1/7. deep brain stimulation to treat hyperkinetic symptoms of cockayne syndrome.cockayne syndrome manifests a spectrum of neurological dysfunction that includes medically intractable movement disorders. deep brain stimulation has not been well studied in such rare neurodegenerative conditions. In this case, stimulation of the ventral intermediate nucleus of the thalamus was used to manage severe motor symptoms in a young man with cockayne syndrome. There was a marked and progressive response to thalamic stimulation within weeks of surgery. These results suggest that patients with cockayne syndrome should be considered for deep brain stimulation to treat refractory movement disorders.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
2/7. cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset.A 2-year-old boy with an early onset and severe form of Cockayne's syndrome (CS) showed differences from the common CS form, which made the clinical diagnosis difficult. However, the cellular characteristics of CS, that the patient's skin fibroblasts exhibited the hypersensitivity to the lethal effect of 254 nm ultraviolet light (UV) and a defective recovery of post-UV DNA synthesis, but normal level of UV-induced unscheduled DNA synthesis, were observed. The magnetic resonance imaging (MRI) by the inversion-recovery method of the brain at age of 26 months showed atrophy or poor development of high signal images of the white matter. The MRI spin-echo image showed a low signal image of the lenticular nucleus. The T1 and T2 values of the cerebrum (grey matter, white matter, lenticular nucleus and thalamus) were greater than those of the age-matched controls. but similar to infant brains with much free water. Such MRI findings may suggest hypomyelination leading to the severe atrophy of the brain in this CS patient. His severe symptoms progressed rapidly until his death at 35 months due to systemic sepsis and renal dysfunction. autopsy revealed severe microcephaly, severe atrophy of cerebrum, cerebellum and brain stem, and calcification throughout the brain, especially in the basal ganglia. Myelin staining showed numerous patchy losses of myelination in the cortical white matter.- - - - - - - - - - ranking = 2keywords = nucleus (Clic here for more details about this article) |
3/7. Cockayne's syndrome: report of two autopsy cases associated with neurofibrillary tangles.Neuropathological findings in two patients with Cockayne's syndrome, a rare familial condition with mental retardation, progressive neurological deficits, progeria, and dwarfism, are described. Both patients showed extensive tigroid demyelination of the white matter and massive calcifications in the striatum, pallidum, and dentate nucleus. In one patient, neurofibrillary tangles were found in neurons in the nucleus basalis of Meynert, locus ceruleus, substantia nigra, and cerebral cortex, while in the other case only a few tangles were seen in the cerebral cortex. Electron microscopy revealed paired helical filaments. The presence of neurofibrillary tangles in Cockayne's syndrome, rarely reported previously, could suggest premature aging of the brain.- - - - - - - - - - ranking = 2keywords = nucleus (Clic here for more details about this article) |
4/7. cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings.Two siblings with cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, microcephaly, peripheral neuropathy, and spastic quadriplegia. In order to study the inherited DNA-repair defect known to be present in cultured CS cells, a lymphoblastoid line was established from the younger sibling. Tissue culture studies revealed the line to have a hypersensitivity to the lethal effects of 254-nm ultraviolet radiation (UV) equivalent to that of lymphoblastoid lines from CS patients who had either the usual severity or a very mild form of CS. autopsy of the older sibling at six years of age showed the brain to be severely atrophic, with particularly severe cerebellar atrophy. There was a marked reduction in the number of granule cells in the cerebellum and irregular patchy myelination throughout the brain. Many astrocytes contained either a large, bizarre-shaped nucleus or multiple nuclei. Some purkinje cells of the cerebellum and pyramidal neurons of the hippocampus were binucleated. It is suggested that the DNA-repair defect of CS causes abnormalities in nuclear dna replication and cell division which result in cell death and in the observed nuclear abnormalities.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
5/7. deafness in Cockayne's syndrome: morphological, morphometric, and quantitative study of the auditory pathway.The auditory pathway of a 17-year-old deaf patient with Cockayne's syndrome was examined histologically. The cochlea showed marked atrophy of the spiral ganglion and attenuation of the cochlear division of the eighth cranial nerve. By means of the Computer Image Analyzer, the total number of neurons in the ventral cochlear nucleus was found to be reduced from 30,440 to 18,821. The mean diameter of the neurons in the ventral cochlear nucleus, medial dorsal olivary nucleus, and inferior colliculus was smaller than in a control patient, whereas in the medial geniculate nucleus and anterior transverse gyrus of Heschl, the neuronal size approximated the norm. The changes in the first three auditory relay nuclei were considered to represent transsynaptic atrophy caused by degeneration of the spiral ganglion and, possibly, the cochlear neuroepithelium. This histological report verifies that deafness in Cockayne's syndrome is largely sensorineural and that degeneration of spiral ganglion in humans can lead to a chain of trans-synaptic degeneration in the ventral cochlear nucleus, medial dorsal olivary nucleus, and inferior colliculus.- - - - - - - - - - ranking = 41.561860854623keywords = ganglion, nucleus (Clic here for more details about this article) |
6/7. cockayne syndrome--an audiologic and temporal bone analysis.Cockayne's syndrome is a triad of dwarfism, retinal atrophy, and deafness. Over thirty cases have been presented in the literature. We have examined and audiometrically tested three patients (ages 13 to 17) with confirmed Cockayne's syndrome and have analyzed the temporal bones of another who died at age 24. To our knowledge this is the first reported temporal bone analysis of a patient with Cockayne's syndrome. Audiograms revealed bilateral symmetric sensorineural hearing loss that was greatest in the high frequencies. temporal bone examinations revealed inner and outer hair cell losses in the basal turn of the cochlea with corresponding neuron losses in the spiral ganglion. We have found that the clinical and histopathologic features resemble those of presbycusis and conclude that this corresponds well with the generalized, rapid, premature aging process characteristic of this disease.- - - - - - - - - - ranking = 11.853953618208keywords = ganglion (Clic here for more details about this article) |
7/7. Histopathology of the eye in Cockayne's syndrome.The eyes of a 44-month-old boy with Cockayne's syndrome had retinal pigmentary abnormalities that included variable pigmentation and excessive lipofuscin deposition in the retinal pigment epithelium and unusual pigmented cells in the retina and subretinal space. There was optic nerve atrophy with loss of nerve fibers and myelin sheaths and also atrophy of the retinal nerve fiber and ganglion cell layers consistent with the histologic features of a demyelinating disease. Widespread pigment dispersion was found in the anterior segment. There was no evidence of vascular disorder, ocular calcification, neuronal storage disorder, or dystrophic corneal changes.- - - - - - - - - - ranking = 11.853953618208keywords = ganglion (Clic here for more details about this article) |