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Biomedical subjects

R J Caselli

Publications and source records attributed to R J Caselli.

At least 37 records · Page 2Linked to original sources
PubMed1998

Hereditary form of parkinsonism--dementia.

In four generations of a family, 13 members were afflicted with an autosomal dominant disorder characterized by young age at onset, early weight loss, and rapidly progressive dopa-responsive parkinsonism, followed later by dementia and, in some, by hypotension. Intellectual dysfunction began with subjective memory loss and objective visuospatial dysfunction and was followed later by decline of frontal lobe cognitive and memory functions. Neuropathological examination in 4 autopsied cases showed neuronal loss in the substantia nigra and locus ceruleus and widespread Lewy bodies, many of them in the cerebral cortex; those in the hypothalamus and locus ceruleus were often of bizarre shapes. Other findings were vacuolation of the temporal cortex, unusual neuronal loss and gliosis in the hippocampus (CA 2/3), and neuronal loss in the nucleus basalis. There were no neuritic plaques, neurofibrillary tangles, or amyloid deposits. Positron emission tomography in 3 patients showed decreased striatal uptake of fluorodopa. Neurochemical analysis of an autopsied brain showed a pronounced decrease in choline acetyltransferase activity in the frontal and temporal cortices and hippocampus and a severe depletion of striatal dopamine with a pattern not typical of classic Parkinson's disease.

Adult↗
PubMed1998

Hippocampal volumes in cognitively normal persons at genetic risk for Alzheimer's disease.

Brain imaging techniques have the potential to characterize neurobiological changes that precede the onset of cognitive impairment in persons at risk for Alzheimer's disease. As previously described, positron emission tomography (PET) was used to compare 11 cognitively normal persons 50 to 62 years of age who were homozygous for the epsilon4 allele of apolipoprotein E and 22 persons without the epsilon4 allele with a reported family history of Alzheimer's dementia who were matched for sex, age, and level of education. The epsilon4 homozygotes had significantly reduced glucose metabolism in the same brain regions as patients with Alzheimer's dementia; the largest reduction was in the posterior cingulate cortex. As described here, magnetic resonance imaging (MRI) was used to compare hippocampal volumes in the same subject groups. The epsilon4 homozygotes showed nonsignificant trends for smaller left and right hippocampal volumes; overall, smaller hippocampal volumes were associated with reduced performance on a long-term memory test. Whereas PET measurements of cerebral glucose metabolism begin to decrease before the onset of memory decline, MRI measurements of hippocampal volume begin to decrease in conjunction with memory decline in cognitively normal persons at risk for Alzheimer's disease.

Aged↗
PubMed1998

Cortical myoclonus in levodopa-responsive parkinsonism.

We observed myoclonic movements of the fingers and wrists in two patients with a levodopa-responsive parkinsonian syndrome most consistent with Parkinson's disease. These patients were studied with electrophysiological techniques. Brief (<50 ms) myoclonic electromyographic discharges showed a time-locked relationship to a focal premovement electroencephalographic potential. Somatosensory-evoked potentials were not enlarged and long-latency reflexes were not grossly exaggerated. This pattern of electrophysiological findings can be distinguished from those previously found in other parkinsonian syndromes. These results provide evidence for a cortical origin of the myoclonus seen in these patients.

Aged↗
PubMed1998

From slowly progressive amnesic syndrome to rapidly progressive Alzheimer disease.

A 57-year-old woman had a neuropsychologically documented 5-year history of a slowly progressive amnesic syndrome followed by a 1-year history of rapidly progressive dementia. There was no family history of dementia. Magnetic resonance imaging failed to show a structural basis, electroencephalography failed to show changes of Creutzfeldt-Jakob disease, and cerebrospinal fluid examination was normal. A diagnosis of Alzheimer disease was confirmed by brain biopsy. The abrupt change in disease course was unique but suggested probable overlap between posited subtypes of Alzheimer disease.

Alzheimer Disease↗
PubMed1997

Giant cell (temporal) arteritis.

Headache is the most frequent symptom for which a patient with giant cell arteritis (GCA) presents to a neurologist. Amaurosis fugax and ischemic optic neuropathy are well recognized complications. Less commonly recognized neurologic complications include transient ischemic attacks, cerebral infarctions, acute confusional states, multi-infarct dementia, ischemic cervical myelopathy, and ischemic mononeuropathies. Because patients with GCA generally respond well to corticosteroid therapy, prompt diagnosis can minimize neurologic damage.

Adrenal Cortex Hormones↗
PubMed1996

Preclinical evidence of Alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein E.

BACKGROUND: Variants of the apolipoprotein E allele appear to account for most cases of late-onset Alzheimer's disease, and persons with two copies of the epsilon 4 allele appear to have an especially high risk of dementia. Positron-emission tomography (PET) has identified specific regions of the brain in which the rate of glucose metabolism declines progressively in patients with probable Alzheimer's disease. We used PET to investigate whether these same regions of the brain are affected in subjects homozygous for the epsilon 4 allele before the onset of cognitive impairment. METHODS: Apolipoprotein E genotypes were established in 235 volunteers 50 to 65 years of age who reported a family history of probable Alzheimer's disease. Neurologic and psychiatric evaluations, a battery of neuropsychological tests, magnetic resonance imaging, and PET were performed in 11 epsilon 4 homozygotes and 22 controls without the epsilon 4 allele who were matched for sex, age, and level of education. An automated method was used to generate an aggregate surface-projection map that compared regional rates of glucose metabolism in the two groups. RESULTS: The epsilon 4 homozygotes were cognitively normal. They had significantly reduced rates of glucose metabolism in the same posterior cingulate, parietal, temporal, and prefrontal regions as in previously studied patients with probable Alzheimer's disease. They also had reduced rates of glucose metabolism in additional prefrontal regions, which may be preferentially affected during normal aging. CONCLUSIONS: In late middle age, cognitively normal subjects who are homozygous for the epsilon 4 allele for apolipoprotein E have reduced glucose metabolism in the same regions of the brain as in patients with probable Alzheimer's disease. These findings provide preclinical evidence that the presence of the epsilon 4 allele is a risk factor for Alzheimer's disease. PET may offer a relatively rapid way of testing future treatments to prevent Alzheimer's disease.

Aged↗
PubMed1996

Tactile agnosia. Underlying impairment and implications for normal tactile object recognition.

In a series of experimental investigations of a subject with a unilateral impairment of tactile object recognition without impaired tactile sensation, several issues were addressed. First, is tactile agnosia secondary to a general impairment of spatial cognition? On tests of spatial ability, including those directed at the same spatial integration process assumed to be taxed by tactile object recognition, the subject performed well, implying a more specific impairment of high level, modality specific tactile perception. Secondly, within the realm of high level tactile perception, is there a distinction between the ability to derive shape ('what') and spatial ('where') information? Our testing showed an impairment confined to shape perception. Thirdly, what aspects of shape perception are impaired in tactile agnosia? Our results indicate that despite accurate encoding of metric length and normal manual exploration strategies, the ability tactually to perceive objects with the impaired hand, deteriorated as the complexity of shape increased. In addition, asymmetrical performance was not found for other body surfaces (e.g. her feet). Our results suggest that tactile shape perception can be disrupted independent of general spatial ability, tactile spatial ability, manual shape exploration, or even the precise perception of metric length in the tactile modality.

Agnosia↗
PubMed1996

Asymmetric cortical degeneration syndromes.

Asymmetric cortical degeneration syndromes (aphasic, perceptual-motor, frontal lobe and bitemporal categories) encompass the majority of atypical cortical dementia patterns. New insights suggest the group is genetically heterogeneous. Debate continues over whether individual syndromes are points along a continuum or distinct nosologic entities.

Aphasia↗
PubMed1995

Progressive apraxia in clinically discordant monozygotic twins.

OBJECTIVE: To determine disease concordancy in the first identical twin with corticobasal degeneration. The patients were 63-year-old, erythrocyte antigen-confirmed monozygotic male twins who were clinically discordant for progressive apraxia caused by corticobasal degeneration. INTERVENTIONS: Neuropsychologic and kinesiologic testing, magnetic resonance imaging, and positron emission tomographic measurements of cerebral metabolic rate for glucose. RESULTS: The affected twin had lower neuropsychologic and kinesiologic test scores than did his brother, particularly on tests sensitive to right-compared with left-hemisphere function; widespread cerebral atrophy, worst in right parietotemporal cortices; and reduced whole-brain cerebral metabolic rate for glucose, worst in right posterior cortices. The clinically asymptomatic twin had normal neuropsychologic and kinesiologic test scores but performed more poorly on tests sensitive to left- compared with right-hemisphere function; had no abnormalities on magnetic resonance imaging; and had left temporoparietal as well as mild whole-brain hypometabolism. CONCLUSIONS: Corticobasal degeneration may remain clinically discordant in identical twins after 7 years. Positron emission tomography and neuropsychologic findings suggest the possibility of a preclinical stage of corticobasal degeneration. There is generalized cortical atrophy in patients with corticobasal degeneration in addition to focal atrophy.

Apraxias↗
PubMed1995

Primary lateral sclerosis: a neuropsychological study.

Nine patients with clinically diagnosed, radiologically supported primary lateral sclerosis underwent cognitive testing. None was demented, but eight had mild cognitive impairment. Performances were most consistently impaired on neuropsychological tests sensitive to frontal lobe functions, followed by tests sensitive to memory. Cognitive testing may be useful in helping to establish a cortical localization in patients with the syndrome of progressive spasticity. There are potential nosologic relations between primary lateral sclerosis and other degenerative frontal lobe syndromes, such as frontal lobe dementia and progressive spasticity with dementia.

Adult↗
PubMed1994

Treatable gait disorder and polyneuropathy associated with high titer serum IgM binding to antigens that copurify with myelin-associated glycoprotein.

We studied clinical and electrodiagnostic features of 9 patients with very high titers (> 1:10,000) of serum IgM binding to a CNS myelin antigen (CMA) preparation that copurified with myelin-associated glycoprotein (MAG). We found that 8 of the 9 patients had a combined syndrome of gait ataxia and polyneuropathy (GAPN) with late-age onset (mean = 70 years of age). In the 8 GAPN patients progressive difficulty with ambulation led to significant functional disability and frequent falling. Examination showed a wide-based unsteady gait, especially when standing still or turning. There was mild-to-moderate distal sensory loss with involvement of joint position sense only in the toes. Motor changes, when present, were mild and mainly involved distal leg musculature. Treatment of 5 GAPN patients resulted in clear improvement of 2 after intravenous human immunoglobulin and of 3 others after other immunodulating agents. Immune-mediated GAPN syndromes with high titers of serum IgM binding to CMA appear to be treatable causes of gait disorders in older patients.

Aged↗
PubMed1994

The nature of tactile agnosia: a case study.

A chronic tactile agnosic with a small, MRI-documented left inferior parietal infarction underwent detailed somesthetic testing to assess (1) the acquisition of sensory data, (2) the manipulation of somatosensory percept and its association with previous knowledge, and (3) recognition occurring at a deeper taxonomic level. Results suggest that tactile agnosia can arise from faulty high-level perceptual processes, but that the ability to associate tactually defined objects and object parts with episodic memory can be preserved. Consistent with anatomic and physiologic studies in nonhuman primates, inferior parietal cortex (including Brodmann area 40, possibly area 39) appears to serve as a high-level somatosensory region.

Agnosia↗
PubMed1993

Rapidly progressive aphasic dementia and motor neuron disease.

Articulatory and language impairment heralded rapidly progressive motor neuron disease in 7 patients aged 54 to 77 years. One patient had a family history of a similar disorder. Severe nonfluent aphasia developed in all 7 patients and 4 were anarthric within a year. Other cognitive domains were impaired, yet 2 patients lived alone until 1 month before their deaths. Four died within 2 years. Abnormalities were found on electromyography, computed tomography, magnetic resonance imaging, single-photon emission computed tomography, and electroencephalography. Neuropathological examination in 3 patients showed bilateral hemispheric atrophy with neuronal loss and gliosis predominantly of superficial cortical layers. Pigmented and hypoglossal nuclei were relatively preserved. At all spinal levels there was degeneration of corticospinal tracts and loss of anterior horn cells with gliosis. Rapidly progressive aphasic dementia and motor neuron disease are a distinctive clinical entity whose nosology is poorly understood.

Aphasia↗
PubMed1993

Chronic inflammatory meningoencephalitis should not be mistaken for Alzheimer's disease.

We describe two patients with a chronic encephalopathy that clinically resembled dementia but that resolved after oral administration of high-dose corticosteroid therapy. Both patients had serologically documented Sjögren's syndrome, a diagnosis that was further supported by biopsy of a salivary gland in one. Neither patient had radiologic evidence of vasculitis of the central nervous system. In one patient, meningeal and brain biopsy specimens showed perivascular inflammatory lymphocytic infiltrates. Chronic inflammatory meningoencephalitis is a treatable cause of chronic encephalopathy that should be clinically distinguished from dementia associated with Alzheimer's disease.

Aged↗
PubMed1993

Simultanagnosia as the initial sign of degenerative dementia.

In a study of 10 patients with degenerative brain disease that manifested as simultanagnosia, our aims were (1) to elucidate their clinical, neuropsychologic, and radiologic findings to determine whether these patients might represent a group distinguishable from those with typical Alzheimer's disease and (2) to help clinicians recognize this entity. All patients were initially examined by ophthalmologists because of visual difficulties, and the simultanagnosia remained undiagnosed until nonophthalmologic complaints developed. Optic ataxia developed in six patients, and all patients had mildly impaired eye movements. All 10 patients could identify colors appropriately. Nine patients had language deficits (anomia, decreased auditory comprehension, alexia, and agraphia) but were fluent and had relative preservation of sentence repetition, and four performed in the normal range on a test of associative fluency. Two patients scored in the normal range on memory tests, all had preserved insight, and nine had no family history of degenerative dementia. The mean age at onset of the disorder was 60 years (range, 50 to 69). Neuroimaging disclosed prominent bilateral occipitoparietal atrophy in nine patients and generalized atrophy in one. With this unusual but consistent clinical, neuropsychologic, and anatomic profile, these patients are clinically distinguishable from those with typical Alzheimer's disease, but until a specific cause has been found, we cannot be certain that they constitute a specific biologic entity. Clinicians should consider this diagnosis in relatively young patients who have slowly progressive nonocular visual complaints.

Aged↗
PubMed1993

Ventrolateral and dorsomedial somatosensory association cortex damage produces distinct somesthetic syndromes in humans.

Five somatosensory cortices have distinctive somatotopic representations, cytoarchitecture, and connectivity: primary somatosensory cortex (SI), ventrolateral association cortices (SII, SIII, and SIV), and dorsomedial association cortex (supplementary sensory area). Patients with focal lesions of ventrolateral (n = 5) and dorsomedial (n = 6) somatosensory association cortices (SACs) and hemiparetic (n = 8) and neurologically normal control patients (n = 14) underwent detailed somesthetic testing that encompassed basic, intermediate, and complex (tactile object recognition) somesthetic functions. Dorsomedial lesions acutely caused severe disruption of somesthetic processing and severe apraxia when the area of damage was extensive and involved anterior and posterior cortices. In contrast, ventrolateral lesions caused tactile agnosia. Chronically, sensorimotor function following dorsomedial damage improved considerably. Tactile agnosia following ventrolateral damage, however, was readily detectable for years following onset. Functional differences between ventrolateral and dorsomedial SACs may reflect parallel processing in dual somatosensory systems.

Aged↗
PubMed1993

Neurologic aspects of giant cell (temporal) arteritis.

Headache is the most frequent symptom for which a patient with giant cell arteritis (GCA) presents to a neurologist. Amaurosis fugax and ischemic optic neuropathy are well-recognized complications. Less commonly recognized neurologic complications include transient ischemic attacks, cerebral infarctions, acute confusional states (due to multi-infarct dementia), ischemic cervical myelopathy, and ischemic mononeuropathies. Because patients with GCA generally respond well to corticosteroid therapy, prompt diagnosis can minimize neurologic damage.

Cerebrovascular Disorders↗