Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 52-year-old, right-handed female presented with visuospatial dysfunction including left hemineglect, incomplete Balint's syndrome, and environmental agnosia, together with left-sided motor symptoms such as unskillful movement, dystonic postures, and myoclonus in the left hand, without significant dementia. Symptoms progressed to akinetic mutism prior to her death 10 years after onset of illness. Imaging studies such as MRI, SPECT, and PET studies showed severe, predominantly right-sided involvement of parietal and parieto-occipital areas. The motor signs might originate from the right parietal lesions such as area five or somatosensory area. Neuropathologic studies including immunocytochemistry showed tau-positive neurofibrillary tangles and abundant neuritic plaques with amyloid deposits, confirming the diagnosis of Alzheimer's disease. An analysis of serum apolipoprotein E revealed epsilon3/epsilon3 homozygosity. This case represents a variant of Alzheimer's disease conspicuous for progressive motor signs and visuospatial dysfunction with a striking laterality, reflecting asymmetric parietal involvement. Alzheimer's disease with asymmetric parietal atrophy is difficult to be clinically distinguished from corticobasal degeneration characterized by progressive unilateral motor signs and focal cortical signs.
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PMID:Alzheimer's disease with asymmetric parietal lobe atrophy: a case report. 980 25

Corticobasal ganglionic degeneration (CBGD) is a neurodegenerative dementia characterized by asymmetric parkinsonism, ideomotor apraxia, myoclonus, dystonia, and the alien hand syndrome. This report describes a patient with CBGD who developed Balint's syndrome with simultanagnosia, oculomotor apraxia, and optic ataxia.
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PMID:Corticobasal ganglionic degeneration with Balint's syndrome. 1100 9

Visual-spatial agnosis, praxis deficits and hallucinations can be the features of subacute sclerosing panencephalitis (SSPE) in the early period. This study describes a 15-year-old boy with SSPE presenting with visual agnosia, prosopagnosia, simultanagnosia, optic ataxia, and oculomotor apraxia which are compatible with Balint syndrome. MRI revealed heterogenous and abnormal signal changes in the bilateral parieto-occipital areas. The signals were more prominent on the left. The case discussed herein is important because he was diagnosed as Balint's syndrome by means of clinical and neuroradiological findings before the onset of known symptomatology as dementia/myoclonus of SSPE. The case is also illustrative of the need to emphasize the prompt evaluation of a patient's cortical features before clinical progression becomes apparent. This evaluation should be performed in the early period if correct diagnosis is to be reached.
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PMID:Subacute sclerosing panencephalitis presenting with Balint's syndrome. 1637 13