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11/49. Spinocerebellar degeneration with slow eye movements and abducens nerve palsy.

    A 51-year-old woman with spinocerebellar degeneration manifested an unusual disorder of eye movements. She presented with bilateral abducens palsy and slow eye movements in the horizontal plane. Slow eye movements typically are seen with supranuclear lesions, whereas abducens palsies are of nuclear or infranuclear origin. This unique combination of eye movement disorders is discussed, as well as other features of ophthalmoplegias associated with spinocerebellar degeneration.
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ranking = 1
keywords = nerve
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12/49. Ultrastructure of rectal biopsy specimens in unusual familial ataxia with cerebrospinal fluid abnormality.

    The ultrastructure of rectal biopsy specimens from a 60-year-old woman of unusual familial ataxia with cerebrospinal fluid abnormality was investigated. She had two male siblings similarly affected and a close consanguinity in the family. Meissner's plexus neurons, schwann cells, fibroblasts and smooth muscle cells within the rectum contained intracytoplasmic eosinophilic inclusions (IEIs) with or without intensely eosinophilic granules. Ultrastructurally the IEIs were composed of a membrane-bound, fine granular material with or without dense cores. The IEIs resembled intracytoplasmic inclusions seen in various cells of the central nervous system from a male autopsied sibling. The clinically and morphologically similar finding in the two siblings suggests an autosomal recessive inherited metabolic disorder previously unreported.
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ranking = 2.7010848800499
keywords = nervous system
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13/49. diagnosis of familial amyloidotic polyneuropathy in france.

    Two cases of familial amyloidotic polyneuropathy (FAP) in a French family are reported. Clinical onset was in the fifth and sixth decades with decreased sensation in the lower limbs followed by involvement of the upper extremities. Motor changes appeared later and evolved to restrict ambulation. Cardiac involvement with congestive heart failure and arrhythmias was the cause of death. dna analysis was performed on ten members of this family. Restriction enzyme analysis of amplification products of exons 2, 3 and 4 of the prealbumin gene were negative for the methionine-30, alanine-60 and serine-84 mutations but positive for the tyrosine-77 mutation. The tyrosine-77 prealbumin mutation was first described in a family from illinois with origin in germany. The discovery of the tyrosine-77 gene in the family from Picardy may help to determine the origin of this disease and tell us if one mutation has been spread around the world, as we suspect, with many kindreds having the methionine-30 gene, or whether there have been separate spontaneous mutational events, perhaps a peculiarity of this site in the prealbumin gene.
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ranking = 42.358957488362
keywords = neuropathy
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14/49. giant axonal neuropathy and leukodystrophy.

    An 11-year-old Persian boy, born to consanguineous parents, manifested a progressive gait abnormality beginning at 5 years of age. A severe cerebellar disorder developed with associated dysfunction of the peripheral nervous system, but no sign of mental impairment. The sensory and motor nerve conduction velocities were greatly reduced, especially in the lower extremities. cerebrospinal fluid protein was normal. Computed tomography and magnetic resonance imaging revealed leukoencephalopathy, especially in the cerebellum, but also in periventricular areas. The diagnosis of giant axonal neuropathy was established by biopsy of the sural nerve. The few previous histologic examinations have documented hyperplasia of the microfibrils which accumulate in the axons as well as in neurilemma, endothelial, and perineural cells. This is the first report of involvement of supraspinal portions of the central nervous system documented by postmortem examination after in vivo imaging methods corroborated the morphologic concomitants of the clinical symptoms.
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ranking = 527.29631018488
keywords = peripheral nervous system, peripheral, neuropathy, nervous system, nerve
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15/49. family with dominantly inherited ataxia, amyotrophy, and peripheral sensory loss. Spinopontine atrophy or Machado-Joseph Azorean disease in another non-Portuguese family?

    A family of German extraction with progressive ataxia, eye movement abnormalities, peripheral sensory loss, and spinal muscular atrophy of adult onset is described. Three members came to autopsy, and neuropathologically, the major changes included varying degrees of atrophy of the basis pontis and degeneration of the spinocerebellar tracts, Clarke's columns, anterior horn neurons, and fasciculus gracilis. The dentate nucleus was spared, and there was slight neuron loss from the substantia nigra in one patient. Clinically and neuropathologically, our family resembles that reported by Boller and Segarra as having spinopontine atrophy. However, several kindreds with similar findings have recently been described as having Azorean or machado-joseph disease in non-Portuguese families. Comparison of clinical and neuropathological features in spinopontine atrophy and machado-joseph disease, both in Portuguese and non-Portuguese families, reveals clinical and pathological similarities and differences between the two. The major differences in our patients include only minor extraocular movement abnormality and absence of protuberant eyes, and muscular rigidity clinically, and the sparing of the substantia nigra and the dentate nucleus neuropathologically. These differences suggest that spinopontine atrophy, as manifested in our family, is distinct from machado-joseph disease. Our family showed no linkage to the HLA locus on chromosome 6.
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ranking = 45.269460475779
keywords = peripheral
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16/49. Further postmortem examination of a case of familial ataxia with cerebrospinal fluid abnormality: an electron microscopic study of the intracytoplasmic eosinophilic inclusion bodies in the central nervous system.

    As reported previously, the peculiar intracytoplasmic eosinophilic inclusion bodies (IEIBs) extensively appeared in the autopsied brain tissue from a 49-year-old man having familial ataxia with cerebrospinal fluid abnormality, and histochemically showed abundant proteins, but few lipids and carbohydrates. Ultrastructurally, many membrane-bound vacuoles derived from the distended cisterns of rough-surfaced endoplasmic reticulum (RER) appeared in the neurons. They were filled with fine granular, less dense materials. The IEIBs, shown as a homogeneous dense core, were found in some of the vacuoles. Similar vacuoles also appeared in astrocytes, oligodendrocytes, vascular pericytes, ependymal and choroidal epithelial cells. It is suggested that the vacuoles result from the accumulation of metabolic products in the distended RER cisterns of the cells in the central nervous system, presumably representing a genetically determined functional abnormality of the RER in protein synthesis and/or transport.
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ranking = 13.505424400249
keywords = nervous system
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17/49. A large Japanese family with machado-joseph disease: clinical and genetic studies.

    A large Japanese family with probable machado-joseph disease (MJD) is described. Detailed neurological examination in 12 patients from 3 generations revealed variable combinations of cerebellar ataxia, ocular paresis, difficulty in eye-lid opening, bulging eyes, facial "myokymia", facial dystonia, pyramidal signs, extrapyramidal signs, and peripheral neuropathy. Mode of inheritance was in all likelihood autosomal dominant. blood components were typed for 19 conventional chromosome markers. Although association of the affected members with the PGM1 system was high, linkage analysis failed to reveal any markers studied with a lod score higher than 3. The unique constellation of symptoms appeared sufficient to rule out other types of spinocerebellar degeneration. When there is a typical case in a given family, MJD appears to be a clinically recognizable entity.
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ranking = 83.435949478828
keywords = peripheral neuropathy, peripheral, neuropathy
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18/49. Type III machado-joseph disease in a Japanese family: a clinicopathological study with special reference to the peripheral nervous system.

    The clinical and pathological findings in a 58-year-old Japanese man suffering from type III machado-joseph disease are reported. The patient became affected at the age of 50 years and presented cerebellar ataxia, progressive external ophthalmoplegia and muscular atrophy, although extrapyramidal signs were never detected throughout the whole course of his disease. His mother, sister and son presented progressive ataxia in the third or fourth decade. The mode of inheritance is considered to be autosomal dominant. Pathological examination revealed severe involvement of the dentato-rubral, ponto-cerebellar and subthalamopallidal systems, spinocerebellar tracts and Clarke's column, cranial motor nuclei including the oculomotor systems and anterior horn cells. The involvement of the substantia nigra was relatively mild, and the nerve cells in the inferior olivary nucleus were well preserved. The distal portion of peripheral nerves was severely damaged. Although the striking feature of machado-joseph disease is a considerable variability in the individual clinical expression, there have not been many autopsied cases of this disease and efforts to clarify the clinico-pathological correlation in each phenotype have scarcely been made. Relatively mild changes in the substantia nigra and severe involvement of the peripheral nervous system, as in our case, may be the pathological hallmarks of the type III disorder.
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ranking = 2422.9556206886
keywords = peripheral nervous system, peripheral, peripheral nerve, nervous system, nerve
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19/49. A case report of chediak-higashi syndrome complicated with systemic amyloidosis and olivo-cerebellar degeneration.

    The histopathological observations in the case of a 24 year old woman with chediak-higashi syndrome are described. There were characteristic features of cytoplasmic giant granules in various cells and lymphohistiocytic infiltration in various tissues. Amyloid deposits, which have not been reported previously in human chediak-higashi syndrome, were systemically noted and were immunohistochemically revealed to be AA type protein. Another rare complication, olivo-cerebellar degeneration, was observed in the central nervous system not associated with lymphohistiocytic infiltration. These complications may develop in long surviving patients with chediak-higashi syndrome.
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ranking = 2.7010848800499
keywords = nervous system
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20/49. Familial ataxia with abnormal CSF, with special reference to an autopsy case from three affected siblings.

    We report here the clinical features of 3 affected siblings and neuropathological findings of the CNS from an autopsied case among them. Their common clinical features consisted of cerebellar ataxia and tremors through movements and postures. Two of the 3 siblings showed autonomic abnormalities, hard-of-hearing, pyramidal sign and areflexia. Then they always had xanthochromia and an elevated protein without pleocytosis in their CSFs. Neuropathologically, intracytoplasmic eosinophilic inclusion bodies were found in the neurons of some restricted nuclei or nerve cell groups of the brain stem, cerebellum and spinal cord. Similar bodies appeared also in glial, ependymal and choroid plexus epithelial cells. Such eosinophilic bodies are thought to consist of protein-rich substances from histochemical properties, and result from an unknown inherited metabolic error.
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ranking = 0.25
keywords = nerve
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