1/18. Spinocerebellar syndrome in patients infected with human T-lymphotropic virus types I and II (HTLV-I/HTLV-II): report of 3 cases from panama.Cerebellar symptoms at onset are unusual in HTLV-I/II-associated tropical spastic paraparesis (TSP). A prospective study of neurological disorders in panama (1985-1990) revealed 13 patients with TSP and 3 with HTLV-I/II-associated spinocerebellar syndrome (HSCS) presenting at onset loss of balance, wide-based stance and gait, truncal instability, and mild leg ataxia (vermian cerebellar syndrome), with absent upper limb dysmetria but with postural tremor, downbeat nystagmus, and dysarthria. In 4-5 years, spinal cord manifestations of TSP developed, including spastic paraparesis, pyramidal signs, bladder and sphincter disturbances. Two patients were infected with HTLV-I and another one, a Guaymi Amerindian woman, with HTLV-II. magnetic resonance imaging (MRI) demonstrated cerebellar atrophy involving predominantly the superior vermis. Mild axonal peripheral neuropathy in the lower limbs, dorsal column involvement and inflammatory myopathy were found by neurophysiology studies. There are 14 similar cases reported in japan and canada, but to our knowledge these are the first documented cases of HSCS in the tropics. A cerebellar syndrome constitutes another form of presentation of HTLV-I/II infection of the nervous system.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
2/18. Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.Joubert syndrome is an autosomal recessive disorder characterized by hypotonia, ataxia, developmental delay, and a distinctive hindbrain malformation involving the cerebellum and brain stem, visualized radiographically on magnetic resonance imaging (MRI) as the "molar tooth sign." In postmortem brains from subjects with Joubert syndrome, there is an apparent absence of decussation of both corticospinal and superior cerebellar tracts, although the functional significance has not been elucidated. We sought to explore the cerebral and cerebellar activation pattern elicited by finger tapping in an adolescent with Joubert syndrome and in a normal control subject using functional MRI. In contrast to the typical highly lateralized activation seen in our control subject, the subject with Joubert syndrome demonstrated striking bilateral activation of the sensorimotor and cerebellar cortex. Although our functional MRI data do not indicate a clear absence of decussation, the abnormal activation pattern observed suggests altered brain functional organization in relation to anatomic differences. Malformation of the hindbrain could result in recruitment of alternative pathways, similar to what has been observed following ischemic injury to the developing or mature central nervous system.- - - - - - - - - - ranking = 2.5738487336329keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/18. Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts.Joubert syndrome is a rare genetic neurologic disorder associated with hypoplasia or absence of the cerebellar vermis. The classic form is characterized by ataxia, hypotonia, eye movement abnormalities, developmental delay, and abnormal breathing patterns. In contrast, other patients have the additional feature of kidney cysts. This population could represent a distinct form of Joubert syndrome. One case of Joubert syndrome with subcortical neuroepithelial cysts was recently described. We report a new case of Joubert syndrome with overlapping features, including diffuse progressive central nervous system neuroepithelial cysts and kidney cysts. Our data suggest that neuroepithelial cysts occur in conjunction with Joubert syndrome associated with kidney cysts.- - - - - - - - - - ranking = 2.5738487336329keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/18. Cerebellar degeneration and hearing loss in a patient with idiopathic myenteric ganglionitis.A 35-year-old male with an 11-year history of intestinal pseudo-obstruction associated with an idiopathic inflammatory insult of the myenteric plexus and the presence of circulating anti-Hu antibodies developed a neurological syndrome characterized by bilateral hearing loss, deteriorating balance, an unsteady gait and difficulty in estimating distances. A similar neurological syndrome has previously been described in older patients among the paraneoplasic syndromes associated with small-cell lung carcinoma and the presence of circulating anti-Hu antibodies, but never in the rare cancer-free patients with anti-Hu-associated chronic idiopathic intestinal pseudo-obstruction. The patient underwent a steroid treatment. No further episodes of functional intestinal obstruction were observed and, after an initial improvement, the neurological symptoms stabilized, leaving a permanent reduction in hearing function and an unsteady gait. The case shows that an idiopathic inflammatory insult of the myenteric plexus may precede (and perhaps lead to) central nervous system impairment in patients with anti-Hu-associated chronic idiopathic intestinal pseudo-obstruction.- - - - - - - - - - ranking = 2.5738487336329keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/18. 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.- - - - - - - - - - ranking = 2.5738487336329keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/18. 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.- - - - - - - - - - ranking = 3.5738487336329keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/18. 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.- - - - - - - - - - ranking = 12.869243668165keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/18. 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.- - - - - - - - - - ranking = 5keywords = nervous system (Clic here for more details about this article) |
9/18. 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.- - - - - - - - - - ranking = 2.5738487336329keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/18. 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 = nervous system (Clic here for more details about this article) |
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