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)

We report the case of a 70-year-old man who developed probable unilateral Creutzfeldt-Jakob disease. Clinically, he presented with right hemiparesis, progressive aphasia, temporospatial disorientation and cerebellar ataxia and later on, myoclonia. The MRI showed a hypersignal from the left caudate in DWI with decreased ADC. Repeated electroencephalograms showed a slow background rhythm in the left hemisphere with superimposed periodic, biphasic and triphasic sharp-wave complexes in the left temporal region. Death occurred after 5weeks. Although exceptional, unilateral Creutzfeldt-Jakob disease was retained as possible.
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PMID:[Unilateral Creutzfeld-Jakob disease: report of a probable case on electroclinical, MRI and biological criteria]. 2307 55

A 66-year-old woman suddenly experienced unsteadiness while walking; she had experienced the same symptom before, but it had resolved immediately. Her neurological findings showed cerebellar ataxia, absence of tendon reflex in the extremities, and orthostatic hypotension. MRI with DWI of the brain showed linear high-intensity areas at the white matter just below the cerebral cortex. Therefore, we suspected neuronal intranuclear inclusion disease (NIID). In her cutaneous skin biopsy, intranuclear inclusion bodies, which tested positive for an anti-ubiquitin antibody and anti-p62 antibody, were observed in sweat gland cells and fibroblasts; therefore, we diagnosed her with NIID. As no one in her family had similar symptoms, this was a case of sporadic NIID. Adult-onset NIID with the main presentation of cerebellar ataxia is rare; in our case, this repeated acute-onset symptom was a unique manifestation of the condition.
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PMID:Sporadic adult-onset neuronal intranuclear inclusion disease with the main presentation of repeated cerebellar ataxia: a case study. 2718 48