1/22. Palatal tremor, progressive multiple cranial nerve palsies, and cerebellar ataxia: a case report and review of literature of palatal tremors in neurodegenerative disease.We describe a patient with an unusual clinical presentation of progressive multiple cranial nerve palsies, cerebellar ataxia, and palatal tremor (PT) resulting from an unknown etiology. magnetic resonance imaging showed evidence of hypertrophy of the inferior olivary nuclei, brain stem atrophy, and marked cerebellar atrophy. This combination of progressive multiple cranial nerve palsies, cerebellar ataxia, and PT has never been reported in the literature. We have also reviewed the literature of PT secondary to neurodegenerative causes. In a total of 23 patients, the common causes are sporadic olivopontocerebellar atrophy (OPCA; 22%), Alexander's disease (22%), unknown etiology (43.4%), and occasionally progressive supranuclear palsy (4.3%) and spinocerebellar degeneration (4.3%). Most patients present with progressive cerebellar ataxia and approximately two thirds of them have rhythmic tremors elsewhere. ear clicks are observed in 13% and evidence of hypertrophy of the inferior olivary nucleus in 25% of the patients. The common neurodegenerative causes of PT are OPCA/multiple system atrophy, Alexander's disease, and, in most of them, the result of an unknown cause.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
2/22. A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh-frozen human plasma.We report a familial case of hereditary ceruloplasmin deficiency (HCD) showing an A-G transition in intron 6 of the ceruloplasmin gene. Clinical features consisted of chorea, cerebellar ataxia, dementia, diabetes mellitus, retinal pigmentation and iron deposition in the liver and brain without copper overload in those organs. The patient's children and siblings had similar laboratory results, but did not show any neurological abnormalities. She was medicated for diabetes mellitus at 43 years of age, and neurological signs appeared when she was 52 years old. The laboratory findings were anemia, low concentrations of iron and copper in serum and of copper in urine. ceruloplasmin was not detected in the serum. The iron and copper contents in the liver were 3,580 and 10 microg/g wet tissue, respectively. MRI of the brain showed iron deposition in the basal ganglia, dentate nucleus and thalamus. This case did not show any abnormal increase in copper in the blood and urine following CuSO(4)5H(2)O oral overloading test. Following the intravenous administration of commercially available fresh-frozen human plasma (FFP) containing ceruloplasmin, the serum iron content increased for several hours due to ferroxidase activity of ceruloplasmin. In the liver, the iron content decreased more with the combined intravenous administration of FFP and deferoxamine than with FFP administration alone. Her neurological symptoms improved following repetitive FFP treatment.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
3/22. Motor weakness and cerebellar ataxia in Sjogren syndrome--identification of antineuronal antibody: a case report.We report here a combination of rare neurological manifestations of primary Sjogren syndrome (SS), such as motor-dominant motor weakness of peripheral origin, cerebellar ataxia and depression, in a Japanese female patient. An autoantibody in her serum and cerebrospinal fluid immunolabelled spinal motor neurons and cerebellar purkinje cells. On Western blot, this antibody reacted with a protein of 34 kDa from the extract of spinal cord, dorsal root ganglion, or cerebellar cortex, which might correspond to motor weakness and cerebellar ataxia, respectively. The absence of its reactivity to the liver tissue indicates that this autoantibody targets an antigen represented exclusively in the neural tissues. Although it remains to be proved how autoantibodies, sometimes associated with SS, are involved in the development of clinical pictures, some of them are present in the cerebrospinal fluid and exhibit an exclusive affinity to neural tissues, which indicates its plausible link to neurological manifestations. Recognition of these antineuronal antibodies in SS will potentially provide a chance to treat these patients by removing or inactivating the antibody.- - - - - - - - - - ranking = 1.5743687655604keywords = ganglion (Clic here for more details about this article) |
4/22. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers.A neurological syndrome involving progressive action tremor with ataxia, cognitive decline and generalized brain atrophy has been described recently in some adult males with pre-mutation alleles of the fragile x syndrome (FXS) fragile X mental retardation gene (FMR1). Neurohistological studies have now been performed on the brains of four elderly premutation carriers, not reported previously, who displayed the neurological phenotype. Eosinophilic, intranuclear inclusions were present in both neuronal and astrocytic nuclei of the cortex in all four individuals. Systematic analysis of the brains of two of these carriers demonstrated the presence of the intranuclear inclusions throughout the cerebrum and brainstem, being most numerous in the hippocampal formation. The cerebellum displayed marked dropout of purkinje cells, Purkinje axonal torpedoes and Bergmann gliosis. Intranuclear inclusions were absent from purkinje cells, although they were present in a small number of neurones in the dentate nucleus and diffusely in cerebellar astrocytes. The presence of inclusions in the brains of all four FXS carriers with the neurological findings provides further support for a unique clinical entity associated with pre-mutation FMR1 alleles. The origin of the inclusions is unknown, although elevated FMR1 mRNA levels in these pre-mutation carriers may lead to the neuropathological changes.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
5/22. Fisher's syndrome without total ophthalmoplegia.A 16-year-old boy with acute ophthalmoplegic polyneuritis (Fisher's syndrome) exhibited bilateral internal ophthalmoplegia, but only lateral rectus and superior oblique eye movements were affected. Gaze-evoked nystagmus was also present on left lateral gaze. Pupillary reflex recovered 7 weeks after onset, but neither cholinergic supersensitivity nor light-near dissociation were present during the recovery process. This is the first such case to be reported in which the site of the lesion responsible for the pupillomotor impairment was the Edinger-Westphal nucleus.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
6/22. Autosomal recessive spastic ataxia of Charlevoix-Saguenay.Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was originally found among the inhabitants of the Charlevoix-Saguenay region of quebec, canada. This disease is characterized by early-onset ataxia, spasticity, peripheral neuropathy, finger and foot deformities, and hypermyelination of the retinal nerve fibers. The mentality of the patients is usually intact. The principal neuropathology comprises atrophy of the upper vermis and the loss of purkinje cells in the cerebellum. Although the lateral corticospinal tracts are degenerated, the precentral gyrus, dentate nucleus, and inferior olivary nucleus are intact. Recently, the gene responsible for ARSACS was determined to encode the sacsin protein in the quebec patients. In 2004, we first reported a Japanese family with a SACS mutation. So far, we have identified the SACS mutations in a total of five Japanese families with ARSACS and analyzed the clinical features of eight patients. Interestingly, we found some atypical clinical features in the Japanese patients: a slightly later onset than that of the quebec patients, an absence of myelinated retinal fibers, intellectual impairment, and a lack of spasticity. To date, there have been descriptions of non-quebec patients with SACS mutations in japan, italy, tunisia, and turkey. Hereafter, as more SACS mutations are identified, the clinical spectrum of the "sacsinopathies" could expand.- - - - - - - - - - ranking = 2keywords = nucleus (Clic here for more details about this article) |
7/22. Opsoclonus-ataxia due to childhood neural crest tumors: a chronic neurologic syndrome.Five children with subacute or acute onset of cerebellar ataxia and opsoclonus are described. Two had cerebrospinal fluid pleocytosis at the onset of ataxia and were initially thought to have acute parainfectious cerebellar ataxia of childhood. All were found to have tumors of neural crest origin (two neuroblastomas, three ganglioneuroblastomas). Tumors were small and only found by computed tomographic techniques. Urinary catecholamine metabolites were elevated in only two of the patients. Four of the five failed to improve neurologically with resection of the tumor. All four have had a steroid-sensitive chronic ataxic syndrome that worsens with acute nonspecific illnesses and has resulted in long-term deficits, particularly in speech and gross motor function. This is a metabolic encephalopathy associated with permanent residual neurologic deficits but without visible lesions on neuroimaging studies. We stress the frequency of cerebrospinal fluid pleocytosis in patients with tumor-associated opsoclonus and the clinical difficulty in separating tumor-associated cases from those due to other causes [corrected].- - - - - - - - - - ranking = 1.5743687655604keywords = ganglion (Clic here for more details about this article) |
8/22. Paraneoplastic opsoclonus: a neuropathologic study of two cases.The association of opsoclonus and malignant neoplasia is infrequent. The clinical and neuropathological data of two patients in whom opsoclonus and ataxia developed 7 and 11 months before the detection of a bronchial carcinoma are reported. Loss of purkinje cells, edema of dentate nucleus and peridental demyelination were the most important neuropathological findings; neither carcinomatous metastases nor inflammatory signs were found in the brain. From the review of the pathological reports of paraneoplastic opsoclonus, the following conclusions can be drawn: the changes in the cerebellum are produced by the paraneoplastic cerebellar degeneration and are unrelated to the origin of opsoclonus, which has other anatomic substrates; paraneoplastic opsoclonus is a "remote effect" of cancer with an inflammatory basis, for which neurotoxic and immunological mechanisms have been hypothesized.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
9/22. Infantile X-linked ataxia and deafness: a new clinicopathologic entity?We describe an X-linked disorder of the CNS, characterized by onset, in infancy, of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropias, and optic atrophy, and by a progressive course leading to death in childhood. Pathologically, neuron loss and gliosis of the dentate nucleus and inferior olive are conspicuous; involvement of the cerebellar cortex is less prominent. In the proband, the red nucleus, dorsal motor nucleus of the vagus, and central auditory pathways were severely affected. The mother of the proband, now 33, has self-limited episodes of ataxia, and cerebellar atrophy for which no other cause is apparent. The unique heredity, pathology, and clinical picture distinguish this entity from previously described inherited or metabolic ataxias.- - - - - - - - - - ranking = 3keywords = nucleus (Clic here for more details about this article) |
10/22. The association of neuroblastoma and myoclonic encephalopathy: an imaging approach.Myoclonic encephalopathy is a unique clinical syndrome of infants and children that is associated with a neurogenic tumor of ganglion-cell origin in approximately half of cases. A review of the literature as well as our personal experience with two recent infants suggests an imaging approach that includes chest radiography and abdominal computed tomography (CT). ultrasonography, neck CT, and chest CT myelography may be required in selected patients. An expedient clinical and imaging evaluation of infants and children with opsomyoclonus is important to detect those patients with neurogenic tumors.- - - - - - - - - - ranking = 1.5743687655604keywords = ganglion (Clic here for more details about this article) |
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