1/7. Neuropsychological functioning in a patient with essential tremor with and without bilateral VIM stimulation.The effects of deep brain stimulation on motor functions, cognitive abilities, and mood were assessed in an 80-year-old, right-handed male with a chronic history of essential tremor. electrodes were implanted bilaterally in the ventral intermediate nucleus of the thalamus during a single operation. Upon evaluation at 3 months postsurgery, bilateral stimulation was associated with a clinically significant reduction in tremor ratings and improvement in manual dexterity. At that time, a battery of neuropsychological measures was administered with and without bilateral stimulation. The patient demonstrated comparable performances on measures of visuospatial perception, attention, mental tracking, verbal learning, and verbal recognition memory in both the "on" and "off" conditions. Without stimulation, the patient demonstrated declines of greater than 1 SD on measures of verbal fluency and verbal recall compared to when the stimulators were active. Responses to mood rating scales also indicated greater subjective distress without stimulation. Results are discussed in the context of previous studies of the effects of thalamic stimulation on neurocognitive functioning.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
2/7. neurosyphilis masquerading as corticobasal degeneration.We report on a patient with a syndrome resembling corticobasal ganglionic degeneration (CBD), including slight cognitive impairment, asymmetric akinesia, rigidity with myoclonus, and arm levitation, which can be one of the features of alien limb phenomenon; however, further diagnostic testing was consistent with neurosyphilis. Syphilis, "the great imitator," may also masquerade as CBD. Because neurosyphilis is treatable, it should be considered in the workup of patients with cognitive impairment and motor signs of CBD.- - - - - - - - - - ranking = 68.944065152949keywords = basal ganglion, ganglion (Clic here for more details about this article) |
3/7. Ocular abnormalities in mucolipidosis IV.Systemic findings in a 23-year-old white man with mucolipidosis type IV included early delayed psychomotor development, mental retardation, and mild facial dysplasia. There was urinary excretion of chondroitin sulfate. Ophthalmologic examination showed corneal haze, pigmentary retinopathy, and severe optic atrophy. light microscopy showed massively engorged superficial and intermediate epithelial cells of both the cornea and the conjunctiva. By transmission electron microscopy these contained fine granular material consistent with acid mucopolysaccharide and concentric lamellar bodies presumably representing phospholipids. This storage phenomenon was also found in macrophages, plasma cells, ciliary epithelial cells, schwann cells, retinal ganglion cells, and vascular endothelial cells. light microscopy also disclosed early cataract formation, marked outer retinal degeneration, and optic atrophy.- - - - - - - - - - ranking = 18.930824178109keywords = ganglion (Clic here for more details about this article) |
4/7. Utilization behavior after right thalamic infarction.We report a patient who showed exaggerated responses to external cues (utilization behavior), motor impersistence, and a right-hand-predominant instinctive grasp reaction after right thalamic infarction. High-resolution computed tomography with stereotaxic lesion localization revealed almost complete destruction of the ventroanterior nucleus and intralaminar nuclei of the right thalamus; the dorsomedial nucleus was only partially involved. Single photon emission computed tomography revealed hypoperfusion in the right thalamus and over the entire right cerebral cortex with some prominence in the frontal area. From these observations, we believe that the utilization behavior in our case was caused by the disturbance in maintaining cortical tone of the right hemisphere as well as by the dysfunction of the right frontal lobe, both secondary to the damage to the right ventroanterior nucleus and intralaminar nuclei.- - - - - - - - - - ranking = 3keywords = nucleus (Clic here for more details about this article) |
5/7. Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?We report a patient with total colonic aganglionosis in association with a deletion of part of the long arm of chromosome 10: (del(10)(q11.2q21.2)). This deletion includes the ret proto-oncogene, which has recently been implicated in multiple endocrine neoplasia type 2a (men 2A). The possible links between Hirschsprung's disease and the neurocristopathies and the aetiological role of abnormalities of neural crest development in these conditions are discussed.- - - - - - - - - - ranking = 18.930824178109keywords = ganglion (Clic here for more details about this article) |
6/7. Severe frontal syndrome associated with infarcts of the left anterior cingulate gyrus and the head of the right caudate nucleus. A clinico-pathological case.The clinicopathological findings in a patient who presented a severe frontal syndrome and who had ischaemic lesions in the left anterior cingulate gyrus and in the head of the right caudate nucleus are reported. The clinical features included complex disorders such as distractibility, docility, emotional unconcern, manual grasping, prehension and utilization behaviour, perseverations and anterograde amnesia. They are closely similar to those previously described in a patient with bilateral lesions involving the anterior cingulate gyri. These findings suggest that (i) in the presence of a lesion of the anterior cingulate gyrus on one side, a lesion of the head of the contralateral caudate nucleus may be equivalent to a lesion of the anterior cingulate gyrus, the anterior cingulate gyrus--caudate complex working as a single functional unit; (ii) the anterior cingulate gyri (and anterior cingulate gyrus--caudate complexes) play a crucial role in the expression of frontal lobe functions; (iii) they are necessary for sustained goal-oriented responses to (emotionally or not) discriminated stimuli.- - - - - - - - - - ranking = 6keywords = nucleus (Clic here for more details about this article) |
7/7. L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship.Three out of four sibs in a North-African family were affected with L-2-hydroxyglutaric aciduria. The youngest sib was most severely handicapped: she was diagnosed at 2.5 years of age, whereas the then 7- and 10-year-old siblings had a less pronounced psychomotor retardation. All patients had an increased head circumference in contrast to the healthy, non-affected sibling. urine and plasma levels of L-2-hydroxyglutaric acid in the three sibs were similar and showed only a small variation. magnetic resonance imaging (MRI) of the brain in the eldest sib showed hyperintense signal on T2-weighted images of the basal ganglia, dentate nucleus and subcortical white matter. The youngest sib showed identical white matter abnormalities of the corpus medullare cerebelli. These abnormalities were consistent with demyelination and/or spongiosis. On two occasions cerebrospinal fluid amino acid chromatography in the youngest sib showed an increased concentration of lysine and a decreased level of glutamine. Plasma lysine was normal. It is concluded that L-2-hydroxyglutaric aciduria is almost invariably associated with neurological disease; the severity of the symptoms does not seem to be completely dependent on the extent of the biochemical abnormalities and may even be variable within a family.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |