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Mathieu Anheim, MD; Marie-Celine Fleury, MD; Jerome Franques, MD; Maria-Ceu Moreira, PhD; Jean-Pierre Delaunoy, PhD; Dominique Stoppa-Lyonnet, MD, PhD; Michel Koenig, MD, PhD; Christine Tranchant, MD

Arch Neurol. 2008;65(7):958-962.

Background  Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease caused by SETX mutations in 9q34 resulting in cerebellar ataxia in association with peripheral neuropathy, cerebellar atrophy on imaging, an elevated -fetoprotein (AFP) serum level, and occasional oculomotor apraxia.

Objective  To describe the clinical and molecular findings of 7 patients with a clinical presentation of AOA2 and their relatives.

Design  Case report.

Setting  Projet Hospitalier de Recherche Clinique.

Patients  Seven patients with AOA2 and their family members.

Intervention  Linkage analysis and direct sequencing of all exons of SETX were performed in all patients. Magnetic resonance imaging and electroneuromyography were performed and the patients' AFP serum levels were tested.

Results  We identified 7 patients with AOA2 from 4 unrelated families. Three novel SETX mutations were found. The clinical picture of the patients reported is fairly homogeneous and in accordance with the classic AOA2 presentation: onset from 13 to 18 years of progressive cerebellar ataxia and areflexia. Oculomotor apraxia was detected in 1 patient. Predominant axonal neuropathy and a diffuse cerebellar atrophy were found in the 4 patients tested. All patients had elevated AFP serum levels and 5 of 8 nonsymptomatic heterozygous relatives had moderately increased AFP serum levels as well.

Conclusions  Ataxia with oculomotor apraxia type 2 is a homogeneous form of cerebellar ataxia with occasional oculomotor apraxia. Most nonsymptomatic heterozygous carriers present with increased AFP serum levels.

Author Affiliations: Département de Neurologie (Drs Anheim, Fleury, Franques, and Tranchant) and Laboratoire de Diagnostic Génétique (Drs Delaunoy and Koenig), Hôpital Civil, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire, Illkirch, France (Drs Moreira and Koenig); and Service de Génétique, Institut Curie, Unité INSERM U509, Paris, France (Dr Stoppa-Lyonnet). Dr Moreira is now with the Department of Pediatrics, Division of Genetics and Developmental Medicine, University of Washington, Seattle.

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