[Multi-infarct disorder presenting as corticobasal degeneration (DCB): vascular pseudo-corticobasal degeneration?]. / Infarctus cérébraux multiples se présentant comme une dégénérescence cortico-basale: pseudo dégénérescence cortico-basale vasculaire?

We report on five patients with a clinical presentation of corticobasal degeneration (CBD), including gradually progressive, asymmetric, L-DOPA-resistant parkinsonism associated variously with apraxia, focal action myoclonus, focal dystonia, cortical sensory loss and alien limb phenomenon. Some patients also presented an atypical CBD clinical history or signs - notably sudden onset. The disease was however not suggestive of another diagnosis. Magnetic resonance imaging of the brain revealed extensive vascular lesions. Only five similar cases have been published to our knowledge. Although we cannot exclude underlying CBD pathology, our cases illustrate the fact that multi-infarct pathology can masquerade as CBD or alter the clinical phenotype of the disease.

[Clinical and electrophysiological features of "cortical tremor"]. / Caractéristiques cliniques et électrophysiologiques du << tremblement cortical >>.

The purpose of this paper is to draw attention to one particular variant of tremor named "cortical tremor," which corresponds to rhythmic cortical myoclonus whose principal differential diagnosis is essential tremor. Diagnosis may be established with electrophysiological explorations (electromyography, accelerometry, electroencelography with back averaging, long latency reflexes, giant somesthesic evoked potentials). Clinical and electrophysiological features of 15 patients are reported and compared to cases previously published. Association with generalized or partial seizures is possible. Other cases in the family are often mentioned with a dominant autosomal transmission. The therapeutic approach is based on the use of antiepileptic drugs.

Unusual MR findings of the brain stem in arterial hypertension.

MR imaging findings have been reported in only a few cases of severe arterial hypertension. We report two cases of severe paroxysmal arterial hypertension associated with unusual brain stem hyperintensity. The lesions improved dramatically after stabilization of blood pressure, suggesting that edema could be the main cause of the MR imaging-observed hyperintensity.

Genotypic and phenotypic analysis of the polymorphic thiopurine S-methyltransferase gene (TPMT) in a European population.

1. Characterization of allelic variants of the TPMT gene (TPMT) responsible for changes in TPMT activity, and elucidation of the mechanism by which these alleles act, are required because of the clinical importance of this polymorphism for patients receiving thiopurine drugs. 2. We defined the mutational and allelic spectrum of TPMT in a group of 191 Europeans. Using PCR-SSCP, we screened for mutation the entire coding sequence, the exon-intron boundaries, the promoter region and the 3'-flanking region of the gene. Six mutations were detected throughout the ten exons and seven TPMT alleles were characterized. Four of them, TPMT*2, *3A, *3C and *7, harbouring the known mutations, G238C, G460A, A719G or T681G, were nonfunctional and accounted for 0.5, 5.7, 0.8 and 0.3% of the allele totality, respectively. 3. Within the promoter region, six alleles corresponding to a variable number of tandem repeats (VNTR), were identified. VNTR*V4 and *V5a which harbour four or five repeats of a 17-18 bp unit, were the most frequent (55% and 34%, respectively). The other VNTR alleles, having from five to eight repeats, were rarer. 4. The TPMT phenotype was correctly predicted by genotyping for 87% of individuals. A clear negative correlation between the total number of repeats from both alleles and the TPMT activity level was observed, indicating that VNTRs contribute to interindividual variations of TPMT activity. Therefore, additional analysis of the promoter region of TPMT can improve the phenotype prediction rate by genotyping.

["Primary" orthostatic tremor. 10 clinical electrophysiologic observations]. / Tremblement orthostatique "primaire". 10 observations cliniques et électrophysiologiques.

Orthostatic tremor is an unusual kind of potentially disabiling tremor appearing immediately when standing. Clinical examination is normal in primary form except for wide base standing and unsteadiness which disappear when walking. Arm tremor resembling essential tremor is found present in one third of cases. Electrophysiological exploration is necessary for diagnosis and shows a regular rapid tremor (frequency around 16 Hz). We present 10 new cases, 3 men and 7 women, 37 to 74 years old. Unsteadiness when standing was the predominant complaint in 9 cases, the other first described pains in the lower limbs. All had visible or palpable tremor predominant in thighs. Four patients had postural arm tremor, one had neurogen syndrome in the lower limbs corresponding to toxic polyneuropathy which developed after tremor. Electromyographic study found high frequency (13-17.3 Hz) rhythmic discharge in weight-bearing muscles. Orthostatic tremor cannot be considered as a clinical variant of postural essential tremor. Its pathophysiology is unknown but the efficacy of clonazepam, primidone or barbiturates suggests the impairment of the gabaergic system.

[Favourable effect of zolpidem on catatonia]. / Effet favorable du zolpidem sur un état catatonique.

According to the literature, electroconvulsive therapy and benzodiazepines, especially lorazepam, are recommended for the treatment of catatonia. We report the case of a 56-year-old woman with catatonia resistant to electroconvulsive therapy and benzodiazepines. Treatment with zolpidem led to durable improvement. This case suggests that zolpidem should be tested in catatonia since side effects are minimal.