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Severe, non X-linked congenital microcephaly with absence of the pyramidal tracts in two siblings.

In two siblings (a female and a male neonate), severe microcephaly, bilateral absence of the pyramids, severe hypoplasia of the cerebral peduncles, and dysplasia of the inferior olives was found together with microphthalmia, facial malformations and multiple contractures of the extremities. In both cases, the cerebral hemispheres otherwise showed a more or less normal gyral pattern with the insula incompletely covered by the opercula, and a tom but otherwise intact corpus callosum. In case 2, congenital cataract was also observed. The present cases can be characterized as a rapidly fatal, familial syndrome, probably transmitted as an autosomal recessive trait, and have several features in common with the Neu-Laxova syndrome. They differ in having a less severe form of microcephaly, a rather normal cytoarchitecture of the cerebral cortex, an apparently normal corpus callosum, no gross cerebellar abnormalities, and no other organ malformations. The present cases belong to a group of heterogeneous syndromes which have microcephaly, ocular and facial malformations, multiple contractures, and ichthyosis-like skin in common.

Brain↗

Effects of pyramidal tract stimulation on forelimb flexor motoneurons during fictive locomotion in cats.

To investigate spinal mechanisms of control of locomotion by the pyramidal system, we made intracellular recording from forelimb flexor motoneurons, and analyzed excitatory postsynaptic potentials (EPSPs) evoked by stimulation of the medullary pyramid during forelimb fictive locomotion in immobilized, decerebrate cats. We observed that (1) pyramidal stimulation evoked disynaptic EPSPs, (2) which were much bigger in the locomotor state than in the resting state, and that (3) the pyramidal EPSPs were rhythmically modulated, so that the facilitation occurred in the flexor-active phase. Last-order neurons mediating pyramidal effects presumably receive rhythmic input from the spinal locomotor network.

Animals↗