ABSTRACT
Lack of dystrophin is known to reduce several cerebral fiber systems. To investigate if the loss of fibers is progressive, we analyzed projections of the trigeminal sensory system to the red nucleus in 3, 6, and 12 month old dystrophin-deficient mdx mice. The retrograde tracer fluorogold was injected in the magnocellular part of the red nucleus, and the number of labeled neurons in the oral part of the spinal trigeminal nucleus (Sp5O) was counted. We found that the number of labeled Sp5O neurons was reduced by 50% in mdx mice compared to age-matched control mice. The number of labeled Sp5O neurons did not change significantly between 3 and 12 months neither in mdx nor in control mice. In addition, the number of labeled neurons in the interstitial system of the trigeminal nerve was reduced by 43% in mdx mice. We conclude that fiber loss did not continue beyond the age of 3 months. Our data suggest that lack of full-length dystrophin impairs neuronal migration or axonal outgrowth, or increases neuronal death during fetal or early life.
Subject(s)
Axons/metabolism , Dystrophin/genetics , Nerve Degeneration/metabolism , Red Nucleus/abnormalities , Trigeminal Nucleus, Spinal/abnormalities , Animals , Axons/ultrastructure , Brain Mapping , Cell Count , Cell Death/genetics , Disease Models, Animal , Male , Mice , Mice, Inbred C57BL , Mice, Inbred mdx , Nerve Degeneration/genetics , Nerve Degeneration/physiopathology , Nervous System Malformations/genetics , Nervous System Malformations/metabolism , Nervous System Malformations/physiopathology , Neural Pathways/abnormalities , Neural Pathways/cytology , Neural Pathways/metabolism , Red Nucleus/cytology , Red Nucleus/metabolism , Stilbamidines , Trigeminal Nerve/abnormalities , Trigeminal Nerve/cytology , Trigeminal Nerve/metabolism , Trigeminal Nucleus, Spinal/cytology , Trigeminal Nucleus, Spinal/metabolism , Wallerian Degeneration/genetics , Wallerian Degeneration/metabolism , Wallerian Degeneration/physiopathologyABSTRACT
The electroencephalograms (EEGs) of 22 patients suffering from hereditary DRPLA were studied. Epileptoform patterns were observed in 14 patients (63.6%) with epileptic seizures. The epileptoform patterns most frequently observed were those atypical spike-wave complexes. Slow wave bursts were seen in 18 patients (81.8%). Photosensitivity was revealed in six (27.3%) patients, all of whom presented progressive myoclonus epilepsy (PME) syndrome. Abnormal background activity was evident in 17 (77.3%) patients. These abnormalities in EEG were more severe in patients in the PME type than those of the A (ataxia) and AE (ataxia and epilepsy) types.
