Neurology
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Comparative Study
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), or Nasu-Hakola disease, is a presenile dementia associated with loss of myelin, basal ganglia calcification, and bone cysts. It is caused by recessively inherited mutations in two genes encoding subunits of a cell membrane-associated receptor complex: TREM2 and DAP12. The clinical course of PLOSL has not been characterized in a series of patients with TREM2 mutations. ⋯ Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy should be considered in adult patients under age 50 years with dementia and basal ganglia calcification. Radiographs of ankles and wrists, and DNA test in uncertain cases, confirm the diagnosis.
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To describe the diagnostic classification of subjects with incident vascular dementia (VaD) participating in the Cardiovascular Health Study (CHS) Cognition Study. ⋯ None of the clinical criteria for VaD identified the same group of subjects. The diagnosis of vascular dementia is difficult in epidemiologic studies because poststroke dementia can be due to Alzheimer disease (AD) and evidence of vascular disease can be found in the MRI of dementia cases without clinical strokes. Whether the clinical progression is related to AD pathology or vascular disease is difficult to establish.
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To examine the severity of impairments in the decision-making abilities (understanding, appreciation, reasoning, and choice) and competency to make a decision to use an Alzheimer disease (AD)-slowing medication in patients with AD and the relationships between these impairments, insight, and overall cognition. ⋯ Persons with mild to moderate Alzheimer disease (AD) have notable impairments in their ability to make an AD treatment decision, especially persons with moderate AD and persons who lack awareness of symptoms, prognosis, or diagnosis.