[Subacute paraneoplastic cerebellar degeneration with anti-neuronal antibodies and gynecological cancers. A case report of a bilateral ovarian cancer where the classic "anti-YO" antibody is associated with another antineuronal antibody]. / Dégénérescence cérébelleuse subaiguë paranéoplasique avec anticorps antineuronaux et cancers gynécologiques. A propos d'une observation révélant un cancer ovarien bilatéral où le classique anticorps "anti-YO" est associé à un autre auto-anticorps antineuronal.

Subacute paraneoplastic cerebellar degeneration (SPCD) is a cerebellar syndrome associated with an identifiable or occult carcinoma without direct involvement of the nervous system by the cancer. This subacute syndrome is due to an extensive Purkinje cell destruction by anti-Purkinje cells autoantibodies. Some of them are specific for example "anti-YO" antibodies in gynecologic cancer situations. We report the case of a 50-year-old woman who presented an ovarien carcinoma revealed by a SPCD associated to an anti-Purkinje cell autoantibody "anti-YO" and to another unidentified autoantibody. Despite the treatment of the carcinoma, the invaliding SPCD did not regress. The diagnosis of SPCD requires identification and early treatment of the carcinoma, giving the patient the best chances for cure and avoiding major neurologic effects.

[Molecular genetic study of a family with Kennedy syndrome including a symptomatic heterozygote]. / Etude génétique moléculaire d'une famille atteinte du syndrome de Kennedy avec une hétérozygote symptomatique.

Four men and one woman of the same family with Kennedy-type-bulbo-spinal amyotrophy have been followed up for 7 to 20 years. The genetic marker: insertion of repeated sequences of trinucleotide Cytosine-Adénine-Guanine described by Fischbeck and La Spada in Nature (1991), in the coding region of the androgen receptor gene, on the long arm of X chromosome, has been demonstrated here by DNA extraction and PCR amplification.

Electrophysiological study of a case of diffuse loss of sweating with segmental hyperhidrosis associated with areflexia.

Electrophysiological investigations were carried out on a 43 year-old man with segmental hyperhidrosis in three radicular territories, generalized anhidrosis elsewhere and areflexia. A recurrent labial herpetic rash and a history of sweating disorders in his grandfather were the only associated clinical data. Sympathetic skin response was found to be absent in anhidrotic territories, including the hands and feet, although it was present in hyperhidrotic territories. Peripheral adrenergic sympathetic fibers evaluated by photoplethysmography were normally responsive, as were visceral vegetative regulations involved in cardiovascular control during postural changes or exercise. The present case is compared to the previously described Ross Syndrome, associating segmental hypohidrosis, areflexia and tonic pupils. Our results and observations in the literature are consistent with the occurrence of lesions affecting postganglionic cholinergic fibres of the sympathetic system.