Refsum's disease. A unique case.

Refsum's disease, or heredopathia atactica polyneuritiformis, is a peroxisomal disorder leading to the accumulation of phytanic acid throughout the body. It affects sensory and motor neurons and the skeletal system. Peripheral neuropathy, ataxia, blindness, deafness, and skeletal hyperostosis are significant findings used in the diagnosis of the disease.

Validation of cognitive and functional assessment instruments in vascular dementia.

Vascular dementia is a common and potentially reversible type of dementing illness. Simple, yet valid, assessment instruments are needed to quantitate the severity of cognitive and functional impairment in vascular dementia patients seen in consultation or studied in therapeutic trails. Among sixty-three patients with known ischemic cerebrovascular disease, we found thirteen who satisfied research criteria for vascular dementia, nineteen who were "borderline" and thirty-one who were not demented. We administered the Cognitive Capacity Screening Examination and the Functional Activities Questionnaire to these patients and found both tests capable of distinguishing demented from nondemented groups with a high degree of sensitivity and specificity. This battery of assessment instruments was especially helpful in evaluating patients who fell into the "borderline" category. Both tests can be easily administered at the bedside or during routine office visits.

Magnetic resonance imaging in vascular dementia.

Patients with vascular dementia show distinctive white matter lesions on MRI. We performed MRI on 34 patients with documented ischemic cerebrovascular disease to see whether demented and nondemented patients differ with respect to enlarged CSF spaces or white matter lesions. All eight demented patients had white matter lesions on MRI, just as did many borderline and nondemented patients. Enlargement of central CSF spaces was the only radiographic feature that was seen more commonly in demented than in nondemented patients with ischemic cerebrovascular disease.

Natural history of the vascular dementias: a prospective study of seven cases.

The clinical course of vascular dementia has been described as a stepwise deterioration over time. We studied the chronologic course of cognitive performance over 1-4 years in seven patients with known ischemic cerebrovascular disease whose dementia subtype was assigned according to the clinical history and the pattern of white matter lesions seen on magnetic resonance imaging (MRI). One patient had the lacunar state, three had subcortical arteriosclerotic encephalopathy and three had multiple cortical and subcortical strokes. All were being treated with an antiplatelet agent and six received antihypertensive therapy. Four of the seven vascular dementia patients improved cognitively over the first year. A fluctuating course was eventually seen in all patients. None showed stepwise deterioration of cognitive function over time. The MRI was useful in subclassifying vascular dementia patients, but the clinical course did not appear to vary as a function of the dementia subtype.