globulin, and creatine phosphokinase elevation may also occur [ 1 – 7 ]. Here we report the documented course over 27 years of a case of AOA2 and a novel homozygous stop mutation p.R1778X in the SETX gene.