Arch Neurol Chicago
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Arch Neurol Chicago · Nov 2003
Case ReportsIdentification of new presenilin gene mutations in early-onset familial Alzheimer disease.
Mutations in the presenilin 1 (PS1) and presenilin 2 (PS2) genes, and more rarely in beta-amyloid precursor protein (betaAPP), underlie the pathogenesis of most cases of familial Alzheimer disease (FAD). ⋯ One novel PS2 mutation associated with highly penetrant but variable age at onset (35-85 years) and 2 novel PS1 missense mutations associated with early-onset Alzheimer disease at age 49 to 54 years have been identified in Italian families. Screening for new mutations in presenilin and betaAPP genes was beneficial in characterizing gene function in FAD.
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Arch Neurol Chicago · Oct 2003
Chronic cognitive impairment following laterothalamic infarcts: a study of 9 cases.
The occlusion of the lateral thalamic arteries leads to infarcts of ventrolateral thalamic nuclei, the ventroposterior nucleus, and the rostrolateral part of pulvinar, and produces hemisensory loss with or without hemiataxia. Cognitive impairment after such strokes has not been systematically studied. ⋯ Our observations show that while learning, naming, and gnosic difficulties fit with the classical verbal/nonverbal dichotomy (left and right hemisphere, respectively), executive dysfunctions, including verbal fluency tasks, were more dominant after right thalamic infarcts. Although the observed deficits appeared to be less severe than those generally found with dorsomedial and polar thalamic strokes, the dominance of executive dysfunction suggests that ventrolateral thalamic lesions may disrupt frontothalamic subcortical loops.
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Pain is an important symptom in patients with multiple sclerosis (MS). The estimated pain prevalence varies between 30% and 90%. To our knowledge, previous studies do not include a whole population sample of patients with MS. ⋯ The frequency of reported pain in MS patients was not higher than in the background population. However, pain intensity, the need for analgesic treatment, and the impact of pain on daily life were higher in MS patients.
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Arch Neurol Chicago · Jul 2003
Comparative StudyCinguloparietal atrophy distinguishes Alzheimer disease from semantic dementia.
Progressive brain atrophy is associated with Alzheimer disease (AD) and other dementias. Regional differences in brain atrophy may reflect clinical features of disease. ⋯ Alzheimer disease is associated with a specific pattern of cortical atrophy compared with SD.