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Brain Advance Access published online on January 21, 2004
Brain, doi:10.1093/brain/awh080
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© 2004 The Guarantors of Brain

Article

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients

Isabelle Le Ber 1, Naïma Bouslam 2, Sophie Rivaud-Péchoux 3, João Guimarães 4, Ali Benomar 5, Céline Chamayou 6, Cyril Goizet 7, Maria-Ceù Moreira 8, Sandra Klur 8, Mohamed Yahyaoui 5, Yves Agid 9, Michel Koenig 8, Giovanni Stevanin 3, Alexis Brice 10, and Alexandra Dürr 11*

1 Fédération de Neurologie, Hôpital Pitié-Salpêtrière AP-HP, Paris, France; INSERM U289, Hôpital Pitié-Salpêtrière AP-HP, Paris, France
2 INSERM U289, Hôpital Pitié-Salpêtrière AP-HP, Paris, France; Laboratoire de Neurogénétique, Service de Neurologie, Hôpital des Spécialités, Rabat, Morocco
3 INSERM U289, Hôpital Pitié-Salpêtrière AP-HP, Paris, France
4 University Department of Neurology, Hospital de Egas Moniz, Lisboa, Portugal
5 Laboratoire de Neurogénétique, Service de Neurologie, Hôpital des Spécialités, Rabat, Morocco
6 Centre du Langage, Hôpital Pitié-Salpêtrière AP-HP, Paris, France
7 Service de Génétique, Centre Hospitalo-Universitaire, Bordeaux, France
8 Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/Université Louis-Pasteur, Illkirch, CU de Strasbourg, France
9 Fédération de Neurologie, Hôpital Pitié-Salpêtrière AP-HP, Paris, France; Centre d’Investigation Clinique, Hôpital Pitié-Salpêtrière AP-HP, Paris, France
10 Fédération de Neurologie, Hôpital Pitié-Salpêtrière AP-HP, Paris, France; INSERM U289, Hôpital Pitié-Salpêtrière AP-HP, Paris, France; Département de Génétique, Cytogénétique et Embryologie, Hôpital Pitié-Salpêtrière AP-HP, Paris, France
11 INSERM U289, Hôpital Pitié-Salpêtrière AP-HP, Paris, France; Département de Génétique, Cytogénétique et Embryologie, Hôpital Pitié-Salpêtrière AP-HP, Paris, France; Département de Génétique, Cytogénétique et Embryologie, Hôpital Pitié-Salpêtrière, 47, boulevard de l’Hôpital, 75651 Paris Cedex 13, France

* Corresponding author. E-mail: durr{at}ccr.jussieu.fr.

Received 22 September 2003 ; revised 21 November 2003 ; accepted 22 November 2003

Abstract

Ataxia with oculomotor apraxia type 2 (AOA2) is a newly described autosomal recessive cerebellar ataxia (ARCA) defined by genetic location to 9q34 of three families sharing gait ataxia, oculomotor apraxia and/or elevated {alpha}-foetoprotein (AFP) levels. We have evaluated 77 families with progressive non-Friedreich ARCA and have identified six families with a phenotype suggestive of AOA2. Linkage was confirmed in all six families, with a maximal lod score of 5.91 at D9S1830. We report the first detailed phenotypic study, including neuropsychological, oculographic and brain imaging investigations, in the largest series of AOA2 patients yet recruited. The mean age at onset was 15.1 ± 3.8 years. Sensory motor neuropathy (92%) and choreic or dystonic movements (44%) were frequent. Oculomotor apraxia was observed in 56% of patients and characterized by increased horizontal saccade latencies and hypometria. AFP levels were elevated in 100% of the families, making it a useful biological marker. This study shows for the first time that AOA2 can be found in Europe, North Africa and the West Indies, and its relative frequency represents ~8% of non-Friedreich ARCA, which is more frequent than ataxia telangiectasia and ataxia with oculomotor apraxia type 1 (AOA1), in our series of adult patients. In adults, AOA2 may be, therefore, the most frequent cause of ARCA identified so far, after Friedreich’s ataxia.

Keywords: cerebellar ataxia; ocular motor apraxia; AOA1; AOA2; {alpha}-foetoprotein
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