Medline ® Abstract for Reference 102
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families.
Anheim M, Fleury MC, Franques J, Moreira MC, Delaunoy JP, Stoppa-Lyonnet D, Koenig M, Tranchant C
Arch Neurol. 2008;65(7):958.
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 alpha-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.
Département de Neurologie, Hôpital Civil, 1 Place de l'Hôpital, 67091 Strasbourg, France.