Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Incontinentia pigmenti (IP) is a hereditary syndrome characterized by specific skin lesions occurring mostly during the neonatal period (96% of the cases before 6 weeks of age). These skin lesions have four steps of evolution: inflammatory or erythemato-bullous stage (very often associated with peripheral blood hyper-eosinophilia), proliferative or verruco-lichenoid stage, pigmentary or terminal stage characterized by "fountain" or "firework" features (with a picture of pigmentary incontinence at histological examination), sometimes there is a fourth stage referred to as "involutive". Ocular and neurological involvement is the main determinant in the prognosis. Eye lesions include corneal flecks, cataracts, uveitis or optical atrophy with retrolental fribroplasia. The neurological involvement includes pyramidal syndrome, cerebral ataxia, microcephalia, and mental retardation. The disease has mainly an X-linked dominant transmission and is usually lethal for males. Rare cases are observed in boys, some being associated with Klinefelter syndrome. Research is ongoing to identify the IP gene on the X chromosome. In the family form of IP, the gene has been located on chromosome Xq28, which allows prenatal diagnosis using trophoblast biopsy.
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PMID:[Incontinentia pigmenti]. 878 38

A 24-year-old pregnant woman started to have hyperemesis gravidarum 6 weeks before admission. Four weeks later she had vertigo, diplopia, staggering gait, mild dyspnea, dysphagia, and incontinence of urine. On admission she presented with ophthalmoplegia, ptosis, ataxia, decreased tendon reflex, and memory disturbance. Brain magnetic resonance imaging revealed abnormal intensities in medial thalamic-hypothalamic regions and the periaqueductal area, and she was diagnosed with Wernicke's encephalopathy. Urodynamic studies revealed decreased bladder volume and detrusor hyperreflexia. Six weeks after the administration of 100 mg/day of thiamine, urge incontinence gradually recovered, together with neurological signs. Lesions of the medial thalamic-hypothalamic area and the periaqueductal gray matter seemed to be mainly responsible for micturitional disturbance in our patient with Wernicke's encephalopathy.
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PMID:Micturitional disturbance in Wernicke's encephalopathy. 904 73

A five-year-old domestic longhair was presented with hind-limb ataxia and some degree of incontinence of two weeks' duration. An enlarged spinal canal from the twelfth thoracic (T12) vertebra to the third lumbar (L3) vertebra was identified on survey radiographs. An intradural-extramedullary cavity at the twelfth (T12) and thirteenth (T13) thoracic vertebrae, filled with contrast material, was demonstrated on myelography. A left-sided hemilaminectomy was performed over this region, and a subarachnoid cavitation or cyst was found to be the cause of the severe spinal-cord compression. The cyst was drained. The cat showed improvement in the neurological signs during the first three weeks postoperatively. Six months later, no neurological deficits were identified on follow-up examination.
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PMID:Subarachnoid cyst in a cat. 911 21

Recombinants of amphotropic murine leukemia virus (A-MuLV) have found widespread use in retroviral vector systems due to their ability to efficiently and stably infect cells of several different species, including human. Previous work has shown that replication-competent recombinants containing the amphotropic env gene, encoding the major SU envelope glycoprotein that determines host tropism, induce lymphomas in vivo. We show here that these viruses also induce a spongiform encephalomyelopathy in mice inoculated perinatally. This fatal central nervous system disease is characterized by noninflammatory spongiform lesions of nerve and glial cells and their processes, and is associated with moderate astro- and microgliosis. The first clinical symptoms are ataxia, tremor, and spasticity, progressing to complete tetraparesis and incontinence, and finally death of the animal. Sequences within the amphotropic env gene are necessary for disease induction. Coinfection of A-MuLV recombinants with nonneuropathogenic ecotropic or polytropic MuLV drastically increases the incidence, degree, and distribution of the neurodegenerative disorder. The consequence of these results in view of the use of A-MuLV recombinants in the clinic is discussed.
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PMID:Amphotropic murine leukemia viruses induce spongiform encephalomyelopathy. 915 61

To investigate complaints of Gulf War veterans, epidemiologic, case-control and animal modeling studies were performed. Looking for OPIDP variants, our epidemiologic project studied 249 Naval Reserve construction battalion (CB24) men. Extensive surveys were drawn for symptoms and exposures. An existing test (PAI) was used for neuropsychologic. Using FACTOR, LOGISTIC and FREQ in 6.07 SAS, symptom clusters were sought with high eigenvalues from orthogonally rotated two-stage factor analysis. After factor loadings and Kaiser measure for sampling adequacy (0.82), three major and three minor symptom clusters were identified. Internally consistent by Cronbach's coefficient, these were labeled syndromes: (1) impaired cognition; (2) confusion-ataxia; (3) arthro-myo-neuropathy; (4) phobia-apraxia; (5) fever-adenopathy; and (6) weakness-incontinence. Syndrome variants identified 63 patients (63/249, 25%) with 91 syndromes. With pyridostigmine bromide as the drug in these drug-chemical exposures, syndrome chemicals were: (1) pesticide-containing flea and tick collars (P < 0.001); (2) alarms from chemical weapons attacks (P < 0.001), being in a sector later found to have nerve agent exposure (P < 0.04); and (3) insect repellent (DEET) (P < 0.001). From CB24, 23 cases, 10 deployed and 10 non-deployed controls were studied. Auditory evoked potentials showed dysfunction (P < 0.02), nystagmic velocity on rotation testing, asymmetry on saccadic velocity (P < 0.04), somatosensory evoked potentials both sides (right P < 0.03, left P < 0.005) and synstagmic velocity after caloric stimulation bilaterally (P-range, 0.02-0.04). Brain dysfunction was shown on the Halstead Impairment Index (P < 0.01), General Neuropsychological Deficit Scale (P < 0.03) and Trail Making part B (P < 0.03). Butylcholinesterase phenotypes did not trend for inherent abnormalities. Parallel hen studies at Duke University established similar drug-chemical delayed neurotoxicity. These investigations lend credibility that sublethal exposures to drug-chemical combinations caused delayed-onset neurotoxic variants.
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PMID:Epidemiological association in US veterans between Gulf War illness and exposures to anticholinesterases. 1002 6

Two hundred and twelve patients with clinically evidenced encephalomyelitis disseminata (ED), hospitalized in a neurological hospital, were observed with regard to psychopathological characteristics and cognitive changes in conformity with ICD-10 diagnostic criteria. The basis of this investigation was a standardized psychiatric interview. The age of the patients averaged 47 years whereas the duration of the disease averaged 14.3 years. 83.5% of the patients had a disease history of more than 6 years. The medium range of EDSS scores was 5.95%, the BPRS 36.7%. In 5.2% of the patients the course of ED was primarily chronic-progressive while 48% suffered from the intermittent, incomplete-reversible form: 47.6% developed secondary chronic-progressive symptoms. 18 psychopathological symptoms could be identified, the main symptom was depressive mood (49%), followed by impairment of affective sensitivity (34.9%) and affective instability/incontinence (31.1%). The most prevalent diagnoses were dementia (23.1%), organic personality disorder (18.5%), mild cognitive impairment (9%), and depressive disorder (7.6%) Only 33.5% were psychopathologically unaffected. The duration of the disease in all demented patients exceeded 6 years. Patients with an organic personality disorder showed a marked increase in the later stages of their illness in contrast to patients suffering from depressive disorder. At the beginning of ED, a highly significant (p < 0.0001) impairment of vision was found in all psychiatric patients. Dementia patients and organic personality patients, on the other hand, showed an advanced degree of ataxia. Actually, there was a considerably lesser incidence of pareses in the non-psychopathological group whereas ataxia was significantly more prevalent in the three cognitively impaired ED-subgroups than in the control group. These findings set the stage for constructive discussions, taking due consideration of existing research results on ED with particular reference to the implications regarding future research as well as the clinical therapy of patients.
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PMID:Psychopathological changes and cognitive impairment in encephalomyelitis disseminata. 1036 56

The genetics of achondroplasia are discussed, and then the clinical features. The respiratory complications are only considered when related to the neurological ones which are the concern of this paper; and their effects on morbidity and mortality. Cervicomedullary compression can cause pain, ataxia, incontinence, apnea, and respiratory arrest. One of the signs can be progressive quadriparesis which can be a presenting symptom; and may be caused by a vascular lesion as well as by cord compression. Also nerve root compression in the neural foramina can cause symptoms and signs in the limbs. Enlargement of the head is a feature of achondroplasia. This may be due to subdural haematoma related to the wide subarachnoid spaces, and to trauma. Hydrocephalus is common, and may be non-communicating and due to aqueduct stenosis, but is much more often communicating and the result of raised intracranial venous pressure. Shunting may be necessary, but surgery directed towards relieving the venous pressure may be more logical. Otitis media often affects these children, and can cause deafness and subsequently delayed language development. Sleep disturbances can be the result of both neurological and respiratory complications. Apart from the treatment for hydrocephalus the most important decision is often the question of operating on the cervical medullary compression. Risk factors such as brisk reflexes, small foramen magnum, and central hypopnea, can be an indication for surgery; but timing can be difficult as the cord compression can resolve spontaneously. The intelligence levels of these children are usually normal, and studies have shown a surprisingly high level of satisfaction with the services provided.
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PMID:The neurological complications of achondroplasia. 1076 26

An outbreak of neurological disease caused by EHV-1 infection is described with emphasis on diagnosis and prognosis for recumbent horses. In April 1995, an outbreak of the neurological form of Equine herpesvirus type 1 (EHV-1) occurred in a well-managed riding school with 41 horses: 34 horses showed a temperature spike and 20 some degree of neurological signs, of which 10 were nursed intensively in the indoor arena of the riding school for 3 to 20 days, 8 having to be maintained in slings for 2-18 days, while 9 needed bladder catheterisation b.i.d. for 2-16 days. Within the first 3 days, one horse was subjected to euthanasia and another horse died. Postmortem examination revealed a mild vasculitis with perivascular mononuclear cuffing and axonal degeneration in the central nervous system. Clinical diagnosis was confirmed by serology and virology: 28 horses seroconverted in one or more tests during the outbreak, whereas 12 had already high CF and SN titres in the first sample, suggestive of recent infection. Virus was isolated from nasal swabs of 4 horses, and identified as EHV-1 with type-specific monoclonal antibodies. Restriction enzyme analysis revealed that the EHV-1 strains from this outbreak belonged to genome type EHV-1.IP. The electropherotypes were identical to those from another, epidemiologically unrelated, outbreak of neurological disease 2 months earlier. The timing of the temperature spikes and seroconversions indicated that the infection was probably introduced by a horse purchased 3 weeks before neurological signs occurred. At follow-up one year later, the 10 horses that showed mild neurological signs had recovered completely. Of the 8 horses that survived intensive care, 3 had returned to around their former performance level (2 of which had been in slings), while the other 5 had become pasture-sound. At follow-up 4 years later, all pasture-sound horses had been subjected to euthanasia because of persistent mild ataxia and incontinence. In conclusion, the prognosis for recumbent horses due to EHV-1 infection is grave. For virological diagnosis, extensive and strategic sampling of febrile in-contact horses is required, and the EHV-1-specific glycoprotein G (gG) ELISA is a valuable tool for specific serological diagnosis of EHV-1 infection causing neurological disease.
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PMID:Neurological disease associated with EHV-1-infection in a riding school: clinical and virological characteristics. 1126 70

We reported three siblings with complicated hereditary spastic paraplegia. The striking features in these patients were characterized by early onset of gait disturbance, mental deficiency, and dystonia. The most likely diagnosis was Mast syndrome. Patient 1: A 44 years-old woman. She first developed gait disturbances at age of 8. She was admitted in our hospital because of progressive spastic paraplegia. Neurological examination revealed mental deficiency, saccadic pursuit eye movement, speech disturbance of cerebellar type, ataxia, and spastic paraplegia. She showed also dystonia in the face, tongue, and trunk. MRI showed cerebellar atrophy. Patient 2: A 51 years-old brother of the patient 1. He had mentally retarded. Late teens he developed gait disturbance. Gradually he manifested spastic paraplegia, dysarthria, dysphasia, mental deficiency, and ataxia. He also showed incontinence of urine and feces. Then he became bedridden, apathetic, and showed forced crying. MRI showed diffuse brain atrophy. Patient 3: A 48 year-old woman. This woman, a sister of the patient 1, showed progressive gait disturbance and dysarthria. She also developed incontinence, apathy, and dystonia. She became bedridden, responding to simple questions with only occasional single-word answers. Her speech was slurred, and spastic paraplegia was noted. MRI showed diffuse brain atrophy including marked atrophy of the cerebellum.
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PMID:[A family of hereditary spastic paraplegia with dementia, ataxia, and dystonia]. 1199 89

Treatment of primary central nervous system lymphoma (PCNSL) with combined high-dose methotrexate (HD-MTX)-based chemotherapy and whole-brain radiotherapy (WBRT) is associated with severe neurotoxicity, but high relapse rates are associated with the use of either modality alone. In an attempt to improve upon these dismal results, we treated seven PCNSL patients with HD-MTX-based induction therapy followed by thiotepa, busulfan, cyclophosphamide (TBC), and autologous stem cell transplant (ASCT), without WBRT. Six of these patients had at least one of the following poor prognostic features: Karnofsky performance status (KPS) <or=50%, age >60 years, or relapsed disease. All but one patient tolerated the treatment well and experienced improvements in neurological function and overall performance status post-transplant. No treatment-induced neurotoxicity (dementia, ataxia, and incontinence) was observed although the follow-up is short. One early treatment-related death occurred in a patient with multiple comorbid medical conditions. The other six patients achieved a complete response (CR) after TBC and ASCT. Five patients are currently alive and relapse-free at 5, 8, 24, 36, and 42 months from diagnosis. One additional patient relapsed and died 33 months after diagnosis. Two of the seven patients received TBC/ASCT as the only treatment after disease progression following their initial chemotherapy and both remain relapse-free at the time of this report, 22 and 31 months post-TBC/ASCT. In conclusion, prolonged CR can be attained after chemotherapy-only treatment of poor prognosis PCNSL. Furthermore, this small series suggests that high-dose chemotherapy for PCNSL should include drugs that penetrate the CNS such as busulfan and thiotepa rather than standard lymphoma regimens such as BEAM.
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PMID:High-dose thiotepa, busulfan, cyclophosphamide and ASCT without whole-brain radiotherapy for poor prognosis primary CNS lymphoma. 1269 8


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