M. Yahyaoui

Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families

Fifteen Moroccan families with a phenotype resembling Friedreich Ataxia (FA) were studied. Seven families (13 patients) had the 744 del A mutation in the alpha-tocopherol transfer protein (alpha-TTP) gene, characteristic of ataxia with vitamin E deficiency (AVED). The other eight families (16 patients) had GAA expansions in the first intron of the frataxin gene. The clinical differences between the two groups differed. AVED caused by the 744 del A could be distinguished by head titubation, lower frequency of the neuropathy and slower disease progression, decreased visual activity and retinitis pigmentosa, which has also been associated with a His(101) Gln missense mutation in the alpha-TTP gene. The neurological disorder associated with vitamin E deficiency can be improved by the alpha-tocopherol treatment.

Vitamin E deficiency ataxia associated with adenoma

Vitamin E is one of the most important lipid-soluble antioxidant nutrient. Severe vitamin E deficiency (VED) can have a profound effect on the central nervous system. VED causes ataxia and peripheral neuropathy that resembles Friedreichs ataxia. We report here a patient presenting this syndrome, but also a prolactin and FSH adenoma. Both the neurological syndromes and the adenoma regressed after treatment with alpha-tocopherol. Although, the presence of the prolactinoma in this patient may not be related to his vitamin E deficiency, alpha-tocopherol treatment seems to be beneficial and might usefully be tested in patients with hypophyseal secreting other forms of adenoma.

LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson’s Disease

Background. The LRRK2 G2019S mutation is the most common genetic determinant of Parkinsons disease (PD) identified to date. This mutation, reported in both familial and sporadic PD, occurs at elevated frequencies in Maghreb population. In the present study, we examined the prevalence of the G2019S mutation in the Moroccan population and we compared the motor and nonmotor phenotype of G2019S carriers to patients with idiopathic Parkinsons disease. Methods. 100 PD patients were assessed for motor and nonmotor symptoms, current medication, and motor complication including motor fluctuations and dyskinesia. The LRRK2 G2019S mutation was investigated by direct sequencing in patients and ethnically matched controls, all of Moroccan origin. Results. Among the 100 PD Moroccan patients, 41 (41%) were carriers of the G2019S mutation. The mutation frequency was higher among probands with autosomal dominant inheritance (76%) than among sporadic ones (28%). Interestingly, G2019S mutation was also found in 5% of control individuals. Clinically, patients carrying the G2019S mutation have more dystonia (OR = 4.6, p = 0.042) and more sleep disorders (OR = 2.4, p = 0.045) than noncarriers. Conclusions. The LRRK2 G2019S prevalence in Morocco is the highest in the world reported to date. Some clinical features in G2019S carriers such as dystonia and sleep disturbances are worth noting.

Hypertension intracrânienne bénigne: Aspects cliniques et thérapeutiques

INTRODUCTION Benign intracranial hypertension (BIH) or pseudotumor cerebri is diagnosed on the basis of Dandys criteria. BIH creates an emergency situation because of the risk of lost vision. In this work, we studied retrospectively a series of 10 cases of BIH all meeting Dandys criteria. Our objective was to assess the benefit of the corticosteroid-acetazolamide combination on clinical course, especially on papiledema. METHODS Eighty-four patients were hospitalized at the neurology department (Hopital des Specialites, Rabat) over a period of 14 years (1988-2001). They were divided into three groups: forty cases of cerebral thromophlebitis, 10 cases of BIH. In the remaining 34 cases, the investigations were insufficient, so that Dandys criteria could not be verified. We studied only the 10 cases presenting with a diagnosis of BIH diagnosis complying with Dandys criteria. The patients underwent a physical examination, cerebral magnetic resonance imaging (MRI) if possible or CT scan with conventional angiography, and CSF examination with pressure measurement. We analyzed age, sex-ratio, clinical aspects and the outcome after treatment. The major criterion of outcome was the regression of papilledema. RESULTS There were 9 women and 1 man. The mean age was 24.6 8.4 years. Behcets disease was noted in 3/10 patients. The clinical features were those described in the literature. Patients were treated by corticosteroids combined with acetazolamide and CSF depletion in all cases. CSF derivation was performed in only 1 patient. Definitive blindness was noted in 2 patients at admission. A favorable course was noted in 8/10 cases, with regression of papilledema within approximately 1 month. DISCUSSION We suggest that the corticosteroid-acetazolamide combination can have a beneficial effect on papilledema in BIH. However, these results should be confirmed by a prospective, randomized, double blind controlled study.

Forme axonale de la maladie de Charcot-Marie-Tooth autosomique récessive (ARCMT2) : corrélations phénotype-génotype chez 13 familles marocaines

NEUROMEDITERRANEE V ● Forme axonale de la maladie de Charcot-MarieTooth autosomique recessive (ARCMT2) : correlations phenotype-genotype chez 13 familles marocaines A. Bouhouche, N. Birouk, H. Azzedine, A. Benomar, N. Bouslam, R. Ouazzani, E. Leguern, M. Yahyaoui, T. Chkili 1 Laboratoire de Neurogenetique, 2 Service de Neurologie, Laboratoire de Neurophysiologie, Hopital des Specialites de Rabat, BP 6220, Rabat-Instituts, Maroc. 3 U289 INSERM, Bat Nouvelle Pharmacie, Hopital de la Salpetriere, Paris, France.