Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0007758 (cerebellar ataxia)
 3,609 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 68 year old man with prostatic carcinoma developed spinal cord compression. The sole presenting feature was painless gait ataxia indistinguishable from cerebellar ataxia. He was investigated for cerebellar disease but the correct diagnosis was made when he subsequently presented with paraplegia and classical signs of spinal cord compression. Surgical decompression failed to produce neurological recovery. We discuss the importance of recognizing this unusual presentation of spinal cord compression, its possible mechanism and evidence that it may be under-reported.
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PMID:Gait ataxia as a presenting symptom of malignant epidural spinal cord compression. 377 6

A case of intracranial multiple fibrous histiocytom is arising from the dura mater and both lateral ventricles is presented. To the authors' knowledge, this is the ninth case of intracranial fibrous histiocytomas reported in the literature. A 10-year-old girl was admitted with a 6 month history of cerebellar ataxia. Radiological examination including CT scan revealed a large mass in occipito-suboccipital region. On November 1, 1978, subtotal resection of the tumor was performed. Yellowish hard tumor, weighing 195 g had wide attachment to the dura mater, but did not invade the brain tissue. Postoperative CT scan, three months later revealed the other tumors in the left lateral ventricle and in the suprasellar region in addition to the lesion that had been operated on. In the course of hospitalization, the suprasellar tumor enlarged rapidly despite of 60Co radiation therapy, then led her to hypothalamic dysfunction. In January, 1981, she had paraplegia and paresis of the right upper extremity. Spinal lesion at the level of C-5 was presumed, but further examination was not performed because of her poor condition. On February 19, 1981, she expired. Autopsy of the head revealed four independent lesions in both lateral ventricles, the suprasellar region and the residual lesion which had been resected subtotally at the operation, respectively. Entire falx cerebri was invaded continuously by the tumor in occipito-suboccipital area. Microscopically, all tumors were identical in histology and were composed of spindle shaped cells with storiform pattern, foam cells and rare giant cells. Any mitotic figures were not detected. Clinical behavior was aggressive but histological figures suggested fibrous histiocytoma.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of intracranial multiple fibrous histiocytoma. Case report and review of literature]. 608 79

A twenty-six year old man was admitted for febrile atypical pneumoniae. Few hours later, he presented an acute flaccid paraplegia with dorsal pain. Cerebrospinal fluid analysis showed a high leukocyte count with raised protein level. Neuroradiological examinations (myelography and MRI) were normal. Seric immunological disorders were reported. High complement-fixing antibody titers to Mycoplasma pneumoniae were found in the serum and in the CSF. The patient was treated with antibiotic and corticosteroids. He improved dramatically within one month. Neurological complications of Mycoplasma pneumoniae infections have been described (meningoencephalitis, meningitidis, polyradiculoneuropathies, cerebellar ataxia, cranial nerve palsies). Nineteen cases of transverse myelitis induced by Mycoplasma pneumoniae have been previously reported. Pathophysiological mechanisms of nervous system complications induced by Mycoplasma pneumoniae were discussed. Vascular mechanisms, direct invasion by the pathogen, toxic, immunological causes were examined.
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PMID:[Transverse myelitis caused by Mycoplasma pneumoniae infection]. 748 96

Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder, first described in a Japanese family, showing linkage to chromosome 19q13.4-qter. Recently, mutations have been identified in the PRKCG gene in families with SCA14. The PRKCG gene encodes the protein kinase Cgamma (PKCgamma), a member of a serine/threonine kinase family involved in signal transduction important for several cellular processes, including cell proliferation and synaptic transmission. To identify the disease-causing mutation in a large group of ataxia patients, we searched for mutations in the PRKCG gene. We ascertained 366 unrelated patients with spinocerebellar ataxia, either pure or with associated features such as epilepsy, mental retardation, seizures, paraplegia, and tremor. A C-to-G transversion in exon 4, resulting in a histidine-to-glutamine change at codon 101 of the PKCgamma protein, was identified in patients from a family with slowly progressive pure cerebellar ataxia. Functional studies performed in HEK293 cells transfected with normal or mutant construct showed that this mutation affects PKCgamma stability or solubility, verified by time-dependent decreased protein levels in cell culture. In conclusion, the H101Q mutation causes slowly progressive uncomplicated ataxia by interfering with PKCgamma stability or solubility, which consequently may cause in either case a decrease in the overall PKCgamma-dependent phosphorylation.
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PMID:A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. 1618 24

We report a patient with superficial siderosis that repeated episodes of epilepsy. The patient was a 62-year-old male, and underwent an operation for the tumor of the spinal cord at 22 years of age. He had become deaf at 50 years of age, and repeated loss of consciousness at 59 years of age and later. Neurological examination revealed cerebellar ataxia and bilateral sensorineural deafness in addition to paraplegia, which was caused by the spinal cord tumor. Brain MRI showed low intensity rim around the brain stem, cerebellar hemisphere, and inferior aspects of the temporal and frontal lobes, being consistent with superficial siderosis. Hemosiderin deposition for an extended period was considered to contribute to the pathogenesis of epilepsy.
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PMID:[A case of superficial siderosis with repeated episodes of epilepsy]. 2019 93

Biermer disease or pernicious anemia is an autoimmune atrophic gastritis characterized by the lack of secretion of gastric intrinsic factor. This leads to an insufficient absorption of vitamin B12 in the ileum. Clinical manifestations are mainly hematologic. Neuropsychiatric manifestations are known but are less frequent especially early in the disease. Inaugural neuropsychiatric arrays are rare and various thus making diagnosis difficult. In this article, we report through two clinical cases different neuropsychiatric manifestations revealing pernicious anemia. Mrs. C.O., aged 56, presented after surgery for gallstones, an acute psychiatric array associated with gait disorders. She had no history of neurological or psychiatric problems. The psychiatric interview revealed delirious syndrome, depressive symptoms and anxiety. Neurological examination noted a flaccid paraplegia with peripheral neuropathic syndrome and myoclonus in the upper limbs. At the full blood count, a macrocytosis (VGM: 112.2fl) without anemia was found. The level of vitamin B12 in the blood was low. Cerebro-spinal MRI was suggestive of a neuro-Biermer and showed hyper signal in the cervical cord on T2-weighted sagittal section. In axial section, hyper signal appears at the posterior columns in the form of V. There were no brain abnormalities. A sensorimotor axonal polyneuropathy was diagnosed. The patient received vitamin B12 intramuscularly for ten days associated with neuroleptic treatment. Mrs. R.M., aged 40, was brought to the psychiatry consultation for acute behavioral disorders progressively worsening over a month. An anxiety syndrome, depressive syndrome and delirious syndrome were identified. Neurological examination showed a posterior cordonal syndrome with quadripyramidal syndrome. Full blood count showed a macrocytic anemia. Serum B12 level was collapsed. Cerebro-spinal MRI was normal. She received vitamin B12 with clinical and biological improvement. Features of pernicious anemia vary according to studies and age range. Digestive and hematological manifestations are well known. Neurological and psychiatric manifestations of pernicious anemia were also described in the early literature. They can be the initial symptoms or the only ones. However, inaugural neuropsychiatric features are often unrecognized. The most common psychiatric symptoms were depression, mania, psychotic symptoms, cognitive impairment and obsessive compulsive disorder. Neurological involvement includes mainly combined spinal sclerosis, peripheral neuropathy and dementia. Cerebellar ataxia and movement disorders are reported less often. Severity of neuropsychiatric features and therapeutic efficacy depends on the duration of signs and level of B12 deficiency. Macrocytic anemia may lack. Neuropsychiatric manifestations could be isolated or be the first manifestation of vitamin deficiency and occur without any hematological or gastrointestinal context. Pernicious anemia and serum B12 assay should be discussed in all patients with organic mental disorders, atypical psychiatric symptoms and fluctuation of symptomatology. Nevertheless, B12 level could be normal in genuine pernicious anemia diseases and macrocytic anemia may lack. Substitutive vitaminotherapy is required when diagnosis is strongly suspected and etiologic assessment is negative.
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PMID:[Neuropsychiatric manifestations ushering pernicious anemia]. 2634 54

Spinocerebellar ataxia 3 (SCA3), also known as Machado-Joseph disease (MJD) is an autosomal dominant, progressive neurodegenerative disorder. Patients present with cerebellar ataxia, dystonia, rigidity, and neuropathy that worsen with time. On a molecular level, it occurs due to a CAG trinucleotide repeat expansion in the ATXN3 gene. Due to the risk of pulmonary aspiration, hypoventilation, autonomic and thermoregulatory dysfunction, vocal cord paralysis, progressive paraplegia, parkinsonian symptoms, and chronic pain, it has significant anesthesia implications. Rarely, case reports occur in the literature describing regional anesthetic management of patients with SCA3, but none that describe general anesthesia specifically with MJD. We therefore describe a case of a patient with SCA3 who successfully underwent general anesthesia and considerations for perioperative management of this patient population.
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PMID:Sentinel Node Biopsy and Lumpectomy in a Patient with Machado-Joseph Disease. 3193 55

GluD2 receptor belongs to the orphan delta family of glutamate receptor ion channels. These receptors play key roles in synaptogenesis and synaptic plasticity and are associated with multiple neuronal disorders like schizophrenia, autism spectrum disorder, cerebellar ataxia, intellectual disability, paraplegia, retinal dystrophy, etc. Despite the importance of these receptors in CNS, insights into full-length GluD2 receptor structure is missing till-date. Here we report cryo-electron microscopy structure of the rat GluD2 receptor in the presence of calcium ions and the ligand 7-chlorokynurenic acid, elucidating its 3D architecture. The structure reveals a non-swapped architecture at the extracellular amino-terminal (ATD), and ligand-binding domain (LBD) interface similar to that observed in GluD1; however, the organization and arrangement of the ATD and LBD domains in GluD2 are unique. While our results demonstrate that non-swapped architecture is conserved in the delta receptor family, they also highlight the differences that exist between the two member receptors; GluD1 and GluD2.
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PMID:The architecture of GluD2 ionotropic delta glutamate receptor elucidated by cryo-EM. 3251 55