1/9. Neurovascular microdysgenesis in a case of Unverricht-Lundborg's disease.An 18 year old female presented with a characteristic clinical course of Unverricht-Lundborg's disease. She was treated with several antiepileptic drugs but never with phenytoin. This patient died quietly during sleep. Coronal sectioning of the fixed brain revealed a 10 mm large red-brown solid cortical-subcortical lesion in the mesial part of the right frontal lobe and a similar alteration measuring 4 mm in the centromedian nucleus of the left thalamus. Histologically the lesions displayed supernumerary irregularly oriented vessels, mainly capillaries, and, in the cortex, a markedly disturbed neuronal orientation and lamination. Numerous heterotopic nerve cells were found in the subcortical white matter, especially under the calcarine cortex. A similar vascular malformation was found in the pons. The neuropathological changes in Unverricht-Lundborg's disease have been described as non-specific atrophy of various neuronal populations, especially medial thalamic nuclei and purkinje cells. The present case shows that the same clinical picture may be associated with multiple cerebral microvascular malformations and a disturbance in neuronal migration and organization which may be more generalized than appears in light microscopical sections.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
2/9. Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics.A 36-year-old man with myoclonic epilepsy and ragged-red fibers (MERRF) died after more than 18 years of follow-up study. He was 1 of 3 affected siblings and the offspring of an affected mother, suggesting maternal transmission. At autopsy, there was neuronal loss and gliosis in the dentate nucleus of the cerebellum and in the inferior olivary nucleus. Skeletal muscle showed ragged-red fibers, and paracrystalline inclusions in mitochondria by electron microscopy. Biochemical analysis showed a generalized partial defect of cytochrome c oxidase (COX) in mitochondria isolated from all tissues, including brain, heart, skeletal muscle, kidney, and liver. The Michaelis constant (Km) for cytochrome c was abnormally low, suggesting a defect of the mitochondrially encoded subunit II of COX. Immunological studies (enzyme-linked immunosorbent assay, dot-blot, Western blot, and immunohistochemistry) showed that the holoenzyme was decreased but subunit II was decreased more than the holocomplex or the nuclearly encoded subunit IV. However, Northern and Southern blots showed that the gene for subunit II, as well as the genes for subunits I, III, IV, and VIII, were of normal size and were normally transcribed. A point mutation or a small deletion of mitochondrial dna, probably affecting the COX-II gene, may be responsible for the COX deficiency in this case of MERRF.- - - - - - - - - - ranking = 2keywords = nucleus (Clic here for more details about this article) |
3/9. Progressive myoclonic epilepsy (Unverricht type) with atypical Lafora bodies. Case report.A patient with advanced progressive myoclonic epilepsy (Unverricht type) with Lafora bodies is presented. Although the clinical history and symptoms were classical, the regional distribution of the cerebral involvement differed from the classical picture: the corpora mamillaria, the nucleus subthalamicus, and the nucleus ruber, which are normally reported to be spared, contained multiple Lafora bodies, whereas the lateral geniculate body, which is usually involved, was intact. The number of inclusions per cell, up to 25, was extremely high and correlated with the marked cortical atrophy and the prolonged clinical course. Using electron microscopy, type I and type II Lafora bodies were found, but the latter lacked the typical filamentous ultrastructure in the peripheral zone. The lack of visceral Lafora bodies in this case suggests that liver, muscle, and skin biopsies, which are widely used for the diagnosis, may lead to false negative results and cannot always replace a stereotactic brain biopsy. The differential diagnosis on polyglucosan bodies is emphasized.- - - - - - - - - - ranking = 2keywords = nucleus (Clic here for more details about this article) |
4/9. Neuropathology of myoclonus epilepsy associated with ragged-red fibers (Fukuhara's disease).The post-mortem findings are reported of two patients with myoclonus epilepsy associated with ragged-red fibers (MERRF, Fukuhara's disease), whose clinical findings have been described in detail previously. In addition to the mitochondrial myopathy, both patients had consistent lesions in the central and peripheral nervous systems: (1) degeneration of the dentatorubral and pallidoluysian systems, (2) spinal cord lesions resembling Friedreich's ataxia, and (3) degeneration of the substantia nigra, cerebellar cortex, inferior olivary nucleus, locus ceruleus, gracile and cuneate nuclei, and the pontine tegmentum. The nature and distribution of the lesions are different not only from the other mitochondrial encephalomyopathies but also from other known diseases. It is concluded that MERRF is a disease entity.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
5/9. Presenile dementia--a form of lafora disease.The autopsy findings on a 60-year-old man with progressive disturbances of gait, presenile dementia and incontinence, showed Lafora bodies in numerous ganglion cells of the cerebral cortex and in many nuclei of the brain stem. Histochemical analysis of the Lafora bodies revealed the presence of a polysaccharide-protein complex containing phosphate groups. The case closely resembled the one described by Suzuki et al. It is suggested that this type of presenile dementia may be a presenile form of lafora disease.- - - - - - - - - - ranking = 4.1406857567464keywords = ganglion (Clic here for more details about this article) |
6/9. Progressive myoclonic epilepsy, nerve deafness and spinal muscular atrophy.A boy of Finnish descent developed nerve deafness at six years of age, action myoclonus two years later, generalized myoclonic seizures when 16 years old and muscular atrophy at the age of 17 years. Bulbar palsy caused his death from inhalational pneumonia when he was 19 years old. autopsy disclosed no significant changes in the cerebral cortex, thalamus, striatum, purkinje cells or dentate nucleus. The most striking histological finding was degeneration of motor neurones in cranial nerves and anterior horns of the spinal cord, with neuroaxonal dystrophy of nucleus gracilis and cuneatus. While nerve deafness and spinal muscular atrophy have been recorded (each in different families) in association with progressive myoclonic epilepsy, the combination of these features has not previously been reported. Reasons are put forward for regarding all the system degenerations found in PME, including Unverricht-Lundborg disease (Baltic myoclonus) and the Ramsay Hunt syndrome, as variations of the same disorder.- - - - - - - - - - ranking = 2keywords = nucleus (Clic here for more details about this article) |
7/9. Quantitative analysis of intracerebral recordings in epilepsia partialis continua.A 14-year-old female with epilepsia partialis continua was explored stereo-electroencephalographically (SEEG). SEEG, EEG and EMG were recorded synchronously on a 32-channel machine and stored on magnetic tape for off-line analysis. The beginning of the myoclonus was used as trigger for the analysis of the intracerebral activity, which was analysed by averaging. Thereby the generating potentials of the jerks became evident. They had different maxima and latencies relative to the facial and hand muscles: that for m. orbicularis oculi was located in the precentral gyrus, the beginning of its positive deflection was 17 msec earlier than the muscle action potential; that for the thenar muscles had a latency of 24 msec, appeared at first in the premotor cortex and with a slight delay, but with greater amplitude in the corona radiata and capsula interna. Stimulation of the lateral area 4 elicited myoclonus which corresponded to the spontaneous one in distribution and latency. Stimulation of the thalamic VL nucleus had no effect. During deep sleep the frequency of the myoclonus was diminished. REM sleep was preceded and followed by a definite increase of jerking. The pattern, topography and latency of the generating potentials in waking and sleeping were very similar. In this way quantitative evidence of the neocortical origin of Epc is given and therefore a precise delineation of the epileptogenic focus.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
8/9. Ramsay Hunt syndrome: progressive mental deterioration in association with unusual cerebral white matter change.An autopsied case of Ramsay Hunt syndrome with progressive dementia was reported. The clinical symptoms included progressive intellectual decline, myoclonus, generalized convulsive seizure, cerebellar ataxia and positive pyramidal signs. Neuropathological examination disclosed cerebral white matter demyelination marked in the frontal lobe and fibrillary gliosis predominantly in the subcortical U-fibers, grumose degeneration in the dentate nucleus and inferior olivary nucleus lesion. The skeletal muscle showed no ragged-red fiber. The present case can be included in Ramsay Hunt syndrome because of the absence of pathological hallmark of mitochondrial encephalomyopathy and of the presence of the degenerative lesions in the olivary and dentate nucleus without cerebellar Purkinje cell loss. The intellectual decline is a result of extensive frontal white matter change, and myoclonus and ataxia are closely associated with dentate grumose degeneration. The cerebral white matter change is an unusual finding and the present case might be a variant in Ramsay Hunt syndrome.- - - - - - - - - - ranking = 3keywords = nucleus (Clic here for more details about this article) |
9/9. tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial dna mutation in a case of myoclonus epilepsy and ragged red fibres.This man with myoclonus epilepsy and ragged red fibres (MERRF) syndrome due to the tRNA(Lys) A-->G(8344) mutation of mitochondrial dna (mtDNA) died of bronchopneumonia at 18 years of age. He had progressive clinical symptoms from 6 months of age manifesting as ataxia, myoclonic seizures, and muscle weakness. A post-mortem examination revealed 91-99% mutated mtDNA in all 32 examined tissue samples, including various organs and different brain regions. The brain appeared without macroscopic changes, but microscopic examination showed degeneration with loss of nerve cells and gliosis affecting the globus pallidus, substantia nigra, red nucleus, dentate nucleus, inferior olivary nucleus, cerebellar cortex, and the spinal cord. Skeletal muscle showed cytochrome c oxidase deficient muscle fibres with proliferation of mitochondria. In addition to pathological changes of muscle and brain there were few morphological changes that could be attributed to his mitochondrial disease. These data support the concept that in patients with the tRNA(Lys) A-->G(8344) mutation who are manifesting disease there are high levels of mutated mtDNA in all tissues, but only some tissues and brain regions are vulnerable.- - - - - - - - - - ranking = 3keywords = nucleus (Clic here for more details about this article) |