1/33. Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein gene.A new syndrome of ataxia and retinitis pigmentosa with vitamin e deficiency caused by the missense mutation of alpha-tocopherol transfer protein (alpha-TTP) gene was recently proposed. After studying the first postmortem case with this mutation pathologically and biochemically, whether the symptoms can be treated by supplementation of vitamin E or not is discussed. The major pathological findings were retinal atrophy; severe dying back-type degeneration of the posterior column; and massive accumulation of lipofuscin in neurons including dorsal root ganglion (DRG) cells, which were almost identical to those in vitamin E deficient animals and patients with fat malabsorption. Also, mild loss of purkinje cells was noted. Because robust expression of alpha-TTP was detected in the cerebellum as well as in the liver and the tissue concentration of vitamin E in the cerebellum was still low even after oral supplementation, the mild Purkinje cell loss might be related to the mutant alpha-TTP in the cerebellum. By contrast, in the DRG, thought to be mainly responsible for ataxia, no expression of alpha-TTP was detected, and the tissue concentration of vitamin E increased to normal after supplementation. It is therefore considered that oral supplementation of vitamin E should effectively counteract the progression of ataxia.- - - - - - - - - - ranking = 1keywords = ganglion (Clic here for more details about this article) |
2/33. Asymmetric sweating in a child with multiple sclerosis.A 10-year-old male with multiple sclerosis complained of excessive sweating on the right side of the forehead and shoulder on relapse 3 months after the onset of multiple sclerosis. Because the neurologic evaluation revealed no abnormalities in the sudomotor function, it is likely that the hyperhidrosis resulted from a lesion in the central or preganglionic sympathetic nervous system. magnetic resonance imaging demonstrated a high-intensity lesion involving the left hypothalamus on T(2)-weighted imaging. Thus hypothalamic involvement might be the reason for the hyperhidrosis in this patient.- - - - - - - - - - ranking = 1keywords = ganglion (Clic here for more details about this article) |
3/33. Vim thalamotomy for Holmes' tremor secondary to midbrain tumour.Holmes' (rubral or midbrain) tremor is an unusual combination of 2 Hz to 5 Hz rest, postural, and kinetic tremors of an upper extremity. This tremor has been considered to result from the lesions in the vicinity of the red nucleus in the midbrain. There has been no systematic analysis of the surgical target in the Holmes' tremor so far of nucleus ventrointermedius (Vim) or globus pallidus interna. This 26 year old man gradually developed a disabling midbrain tremor involving both the distal and proximal parts of the left upper arm. Additional neurological findings included oculomotor palsy and ataxia of the left arm. On the radiological studies, a mass lesion (germinoma) was found on the midbrain tegmentum, which was treated by conventional radiation therapy. Although there was improvement in the radiological imaging, his midbrain tremor became intolerable despite medical treatment. The authors performed MR guided stereotactic Vim thalamotomy. With radiofrequency lesioning in the right Vim, his resting, postural, and action tremors were much alleviated in both the distal and proximal parts of the left upper extremity. The authors consider that Vim thalamotomy is still an effective means of controlling midbrain tremors involving the proximal upper limb.- - - - - - - - - - ranking = 0.47022038314559keywords = nucleus (Clic here for more details about this article) |
4/33. SANDO: another presentation of mitochondrial disease.PURPOSE: To describe a unique mitochondrial syndrome that may present with the combination of ocular manifestations, sensory symptoms, and speech dysfunction. DESIGN: Case report. methods: Case report and review of the literature. RESULTS: A 43-year-old man presented with a Sensory Ataxic Neuropathy, dysarthria, and Ophthalmoparesis (SANDO). Nerve conduction studies showed a sensory ganglionopathy. Skeletal muscle biopsy revealed ragged red fibers, and polymerase chain reaction analysis of the tissue demonstrated multiple mitochondrial dna deletions. CONCLUSION: Mitochondrial disease should be considered in cases of external ophthalmoplegia, especially if a sensory ganglionopathy and dysarthria are present.- - - - - - - - - - ranking = 2keywords = ganglion (Clic here for more details about this article) |
5/33. Was the ataxia of Pierre Marie machado-joseph disease?: A reappraisal based on the last autopsy case from la Salpetriere Hospital.Nosological placement of l'heredo-ataxie cerebelleuse de Pierre Marie (HAC) has never been established even after several autopsy cases from the original Haudebourg family had been reported. To reappraise the clinical and pathological features of HAC in the current framework of hereditary ataxias, we screened the autopsy records of la Salpetriere hospital and identified a patient with a diagnosis of HAC who underwent an autopsy in 1943. Clinical features included heredity compatible with autosomal dominant inheritance, spasticity, increased tendon reflexes, mask-like face, visual impairment, nuclear ophthalmoparesis, and exophthalmos in addition to progressive ataxia. Pathological lesions included the spinal cord (spinocerebellar tracts, anterolateral fascicles, and posterior column), cerebellar dentate nucleus, pontine nucleus, pallidum, motor neurons including the oculomotor nucleus, and substantia nigra. The cerebellar cortex and inferior olives were preserved. These clinical and pathological features, similar to those described in patients from the Haudebourg family, a core prototype of HAC, are indistinguishable from those of machado-joseph disease. It would then be possible to conclude that some of the patients historically considered to have HAC would today be classified as having machado-joseph disease.- - - - - - - - - - ranking = 0.70533057471838keywords = nucleus (Clic here for more details about this article) |
6/33. Autosomal dominant childhood onset slowly progressive leukodystrophy--a Japanese family with spastic paraparesis, ataxia, mental deterioration, and skeletal abnormality.Autosomal dominant leukodystrophy is an extremely rare disease. Here we report on a dominantly inherited disease in a Japanese family with slowly progressive clinical course. Their symptoms and signs started in early childhood and very slowly progressed. In most patients spastic gait was the initial symptom. Neurological manifestations were characterized by pyramidal signs, ataxia, and mental deterioration. In addition to these neurological signs, the skeletal anomalies such as scoliosis and congenital hip dislocation were also present. MR images showed no abnormality in the early stage, but T2-weighted images revealed high intensity areas in the cerebral and cerebellar white matter, and the dentate nucleus in the advanced stage. Proton MR spectroscopy showed decrease of N-acetylaspartate/creatine ratio and increase of choline/creatine ratio in the advanced stage. Proton MR spectroscopy revealed normal N-acetylaspartate/creatine ratio and increase of choline/creatine ratio in the early stage. We suggested that these patients had abnormality in the white matter when MRI was still normal. We considered that intracranial demyelination was gradually progressed as the symptoms got aggravated.- - - - - - - - - - ranking = 0.23511019157279keywords = nucleus (Clic here for more details about this article) |
7/33. antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia.We report the case of a 51-year-old woman with anosmia and chronic sensory ataxic neuropathy. Olfactory tests suggested neurosensory anosmia. Immunocytochemical analysis showed serum antibodies against dorsal root ganglion (DRG) cells and olfactory neurons, in the absence of other known causes of anosmia and sensory neuropathy. Clinical and laboratory data suggested a slow autoimmune process affecting dorsal root ganglion and olfactory cells.- - - - - - - - - - ranking = 2keywords = ganglion (Clic here for more details about this article) |
8/33. deep brain stimulation of the nucleus ventralis intermedius for Holmes (rubral) tremor and associated dystonia caused by upper brainstem lesions. Report of two cases.Holmes tremor is caused by structural lesions in the perirubral area of the midbrain. patients often present with associated symptoms such as dystonia and paresis, which are usually refractory to medical therapy. Here, the authors describe two patients in whom both tremor and associated dystonia improved markedly following unilateral stimulation of the thalamic nucleus ventralis intermedius.- - - - - - - - - - ranking = 1.175550957864keywords = nucleus (Clic here for more details about this article) |
9/33. ataxia and secretory diarrhea: two unusual paraneoplastic syndromes occurring concurrently in the same patient with ganglioneuroblastoma.The presence of rare paraneoplastic syndromes, the opsoclonus-myoclonus-ataxia syndrome (OMA), presumably caused by antineuronal antibody production, and diarrhea, caused by vasoactive intestinal peptide (VIP) secreted by neuroblastoma, may strongly signal the presence of neuroblastoma. The authors describe a child who presented with both syndromes concurrently; this has never been described previously in the same patient. However, diagnosis of neuroblastoma was delayed by a workup focused on the prolonged diarrhea rather than the ataxia. The diarrhea resolved after tumor resection, whereas OMA required further therapy. Increased awareness of VIP-secretory diarrhea, especially in an ataxic child, might contribute to an earlier diagnosis of neuroblastoma.- - - - - - - - - - ranking = 4keywords = ganglion (Clic here for more details about this article) |
10/33. Niemann-Pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology.Two sisters with Niemann-Pick disease type C were examined: the brain in one sister, who had died, was examined, and eye movements in the other, surviving sister were recorded. Ocular motor recordings showed marked slowing of vertical saccades with relative sparing of horizontal saccades, pursuit, and the vestibulo-ocular reflex. Neuropathological findings included glial fibrillary lesions in the area of the posterior commissure and neuronal loss in the rostral interstitial nucleus of the MLF with preservation of the interstitial nucleus of Cajal and ocular motor complex. These neuropathologic findings correlate well with our current understanding of the anatomy and physiology of the supranuclear control of vertical gaze.- - - - - - - - - - ranking = 0.47022038314559keywords = nucleus (Clic here for more details about this article) |
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