Cases reported "Nerve Degeneration"

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1/13. Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration.

    BACKGROUND: Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal-recessive disorder that includes microcephaly, severe mental retardation, and multiple congenital anomalies. Otologic findings are usually limited to descriptions of the auricles. PATIENT AND methods: The authors report inner ear histopathologic findings of a deceased 13-year-old patient with COFS. A histologic study of the inner ear in COFS syndrome has not yet been described. This patient was documented as having a profound bilateral sensorineural hearing loss at the age of 2 years. RESULTS: Histologic evaluation revealed accelerated neural and neuronal degeneration at the cochlear and retrocochlear levels. Remaining myelinated nerve fibers, counted in the spiral lamina, had degenerated by up to 97% when compared with normal innervation densities. Afferent nerve fibers innervating inner hair cells were completely absent, whereas medial efferent fibers to outer hair cells were found. vestibular nerve fibers were less affected. CONCLUSION: The authors report inner ear findings that differ from animal models of primary cochlear neural degeneration and that resemble the pattern of hereditary cochlear nerve degeneration reported in Friedreich's ataxia.
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2/13. Striatal degeneration and spongy myelinopathy in glutaric acidemia.

    The neuropathological findings in a 6 1/2-year-old boy with glutaric acidemia (GA) are described, and the pathology of 7 additional literature cases is briefly reviewed. Bilateral striatal degeneration and spongy change of the white matter were the salient features in this case and seem to represent the cardinal pathological features of the disease. Spongy myelinopathy was the result of intramyelinic vacuolation due to splitting of the myelin sheath along the intraperiod line, as illustrated here for the first time in GA. Based on morphological, biochemical and pharmacological data from humans and experimental animals, it is hypothesized that excitotoxin-mediated neuronal damage may account for the striatal degeneration, while toxic effect on myelin metabolism by the metabolic derangement of GA may explain the widespread white matter changes.
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3/13. Fatal familial insomnia: a model disease in sleep physiopathology.

    Fatal Familial Insomnia (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/dysphagia, ataxia). Positon emission tomography (PET) disclosed thalamic hypometabolism and milder involvement of the cortex; neuropathology severe neuronal loss in the thalamic nuclei variably affecting the caudate, gyrus cinguli and fronto-temporal cortices. Genetic analysis disclosed a mutation in the PRNP gene and FFI was transmitted to experimental animals, thus classifying FFI within the prion diseases. Rare Sporadic Fatal Insomnia (SFI) cases occur without PRNP mutation but with features similar to FFI. FFI represents a model disease for the study of sleep-wake regulation: (I) the profound thalamic hypometabolism/atrophy associated with lack of sleep spindles and delta sleep implicate the thalamus in the origin of slow wave sleep (SWS); (II) loss of SWS is associated with marked autonomic and motor hyperactivity; termed 'agrypnia excitata', this association has been proposed as a useful clinical concept representative of thalamo-limbic dysfunction; (III) lack of SWS occurs with substantial preservation of stage 1 NREM sleep, implying that the latter has mechanisms different from SWS and unaffected by thalamic atrophy; accordingly, conflating stage 1 NREM with SWS into NREM sleep is inappropriate.
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4/13. Are vestibular sensory cells preserved after destruction of Scarpa's ganglion? A study based on metastatic tumors of temporal bone.

    OBJECTIVE: The contribution of nerve fibers to the maintenance of vestibular sensory cells is a controversial issue in previous studies using animals and has not yet been studied in humans. The authors investigated this issue by observing vestibular end organs in the temporal bone of three patients in whom the internal auditory canal was infiltrated with tumor cells, and Scarpa's ganglion cells showed complete degeneration. STUDY DESIGN: Retrospective case review. SETTING: University Hospital, Department of otolaryngology. patients: Three patients with malignant metastatic temporal bone tumors. INTERVENTION: We investigated the preservative state of vestibular sensory hair cells with the Scalpa's ganglion was destructed. MAIN OUTCOME MEASURES: Maintenances of vestibular sensory hair cells. RESULTS: We found that sensory cells were intact despite the severe destruction of Scarpa's ganglion cells in two of the patients. CONCLUSION: The findings suggest that human vestibular sensory cells can be maintained for an indefinite period after denervation.
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5/13. Degeneration of cochlear neurons as seen in the spiral ganglion of man.

    A light and electron microscopic study of the spiral ganglion cells of a normal individual, a patient with Meniere's syndrome, and a patient with long-standing unilateral profound deafness was done to evaluate patterns of neural degeneration in the human inner ear. Parametric data for the normal spiral ganglion are presented and compared with the pathologic ganglia. In the ear with Meniere's syndrome, the nuclear area and axonic diameter of spiral ganglion cells were significantly smaller than in the contralateral and the normal ear. This was interpreted as evidence of neuronal degeneration in Meniere's syndrome. In the spiral ganglion of the long-standing deaf ear, there appeared to be selective preservation of large cells with no dendritic processes, contrary to the pattern of degeneration seen in the spiral ganglion of the animal.
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6/13. Primary degeneration of the granular layer of the cerebellum (Norman type). A Golgi study.

    purkinje cells, impregnated with the rapid Golgi method, in a patient with primary degeneration of the granular layer showed abnormal orientation of the perikaryon and dendrites, reduction in size of the dendritic arbor, absence of spiny branchlets, and large numbers of stubby spines and hypertrophic spines on secondary dendritic branches; stubby spines and thorn-like formations were seldom observed on the primary dendrites and perikaryon of some purkinje cells. These findings are similar to those described in the cerebellum of the homozygous weaver mutant mouse and in the cerebella of experimentally induced agranular phenocopies, thus suggesting that similar plastic changes occur in human and animal purkinje cells as a result of the absence of parallel fibres input in early developmental stages. In addition, purkinje cells in this patient showed club-shaped deformities in the distal region of primary dendrites, which were filled with radially oriented, short dendrites covered with stubby spines and hypertrophic spines. These latter structures appear to be fully impregnated asteroid bodies observed in paraffin sections.
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7/13. Bulbo-spinal lower motor neuron disease. Accumulation of neurofilaments in perikarya and axons.

    Two sporadic adult cases of bulbo-spinal lower motor neuron disease are reported. In the first patient, the disease lasted 8 months and was characterized by a bulbar onset followed by a progressive cephalocaudal involvement of the lower motor neurons in the spinal cord. In the second case of 14 months duration, the cervical spinal cord was affected at first while medulla oblongata and lower limbs were involved later on. There was a slight increase of the protein contents in the CSF. Postmortem examination confirmed the selective involvement of the lower motor neurons in medulla oblongata and spinal cord with severe loss at cervico-medullary level in case 1 and more diffuse loss in case 2, in keeping with the clinical signs. Bodian silver staining and electron microscopy showed the accumulation of neurofilaments in anterior born cells' perikarya and in proximal axonal dilatations. The nosology of the disorder and the comparison with lesions found in various types of motor neuron disease in humans and animals are discussed.
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8/13. Spinocerebellar degeneration secondary to chronic intestinal malabsorption: a vitamin e deficiency syndrome.

    Two adults are described who developed a progressive neurological disorder more than 20 years after the onset of chronic fat malabsorption. The clinical features included dysarthria, cerebellar ataxia, and prominent proprioceptive loss with depressed or absent tendon reflexes. serum vitamin E was undetectable in both cases. One patient improved clinically and electrophysiologically after oral therapy with vitamin E. The findings in these patients were similar to those in others recently reported with vitamin e deficiency associated with biliary atresia. Electrophysiological observations suggested that the human deficiency state parallels that found neuropathologically in vitamin E-deficient animals.
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9/13. canavan disease: from spongy degeneration to molecular analysis.

    Establishing the basic defect in canavan disease has led to reliable biochemical methods for the diagnosis of this disease. The isolation of the gene and identification of mutations causing canavan disease have led to the possibility of using dna methods for the diagnosis of canavan disease and for carrier detection. A surprising finding is the high carrier frequency of this gene defect among Ashkenazi Jewish people. Analysis for two mutations leads to the identification of 97% of Jewish patients with canavan disease, and screening of Ashkenazi jews is possible. N-Acetylaspartic acid has been considered to be an inert compound. The pathophysiology of canavan disease links lack of NAA hydrolysis to a severe, debilitating white matter disease. Currently, NAA is being studied in many other brain disorders, such as alzheimer disease, huntington disease, and stroke. However, the only disease with a specific defect in the metabolism of NAA is canavan disease. An animal model for canavan disease is needed to study some of the questions regarding the role of NAA in brain tissue, and for the study of therapeutic modalities, including gene therapy.
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10/13. Trial to establish an animal model of paraneoplastic cerebellar degeneration with anti-Yo antibody. 2. Passive transfer of murine mononuclear cells activated with recombinant Yo protein to paraneoplastic cerebellar degeneration lymphocytes in severe combined immunodeficiency mice.

    Passive transfer of serum IgG or mononuclear cells from peripheral blood of a patient with paraneoplastic cerebellar degeneration (PCD) to rodents was carried out in order to examine the role of anti-Purkinje cell antibody (anti-Yo antibody) present in serum and cerebrospinal fluid of PCD patients. After a single injection of IgG into mouse brain, it was taken up by purkinje cells and remained there for more than 36 h without Purkinje cell loss. Injection of PCD IgG together with complement or lipopolysaccharide-activated human macrophages or rat mononuclear cells into rat ventricles did not cause Purkinje cell loss. We also studied passive transfer of the PCD patient's lymphocytes to mice with severe combined immunodeficiency (SCID). We constructed a recombinant Yo fusion protein that has the leucine-zipper protein (Yo protein), the common epitope for anti-Yo antibody for immunizing mice, and that resulted in production of significant amounts of anti-Yo antibody. spleen cells from these Yo protein immunized mice were injected intravenously or intracerebrally into naive mice that subsequently showed no neurological symptoms or loss of purkinje cells. We conclude that the anti-Yo antibody, either in combination with or without complement or activated mononuclear cells, cannot be the sole cause of Purkinje cell loss.
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