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)

Forty-five patients with Wilson's disease (WD) were prospectively studied: 27 had neurological deficits, 12 hepatic signs, and 6 were asymptomatic. Kayser-Fleischer rings occurred in 23 of the neurological patients and in only 4 of the hepatic patients. Neurological features were extremely variable with respect to frequency and severity. Most frequent were dysdiadochokinesis (25 patients), dysarthria (23), bradykinesia (17), and posture tremor (14). Fifteen, mainly long-term treated patients, presented with rather discrete neurological abnormalities which predominantly consisted of dysarthria and various forms of tremor. Eight patients had a parkinsonian type of neurological WD associated with signs of an organic mood syndrome. Three patients were predominantly hyperkinetic, presenting with dystonic and choreatic movements. In 1 patient, ataxia was the predominant neurological feature. There was a clear-cut correlation between the severity of neurological impairment and the restriction in functional capacity. Nine patients were not able to engage in salaried employment or were retired. Psychiatric symptoms and behavioural disorders were common, varying from mild personality and psychological disturbances to severe psychiatric illness resembling psychotic disorders and major depressive syndromes. Significant mental deterioration was not found in the patients. Disturbances of mood were observed in 12 patients, all of whom had neurological abnormalities. There was a history of an attempted suicide in 7 patients, and a history of an organic delusional syndrome in 3.
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PMID:Neurological and neuropsychiatric spectrum of Wilson's disease: a prospective study of 45 cases. 191 12

We are reporting an autopsy case of so-called "acute multiple sclerosis" that was difficult to differentiate from a brain tumor on MRI findings. This case was a 69-year-old man, whose initial symptoms consisted of headache and unsteadiness in walking. Neurological findings included mild ataxia of the left upper extremity and positive Romberg sign. T 2-weighted MRI showed high intensity areas in the posterior limb of the right internal capsule and white matter near the posterior horn of the right lateral ventricle. Although the headache improved, the unsteadiness was exacerbated and the patient became unable to keep standing. Psychiatric symptoms and left hemiparesis were added to the clinical picture. The following MRI proved expansion of the previous lesions and the diffusely enhanced lesion spreading into the contralateral side through the corpus callosum. Stereotaxic biopsy showed the perivascular accumulation of small lymphocytes and a large number of bizarre astrocytes. Primary brain malignant lymphoma was diagnosed and radiation therapy was carried out. However, he developed perforation of the intestinal tract and died. Autopsy findings revealed scattered and disseminated small lesions in the cerebral white matter and the corpus callosum. There were a large number of lipid-laden macrophages, no stainable myelin and preserved axis cylinders in those lesions. Thus, those were interpreted as demyelinting lesions. They were scattered and multiple. This case was radiologically characterised by the diffusely enhanced, expanding butterfly-shaped lesion in bilateral cerebral hemisphere through the corpus callosum, and pathologically proven to be acute demyelination associated with severe perivascular infiltration of inflammatory cells. Multiple sclerosis may mimic neoplastic processes as trans-callosal hyperplastic neuroimage on neuroimaging like the present case.
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PMID:[A clinico-pathological study of so-called "acute multiple sclerosis" mimicking a brain tumor on the MRI findings]. 1039 Oct 75

Opsoclonus-myoclonus ataxia syndrome is a paraneoplastic syndrome of cerebellar damage associated with neuroblastoma. The authors assessed psychiatric symptoms of opsoclonus-myoclonus ataxia syndrome in 17 children, who were 16 months to 12(1/2) years of age. Psychiatric symptoms examined included disruptive behavior, affective dysregulation, irritability, impulsivity, cognitive impairment, and poor attention.
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PMID:Mood and behavioral dysfunction with opsoclonus-myoclonus ataxia. 1672 Aug 3

Cognitive and olfactory impairments have previously been demonstrated in patients with spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD)-SCA3/MJD. We investigated changes in regional cerebral blood flow (rCBF) using single-photon emission computed tomography (SPECT) imaging in a cohort of Brazilian patients with SCA3/MJD. The aim of the present study was to evaluate the correlation among rCBF, cognitive deficits, and olfactory dysfunction in SCA3/MJD. Twenty-nine genetically confirmed SCA3/MJD patients and 25 control subjects were enrolled in the study. The severity of cerebellar symptoms was measured using the International Cooperative Ataxia Rating Scale and the Scale for the Assessment and Rating of Ataxia. Psychiatric symptoms were evaluated by the Hamilton Anxiety Scale and Beck Depression Inventory. The neuropsychological assessment consisted of Spatial Span, Symbol Search, Picture Completion, the Stroop Color Word Test, Trail Making Test (TMT), and Phonemic Verbal Fluency. Subjects were also submitted to odor identification evaluation using the 16-item Sniffin' Sticks. SPECT was performed using ethyl cysteine dimer labeled with technetium-99m. SCA3/MJD patients showed reduced brain perfusion in the cerebellum, temporal, limbic, and occipital lobes compared to control subjects (pFDR <0.001). A significant positive correlation was found between the Picture Completion test and perfusion of the left parahippocampal gyrus and basal ganglia in the patient group as well as a negative correlation between the TMT part A and bilateral thalamus perfusion. The visuospatial system is affected in patients with SCA3/MJD and may be responsible for the cognitive deficits seen in this disease.
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PMID:Cognitive deficits in Machado-Joseph disease correlate with hypoperfusion of visual system areas. 2230 58