1/14. A case of Dejerine-Sottas disease with schizophrenic symptoms. A clinical and pathological study.A case of hypertrophic interstitial neuritis with a disturbance of intelligence and schizophrenic symptoms was reported. The patient, a 41-year-old male, showed monologia at the age of 14 and auditory hallucination at the age of 21. He was diagnosed as schizophrenia. Torsion of the head to the right side and muscular atrophy were also noticed at 21 years. Atrophy of the muscles progressed gradually, particularly in the distal parts of the upper and lower extremeties. Psychiatric examination revealed schizophrenic symptoms such as auditory hallucination, thought disorder, lack of spontaneity, autism, apathy, etc. There was also a disturbance of intelligence (imbecility). In neurological examination, the torsion of the head to the right side, slight exaggeration of the peripheral reflexes, muscular atrophy in the distal parts of the extremeties were noted. The bilateral ulnar nerves were markedly hypertrophied. The biopsy of the right ulnar nerve revealed a remarkable thickening of the endoneuria and "onion bulb" formations. A large amount of the interstitial accumulation of PAS positive substance, which showed metachromasia in cresyl violet staining, was also noted. Schwann cell processes were proved electron-microscopically to surround the myelin sheaths and some of them meandered and extended and into the metachromatic substance. The basement membrane of the sheath cell was hypertrophic in some portions and elongated into interstitium. The nucleus of the sheath cell was hyperchromic and showed marked atrophy. Histological examination of the biopsy specimen obtained from the gastrocnemius muscle suggested neurogenic muscular atrophy. The relationship among the hypertrophic interstitial neuritis, schizophrenic symptoms, disturbance of intelligence and torsion of the head was also discussed.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
2/14. autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology.An autopsied case of autosomal recessive hereditary spastic paraplegia with severe neurogenic muscular atrophy is described herein. This patient, a 16-year-old woman, presented with gait disturbance. She developed progressive spastic paralysis of the upper and lower limbs and mental deterioration. She became bedridden at approximately 40years of age. dysarthria worsened at 45 years of age. She died of pneumonia at 50 years of age. Her younger sister has shown similar clinical symptoms and became bedridden at 37 years of age. Their parents were second cousins. autopsy revealed a severely atrophic brain, weighing 720 g. The cerebral cortex was thin, and the white matter was extremely reduced in volume. Microscopically, neuronal loss and variable astrogliosis with diffuse spongy changes were evident at the cerebral cortex, thalamic nuclei, basal ganglia and hippocampus. The remaining neurons were atrophied with heavy deposition of lipofuscin. In the spinal cord, the pyramidal tracts as well as the dorsal spinocerebellar tracts were degenerated. In addition, marked loss of the anterior horn cells was seen. Severe neuronal loss of the nucleus gracilis was also detected. In contrast, only mild degeneration of the ventral spinocerebellar tracts and fasciulus cuneatus in the spinal cord were observed. In the frozen sections of skeletal muscle, severe neurogenic atrophy and fatty infiltration were evident. In addition, several rimmed vacuoles were observed in the atrophic fibers, and cytochrome coxidase-deficient fibers were present in part. Reduced nicotinamide adenine dinucleotide (NADH)-tetrazolium reductase reaction revealed abnormal accumulation of mitochondria around the center of the non-atrophic muscle fibers. It is suggested that an analysis of mitochondrial function of Japanese autosomal recessive hereditary spastic hemiplegia may provide additional information to clarify the pathogenesis.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
3/14. Acute isolated suprascapular nerve palsy limited to the infraspinatus muscle: a case report.Suprascapular nerve palsy resulting in isolated weakness of the infraspinatus muscle is subtle at its onset and must be differentiated from cervical radiculopathy or bone and joint diseases of the shoulder, especially in the presence of pain. The literature suggests an association of cumulative trauma with ganglionic cyst formation and entrapment neuropathy of the suprascapular nerve in the spinoglenoid notch. Here we present clinical, electrodiagnostic, and radiologic features in a young patient who presented with a 2-week history of isolated, painless weakness of the right shoulder. His electromyography showed acute denervation of the right infraspinatus muscle. magnetic resonance imaging revealed a ganglionic cyst in the spinoglenoid fossa and edema in the infraspinatus muscle consistent with denervation. The patient recovered after removal of the cyst.- - - - - - - - - - ranking = 11.314412373754keywords = ganglion (Clic here for more details about this article) |
4/14. A clinical and pathological study of a Japanese case of amyotrophic lateral sclerosis/Parkinsonism-dementia Complex with family history.This report concerns a Japanese family with neuropathological findings consistent with amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC) in the Island of guam. The proband was a 68-year-old woman with an 8-year history of parkinsonism which was followed by psychiatric symptoms and neurogenic amyotrophy 5 years after the onset. She had a family history of parkinsonism associated with dementia in all of her three siblings. They grew up in the Hobara village, a focus of amyotrophic lateral sclerosis in the Kii Peninsula of japan in their childhood. Their parents were not consanguineous nor natives of the Kii Peninsula. The brain weight was 1040 g and there were mild frontal lobe atrophy, moderate atrophy of pes hippocampi, decoloration of the substantia nigra and locus coeruleus, and atrophy of the anterior root of the spinal cord. The microscopic examinations revealed degeneration of CA1 portion of the hippocampus to the parahippocampus gyrus, substantia nigra, locus coeruleus and spinal anterior horn with Bunina bodies. The spinal pyramidal tracts also mildly degenerated. neurofibrillary tangles (NFT) were observed in the cerebral cortex, especially in the cortices from hippocampus to lateral occipitotemporal gyri, basal nucleus of Mynert, basal ganglia, thalamus, substantia nigra and widespread regions of the central nervous system through the brainstem to spinal cord including the nucleus of Onufrowitcz. In spite of a small amount of the senile plaques in the cerebral cortex and lewy bodies in the substantia nigra and locus coeruleus, abundant NFT were distributed mainly in the third layer of the cerebral cortex, which is the characteristic feature of ALS/PDC. Thus, this was likely to be an ALS/PDC case outside the guam Island. A tau mutation was not found on dna analysis.- - - - - - - - - - ranking = 2keywords = nucleus (Clic here for more details about this article) |
5/14. Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy.BACKGROUND: Neuronal intranuclear hyaline inclusion disease (NIHID), a rare neurodegenerative disease in which eosinophilic intranuclear inclusions develop mainly in neurons, has not yet been described to present as hereditary motor-sensory and autonomic neuropathy. methods: patients in two NIHID families showing peripheral neuropathy were evaluated clinically, electrophysiologically, and histopathologically. RESULTS: In both families, patients had severe muscle atrophy and weakness in limbs, limb girdle, and face; sensory impairment in the distal limbs; dysphagia, episodic intestinal pseudoobstruction with vomiting attacks; and urinary and fecal incontinence. No patients developed symptoms suggesting CNS involvement. Electrophysiologic study showed the reduced motor and sensory nerve conduction velocities and amplitudes, and also extensive denervation potentials. In sural nerve specimens, numbers of myelinated and unmyelinated fibers were decreased. In two autopsy cases, eosinophilic intranuclear inclusions were widespread, particularly in sympathetic and myenteric ganglion neurons, dorsal root ganglion neurons, and spinal motor neurons. These neurons also were decreased in number. CONCLUSION: patients with neuronal intranuclear hyaline inclusion disease (NIHID) can manifest symptoms limited to those of peripheral neuropathy. NIHID therefore is part of the differential diagnosis of hereditary motor-sensory neuropathy associated with autonomic symptoms. Intranuclear hyaline inclusions in schwann cells and in the myenteric plexus may permit antemortem diagnosis of NIHID.- - - - - - - - - - ranking = 11.314412373754keywords = ganglion (Clic here for more details about this article) |
6/14. Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family.A family with hereditary motor and sensory neuropathy (HMSN) type II is described in which 10 affected and 17 unaffected members in three generations were examined. The peak age of onset was in the second decade. In the youngest generation, the proportion of affected to unaffected individuals at risk significantly differed from the expected 50%. There was slight slowing of conduction velocities in 36% of nerves; however, only 3 out of 10 affected members had entirely normal conduction studies. The amplitude of the sensory potentials of median and peroneal nerves was almost uniformly reduced. In all affected patients electromyography of anterior tibial muscles showed signs of neurogenic involvement. Histological study of two sural nerves and a sciatic nerve and its branches revealed loss of myelinated fibres with a proximal-to-distal gradient in this fibre loss, clusters of small regenerating fibres, and atrophic axons. Postmortem study of the proband showed loss of anterior horn and dorsal root ganglion neurons in the lumbar and sacral segments and degeneration of the fasciculus gracilis. Morphometric evaluation of L5 ventral and dorsal roots revealed a normal number of myelinated fibres, diameter histograms being shifted to the left because of a significant loss of large myelinated fibres and regeneration. These anatomical findings are consistent with the hypothesis that HMSN type II represents a primary neuronopathy affecting motor and sensory neurons.- - - - - - - - - - ranking = 5.6572061868769keywords = ganglion (Clic here for more details about this article) |
7/14. Painless infraspinatus atrophy due to suprascapular nerve entrapment.A case of painless suprascapular nerve entrapment, resulting in isolated atrophy and weakness of the infraspinatus, is described. electromyography was used to confirm the clinical diagnosis. The etiology of this neuropathy ranges from trauma to overexertion of the upper extremity. Consequent entrapment most often occurs at the suprascapular or spinoglenoid notch. Local ganglionic cysts have been found compressing the suprascapular nerve. Conservative management, including "benign neglect," physical therapy, and local injections, is often effective. Surgical decompression may be indicated in refractory or posttraumatic cases.- - - - - - - - - - ranking = 5.6572061868769keywords = ganglion (Clic here for more details about this article) |
8/14. "Chromatolytic" neurons in lateral geniculate body in Werdnig-Hoffmann disease.In a case of Werdnig-Hoffmann disease, we have observed pathologic changes in the neuronal cell bodies of the lateral geniculate nucleus. These changes are similar to those seen in lower motor neurons and dorsal root ganglia. As the lateral geniculate nucleus and its projections are entirely central, this observation raises questions as to the possible etiologic role of root entry zone glial bundles in the evolution of neuronal alterations in severe spinal muscular atrophy.- - - - - - - - - - ranking = 2keywords = nucleus (Clic here for more details about this article) |
9/14. Hereditary myoclonus and progressive distal muscular atrophy.myoclonus occurs in a variety of pathological conditions, some inherited. We recently evaluated 3 members of a louisiana-texas family with an autosomal dominant disorder manifested by adult-onset, generalized, stimulus-sensitive myoclonus and slowly progressive distal muscle weakness and wasting. The analyses of cerebrospinal fluid homovanillic acid and 5-hydroxyindoleacetic acid before and after probenecid provided some evidence of impaired turnover of central dopamine and serotonin. Treatment with clonazepam resulted in complete and lasting improvement of the myoclonus. A postmortem examination in 1 member of the family revealed chiefly neuronal degeneration of the anterior horn cells, Clark's nucleus, and the lower cranial nerve nuclei. A similar syndrome has not previously been reported.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
10/14. 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) |
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