1/127. A non-familial Huntington's disease patient with grumose degeneration in the dentate nucleus.We report a non-familial Huntington's disease (HD) patient presenting with increased levels of protein and IgG in his cerebrospinal fluid (CSF), antineuronal antibody in his serum and CSF, Purkinje cell and granule cell degeneration in the cerebellum, and grumose degeneration in the dentate nucleus, in addition to typical HD findings. This patient showed an expanded CAG repeat in the HD gene, and provides new information on the clinical and neuropathologic varieties of HD.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
2/127. Clinicopathological study of an autopsy case with sensory-dominant polyradiculoneuropathy with antiganglioside antibodies.A previously reported patient presenting sensory-dominant neuropathy with antiganglioside antibodies, bound preferentially to polysialogangliosides including GD1b, was autopsied. While axonal degeneration was predominant in the sural nerve, many demyelinated fibers were present in the spinal roots. Dorsal roots had undergone significant damage. These pathological findings were well correlated with the electrophysiological results showing decreased F-wave conduction velocities and conduction blocks in motor nerves and decreased or absent sensory action potentials in sensory nerves, with distribution of GD1b in nerve tissues such as dorsal root ganglia and paranodal myelin in the ventral and dorsal roots.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
3/127. Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation.OBJECTIVE: To report neuropathologic features of argyrophilic inclusions in the anterior horn cells, motor cortex Betz cells, and neurons of the medullary reticular formation, spinal posterior horn, and Clarke column in a Japanese case of familial amyotrophic lateral sclerosis with I113T substitution in exon 4 of the copper-zinc superoxide dismutase (SOD1) gene. methods AND RESULTS: These inclusions were stained pale pink on the hematoxylin-eosin stain and dark on the Bielschowsky stain. They were positive for antibodies to phosphorylated neurofilaments, ubiquitin, and SOD1. On electron microscopy, they consisted of abundant intermediate filaments of 10 to 20 nm in diameter with disordered array indicating neurofilaments. CONCLUSION: These findings suggest that the I113T mutation induces accumulation of neurofilaments and SOD1 in the central nervous system neurons.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
4/127. subacute combined degeneration of the spinal cord.This paper describes the clinical history of an adult male who was found to be suffering from subacute combined degeneration of the spinal cord. It is believed that this is the first report of this condition in papua new guinea.- - - - - - - - - - ranking = 5keywords = spinal (Clic here for more details about this article) |
5/127. Clinical and cerebral FDG PET scan in a patient with Krabbe's disease.A 2-year, 6-month-old Saudi male with infantile Krabbe's disease was studied with fluorine-18-labeled-2-fluoro-2-deoxyglucose positron emission tomography (FDG PET) scan. The patient presented with a gradual loss of developmental milestones, irritability, and crying. At the advanced stage of the disease, he developed tonic-clonic seizures and became a microcephalic, extremely irritable, blind, spastic quadriplegic child, with no deep tendon reflexes. Laboratory studies revealed normal blood chemistry, muscle enzymes, very long chain fatty acids, and acylcarnitines. No abnormal urinary organic acids were detected. The cerebrospinal fluid protein concentration was increased. magnetic resonance imaging of the brain revealed mild brain atrophy and white matter disease mainly in the centrum semiovale. electroretinography was normal; however, electroencephalography and visual-evoked potentials were abnormal. Peripheral nerve conduction studies documented a demyelinating neuropathic process. The FDG PET study of the brain demonstrated a marked decrease in the metabolism of the left cerebral cortex and no uptake in the caudate heads. Normal glucose uptake was observed in the thalami, lentiform nuclei, and cerebellum. The patient did not present for subsequent clinic visits and is presumed dead.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
6/127. Intramedullary schwannoma of the spinal cord. A case report and review of the literature.A 9-year-old boy presented with the numbness in both arms and hands, and neck stiffness. On examination, he had a slight quadriparesis and restricted neck movements. There were no signs of von Recklinghausen's disease. magnetic resonance imaging (MRI) scan disclosed a gadolinium enhanced intramedullary tumor located at C6-T1 associated with syringomyelia. C6-T1 laminectomies were performed and the intramedullary tumor was totally removed by a microsurgical technique. Postoperative course was uneventful. The pathological examination revealed an intramedullary schwannoma. The occurrence of intramedullary schwannoma in a patient without signs of von Recklinghausen's disease is extremely rare. We have been able to find 57 cases of intramedullary schwannoma reported in the literature. Intramedullary schwannomas are usually seen in males. The ages of the patients ranged from 9 to 75 years (mean 40.44 years). Only 4 cases in the pediatric age group have been reported. The duration of symptoms ranged from 3 months to 20 years (mean 31.03 months). Symptoms and signs varied with the location of tumor. The vertebral levels of intramedullary schwannomas were usually cervical (61%). MRI has been the choice of diagnostic tool in the cases reported since 1986. The majority of the cases showed either a partial or complete recovery in the postoperative period.- - - - - - - - - - ranking = 4keywords = spinal (Clic here for more details about this article) |
7/127. Neuronal loss in Onuf's nucleus in three patients with progressive supranuclear palsy.Disorders of micturition have been reported only sporadically in patients with progressive supranuclear palsy (PSP). We report the results of a clinicopathological study of 3 patients with a definite diagnosis of PSP at various stages of their illness with sphincter abnormalities. electromyography of the sphincter muscles was performed in all 3 patients and was abnormal in 2. Morphological and morphometric evaluation of Onuf's nucleus in the sacral spinal cord, which is involved in sphincter control, showed severe cell loss, presence of neurofibrillary tangles, neuropil threads, and glial inclusions. We conclude that bladder dysfunction and abnormal sphincter electromyographic results are due to pathological changes in Onuf's nucleus, and we propose that sphincter abnormalities should be included in the list of possible symptoms of PSP.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
8/127. Inexcitability of nerves in a fulminant case of guillain-barre syndrome.A 45-year-old woman presented with a recent sensorimotor deficiency in all 4 limbs, and the next day she was totally paralyzed. A slight motor improvement began on day 27. The cerebrospinal fluid had normal cellularity, but the protein varied from 90 mg/dL on the first day to 800 mg/dL on day 15, and then 290 mg/dL on day 33. Electrophysiologic studies performed on days 15 and 23 revealed a universal peripheral nerve inexcitability. A superficial peroneal nerve biopsy was performed on day 23. Nine fascicles were examined on semi-thin sections and myelinated fiber damage varied greatly from one fascicle to another. At ultrastructural examination, certain axons were severely damaged, but the others were quite well preserved and were naked or wrapped in a myelin sheath presenting a multivesicular degeneration. A few fibers had a better-preserved myelin sheath that was sometimes dissociated by elongated processes from an invading histiocyte. Six cases of fulminant guillain-barre syndrome with inexcitability of nerves and ultrastructural examination of nerve fragments have been reported. Electrophysiologic study is often ambiguous and cannot determine the precise origin of such an axonal degeneration. Therefore, ultrastructural analysis of a nerve biopsy is mandatory in this setting.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
9/127. A histopathological analysis of the human cervical spinal cord in patients with acute traumatic central cord syndrome.STUDY DESIGN: We have applied conventional histochemical and morphometric techniques to study the changes within the human spinal 'hand' motor neuron pool after spinal cord injury in patients who presented with acute traumatic central cord syndrome (ATCCS). OBJECTIVE: To determine whether a reduction of large alpha motor neurons at the C7, C8 and T1 spinal cord levels underlies the mechanism which causes hand dysfunction seen in patients with (ATCCS). BACKGROUND: The etiology of upper extremity weakness in ATCCS is debated and injury and/or degeneration of motor neurons within the central gray matter of the cervical enlargement has been advanced as one potential etiology of hand weakness. methods: The spinal cords of five individuals with documented clinical evidence of ATCCS and three age-matched controls were obtained. The ATCCS spinal cords were divided into acute/sub-acute (two cases) and chronic (three cases) groups depending on the time to death after their injury; the chronic group was further subdivided according to the epicenter of injury. We counted the motor neurons using light microscopy in 10 randomly selected axial sections at the C7, C8 and T1 spinal cord levels for each group. We also analyzed the lateral and ventral corticospinal tracts (CST) in all groups for evidence of wallerian degeneration and compared them to controls. RESULTS: A primary injury to the lateral CST was present in each case of ATCCS with evidence of wallerian degeneration distal to the epicenter of injury. There was minimal wallerian degeneration within the ventral corticospinal tracts. In the chronic low cervical injury group, there was a decrease in motor neurons supplying hand musculature relative to the other injury groups where the motor neurons sampled at the time of death were not reduced in number when compared to the control group. CONCLUSIONS: We hypothesize that hand dysfunction in ATCCS can be observed after spinal cord injury without any apparent loss in the number of motor neurons supplying the hand musculature as seen in our acute/sub-acute (n=2) and our chronic high injury (n=1) groups. The motor neuron loss seen in the chronic low level injury was felt to be secondary to the loss of C7, C8, and T1 neurons adjacent to the injury epicenter.- - - - - - - - - - ranking = 13keywords = spinal (Clic here for more details about this article) |
10/127. Autosomal recessive spastic paraplegia with hypoplastic corpus callosum, multisystem degeneration and ubiquitinated eosinophilic granules.We report a 48-year-old woman with familial spastic paraplegia (FSP) showing mental retardation, amyotrophy and sensory disturbance. Her parents were second cousins and there were two other affected siblings in the family. autopsy revealed degenerative lesions characterized by neuronal loss and gliosis in the upper and lower motor neuron systems, thalamus, lateral geniculate body, dentate nucleus and posterior column of the spinal cord. The remaining neurons often contained ubiquitinated lipofuscin granules. Although the corpus callosum was severely attenuated, it exhibited well-preserved myelination and only minimal gliosis. In the substantia nigra, the number of pigmented neurons was apparently low, but there was slight gliosis and no extraneuronal free melanin pigment in the background. The neurons in this brain region contained much smaller amounts of melanin pigment than might be expected for the patient's age. These findings suggest that this is an example of a family with autosomal recessive FSP with thin corpus callosum, and that maldevelopment of the corpus callosum and substantia nigra is a characteristic feature of the disease.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
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