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The extent and distribution of biochemical abnormalities thought to reflect disorders of subpopulations of neurons have been determined in the cerebral cortex from brains of patients with Alzheimer-type dementia and depressive illness who died of natural causes. In dementia, loss of gray matter from areas of the parietal and temporal lobes is most obvious.(More)
Since there is a need for cost-effective screening techniques to identify neuropsychological impairment in multiple sclerosis (MS) patients, and because existing methods require cognitive testing with subsequent interpretation by a neuropsychologist, a brief self-report procedure was developed to screen for neuropsychological impairment in MS. In the first(More)
Excitatory dicarboxylic amino acids previously have been ascribed several functions in the brain. Here their total concentration and proposed neurochemical markers of neurotransmitter function have been measured in brain from patients with Alzheimer's disease (AD) and controls. Specimens were obtained antemortem (biopsy) approximately 3 years after(More)
A term female infant had the clinical manifestations and accompanying electrophysiologic studies to fulfill the criteria of Guillain-Barré syndrome. At birth, she presented with generalized hypotonia, paucity of lower limb movements, and diminished muscle stretch reflexes. At 3 weeks of age, motor nerve conduction studies demonstrated evidence of(More)
The ancestral glycoprotein hormone thyrostimulin is a heterodimer of unique glycoprotein hormone subunit alpha (GPA)2 and glycoprotein hormone subunit beta (GPB)5 subunits with high affinity for the TSH receptor. Transgenic overexpression of GPB5 in mice results in cranial abnormalities, but the role of thyrostimulin in bone remains unknown. We hypothesized(More)
BACKGROUND Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a hereditary, adult onset leukodystrophy which is characterised by the presence of axonal loss, axonal spheroids and variably present pigmented macrophages on pathological examination. It most frequently presents in adulthood with dementia and personality change. HDLS has(More)
Magnetic resonance imaging has been found to be useful in assessing brain myelination and provides information on brain maturation. The normal pattern of brain myelination conforms to a fixed sequence, with good pathologic and MRI correlation. Neuropathologic analysis of myelination has shown delayed central myelination in Down syndrome. Delayed myelination(More)
The marked heterogeneity of nemaline myopathy is again shown in the present series of 13 patients. Most children have a long-standing, mild, and slowly progressing proximal myopathy. Two brothers with extreme weakness died during the neonatal period of respiratory failure representing the X-linked variant. One adult with proximal weakness was also diagnosed(More)
Children, adolescents, and young adults with temporal lobectomy judged the context of their encounters with a word (by deciding about its prior occurrence or familiarity) and also identified word attributes involving associative content and serial order (by indicating word meanings and reconstructing word sequences). Laterality of temporal lobectomy was(More)
BACKGROUND Cardiovascular magnetic resonance (CMR) derived native myocardial T1 is decreased in patients with Fabry disease even before left ventricular hypertrophy (LVH) occurs and may be the first non-invasive measure of myocyte sphingolipid storage. The relationship of native T1 lowering prior to hypertrophy and other candidate early phenotype markers(More)