Biomedical subjects
Publications and source records attributed to R Marano.
A typical case of Refsum disease with high phytanic acid plasma levels is described. Two siblings showed some features but not the entire clinical spectrum of the disease. The unusual condition of the patient's father, a presumed heterozygotic carrier with characteristic bone abnormalities and a delayed onset retinopathy, is discussed.
Akinesia and mental decline appear to be more appropriate criteria than hyperkinesia for the evaluation of the stage and progression of Huntington's disease (HD). In order to establish the relationship between motor and cognitive impairment in the disease, 20 non-demented HD patients were compared with 44 control subjects with respect to motor and cognitive performance. HD patients were significantly impaired in almost all cognitive functions in comparison with controls. Reaction time (RT) and movement time (MT) were considerably slower in HD patients when compared with controls and with patients with parkinsonism. Hyperkinesias did not correlate with cognitive impairment, but there was a good correlation between RT, MT and cognitive functions. Therefore, it seems that akinesia evaluated by RT and MT is an important sign in HD and proceeds at the same rate as mental decay.
Twenty-one Parkinsonian patients were tested in on and off phases during chronic levodopa therapy for cognitive function, affective status, and evaluation of motor performance with reaction and movement times. A worsening of mood was observed from the on to the off phase. No variation in cognitive performance was observed from the on to the off phase in spite of evident motor changes. Mood changes during on-off variations may reflect involvement of mesocortical and mesolimbic dopaminergic systems.
Neuropsychologic studies on Parkinson's disease have shown an impairment of specific cognitive functions and a greater evidence of dementia. Cognitive alterations are related to the gravity of some peculiar motor symptoms of the disease and show a major role of motor disturbances in intellectual disorders. The concept of bradyphrenia and subcortical dementia still seems to be suitable to define the cognitive disorders of Parkinson's disease.
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