- 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
J Neurol (2009) 256:1555–1557
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.