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Biomedical subjects

F Boller

Publications and source records attributed to F Boller.

At least 19 recordsLinked to original sources
PubMed2004

Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).

Familial idiopathic basal ganglia calcification (IBGC, Fahr disease) is an inherited neurologic condition characterized by basal ganglia and extra-basal ganglia brain calcifications, parkinsonism, and neuropsychiatric symptoms. The authors examined six families for linkage to the previously identified genetic locus (IBGC1) located on chromosome 14q. The authors found evidence against linkage to IBGC1 in five of the six families supporting previous preliminary studies demonstrating genetic heterogeneity in familial IBGC.

Basal Ganglia Diseases↗
PubMed2002

Maurice Ravel and right-hemisphere musical creativity: influence of disease on his last musical works?

The problem of finding correspondence between a particular neuronal organization and a specific function of the human brain remains a central question of neuroscience. It is sometimes thought that language and music are two sides of the same intellectual coin, but research on brain-damaged patients has shown that the loss of verbal functions (aphasia) is not necessarily accompanied by a loss of musical abilities (amusia). Amusia without aphasia has also been described. This double dissociation indicates functional autonomy in these mental processes. Yet verbal and musical impairments often occur together. The global picture that emerges from studies of music and its neural substrate is by no means clear and much depends on which subjects and which aspect of musical abilities are investigated. An illustration of these concepts is provided by the case of the French composer Maurice Ravel, who suffered from a progressive cerebral disease of uncertain aetiology, with prominent involvement of the left hemisphere. As a result, Ravel experienced aphasia and apraxia and became unable to compose. The available facts favour a clinical diagnosis of primary progressive aphasia (PPA), with the possibility of an overlap with corticobasal degeneration (CBD). In view of Ravel's clinical history, we propose that two of his final compositions, the Bolero and the Concerto for the Left Hand, include certain patterns characteristic of right-hemisphere musical abilities and may show the influence of disease on the creative process.

Aphasia↗
PubMed2002

Factorial validation of the Severe Impairment Battery for patients with Alzheimer's disease. A pilot study.

The Severe Impairment Battery (SIB) estimates the cognitive aptitudes and other skills of severely impaired dementia patients. The main objective of this pilot study was to clearly identify the number of factors present in the SIB and to analyze the relationships between the different cognitive domains explored by the SIB and loss of autonomy. We administered the SIB, the Mini Mental State Examination (MMSE) and two scales of dependency to 48 patients with Alzheimer's disease in its late stages. A factorial analysis (Principal Components Analysis) showed a 4-factor solution for the SIB: a cognitive factor, a praxis and visuospatial functions factor, the reactivity to external stimuli factor and the social aptitudes factor. A factorial analysis involving the dependency scales showed a cognitive factor, a dependency and constructional praxis factor, the reactivity to external stimuli factor and the social aptitudes factor. Reactivity to external stimuli and social aptitudes were not significantly correlated to cognitive aspects nor to dependency. The finding of dependency as a factor different from cognitive deterioration suggests that, in setting a treatment strategy for demented patients, attempts should be made to treat dependency in its own right. In addition, since reactivity to external stimuli and social aptitudes are not related to cognitive aspects nor to dependency, these functions should also be encouraged and stimulated.

Alzheimer Disease↗
PubMed2001

Neuropsychological tests in Alzheimer's disease.

The recent development of symptomatic pharmacological treatment for Alzheimer's disease (AD) and the probable introduction of new therapies in a near future make the assessment of dementia at its different stages an even greater scientific and public health challenge. Neuropsychological tests, together with clinical data, are at present the only in vivo non-invasive screening and diagnostic tools for AD and related disorders. This chapter reviews the application to AD of standard batteries and short screening tests. It also analyzes the tests to be applied to detect and assess the specific deficits of the disease, and discusses the advantages and flaws of current screening and diagnostic tests of dementia. Emphasis is placed on the need to devise and use tests developed in a rational manner, with high sensitivity and specificity, not only in the moderate stages of the disease, but also in the very early and even "preclinical" stages, as well as during the late stages (severe dementia). It is known that neuropsychological tests allow one to determine various patients' profiles. Future research should determine the possible predictive value of these profiles. This has important implications for therapeutic trials. The current implicit assumption that all patients with AD tend to evolve and decline in a similar fashion needs to be critically re-examined.

Aged↗
PubMed2001

Association of the apolipoprotein E epsilon4 allele with late-onset depression.

Apolipoprotein E (ApoE) phenotyping was determined in 42 subjects with Alzheimer's disease (AD), 49 with depression, including 26 with early-onset depression (EOD) and 23 with late-onset depression (LOD), and 49 controls. In the EOD group, the frequency of the ApoE epsilon4 allele was not different from the control frequency (p = 0.532) but was significantly lower than in AD (p < 0.001). In the LOD group, the ApoE epsilon4 frequency was significantly higher than in the controls (p = 0.034) but was not different from that in the AD group (p = 0.229). Individuals with ApoE epsilon4 were at greater risk of getting AD (odds ratio, OR = 5.5, 95% confidence interval, CI, 2.0-14.0) or LOD (OR = 6.1, 95% CI, 1.9-19.0) than of EOD (OR = 0.7, 95% CI, 0.2-2.5). These results suggest an association between the ApoE epsilon4 allele frequency and LOD. Patients with LOD could be at risk of developing AD by an epsilon4-dependent pathway.

Age of Onset↗
PubMed2000

Absence of amusia and preserved naming of musical instruments in an aphasic composer.

M.M., a right-handed, 74 year old professional musician and composer, presented with a progressive aphasia with a severe anomia. His musical competence was apparently totally preserved, and he continued his activity as a composer. There was a striking discrepancy between his impaired naming of nonmusical stimuli and his normal naming of musical instruments' sounds. We suggest that the preservation of skills in the musical domain results from an expanded cortical representation of this function in the left hemisphere, secondary to his lifelong formal training, and to the high level of his professional competence. As for his preserved naming of musical instruments, we argue that the early age-of-acquisition and higher than "normal" frequency/familiarity for names of musical instruments facilitate the access to their lexical representation and/or their retrieval within the lexicon.

Aged↗
PubMed2000

The apolipoprotein E epsilon4 allele and the response to tacrine therapy in Alzheimer's disease.

The objective of our study was to evaluate the effects of the apolipoprotein E (ApoE) phenotype and gender on the response to tacrine treatment in Alzheimer's disease (AD). ApoE phenotyping was performed on 76 patients treated with tacrine for AD. This group comprised 33 ApoE epsilon4 allele carriers (epsilon4+) and 43 non-epsilon4 carriers (epsilon4-). Patients were treated blindly in relation to the ApoE phenotype, with incremental tacrine dosages ranging from 40 mg/day up to the highest dosage (160 mg) tolerated without side-effects. At least 6 weeks elapsed between each increase. Changes in the scores for the Alzheimer Disease Assessment Scale-Cognitive Component (ADAS-Cog) between baseline and each increment in dosage were assessed in the epsilon4- and epsilon4+ groups. The cut-off point for being considered as responsive to tacrine treatment was a 4-point decrease in the ADAS-Cog score. There was no tendency for the epsilon4- carriers to respond better than the epsilon4+ carriers. When patients were stratified by gender, no differences were found between the effects of the treatment on men and women. Consequently, these results do not support the hypothesis that the ApoE phenotype and gender are predictors of the response to tacrine in AD patients.

Aged↗
PubMed1999

Psychiatric medication and abnormal behavior as predictors of progression in probable Alzheimer disease.

OBJECTIVE: To examine whether the use of psychiatric medication and the presence of abnormal behaviors affects the progression of Alzheimer disease. DESIGN: Cross-sectional with longitudinal follow-up and the likelihood of arriving at 4 end points: (1) Mini-Mental State Examination score of 9 or lower; (2) Blessed Dementia Rating Scale score of 15 or higher for activities of daily living; (3) nursing home admission; and (4) death, evaluated using a proportional hazard model with 9 variables: psychosis, insomnia, wandering, aggression, psychomotor agitation, depression, and use of antidepressants, antipsychotic agents, or sedatives/hypnotics. SETTING: Multidisciplinary dementia research clinic. PATIENTS: We examined baseline and follow-up behavioral symptoms and the use of psychiatric medication in 179 mildly to moderately impaired patients with probable Alzheimer disease participating in a longitudinal study of dementia. Patients were observed from 2.4 to 172 months (mean duration +/- SD, 49.5+/-27.4 months). RESULTS: Nine patients (5%) were taking sedatives/ hypnotics; 16 (9%), antipsychotic agents; and 22 (12%), antidepressants at study entry. Patients taking antipsychotic agents had lower Mini-Mental State Examination scores and higher Blessed Dementia Rating Scale scores for activities of daily living than patients not taking any medication. Using proportional hazard analysis with time-dependent covariates for individual psychiatric symptoms and medications, we found that the development of psychosis was associated with functional decline (time to Blessed Dementia Rating Scale score of > or =15), institutionalization, aggression, and agitation with functional decline after adjusting for age at study entry, education, Mini-Mental State Examination scores, and Blessed Dementia Rating Scale scores. Use of antipsychotic medication was associated with functional decline, and sedatives/hypnotics with death. Neither the presence of psychiatric symptoms nor use of medication was associated with rate of cognitive decline (time to Mini-Mental State Examination score of < or =9). CONCLUSIONS: These findings indicate that the use of antipsychotic agents and sedatives can affect the natural course of Alzheimer disease. Psychosis, agitation, and aggression are important predictors of outcome, even when the effects of medication to treat them is taken into account.

Aged↗
PubMed1999

1914 to 1917: the Great War years.

In 1914, American and international neurology were already very well developed, but like the other scientific and societal forces of the time, they underwent numerous changes as a result of World War I. This article reviews the state of neurology between 1914 and 1917 as it can be inferred from the journals of the time, the main topics they covered, the meetings, and the neurological societies, as well as some of the actors on the neurology scene during these years. It concludes with a brief survey of the ways in which neurology was changed by the Great War. During these years, neurology was there.

History, 19th Century↗
PubMed1999

History of the International Neuropsychological Symposium: a reflection of the evolution of a discipline.

The International Neuropsychological Symposium is the name of a group which, since 1951, meets every year for the purpose of promoting knowledge and understanding of brain functions and cognate issues on the borderland of neurology, psychology and psychiatry. This paper summarizes the history of the International Neuropsychological Symposium and is intended as a tribute to Henry Hécaen, co-founder and major advocate of the group throughout his entire scientific life. It is felt that the evolution of the Symposium may be considered a reflection of the evolution of the discipline of Neuropsychology and may help to understand the evolution of the field in the past fifty years.

History, 20th Century↗
PubMed1999

In vivo PET study of cerebral [11C] methyl- tetrahydroaminoacridine distribution and kinetics in healthy human subjects.

It is unclear whether the palliative effects of tetrahydroaminoacridine (THA) (tacrine, Cognex) on the clinical symptoms of patients affected by Alzheimer's disease (AD) are the result of its inhibitory activity on acetylcholinesterase or on other complex sites of action. In order to investigate the cerebral distribution and kinetics of THA in the human brain in vivo, we performed positron emission tomography (PET) imaging with [11C]N-methyl-tetrahydro-aminoacridine (MTHA) in healthy human volunteers. After intravenous injection, [11C]MTHA crossed the blood-brain barrier and reached its maximum uptake between 10 and 40 minutes, depending on the brain regions. Uptake was higher in the grey matter structures, and lower in the white matter. After this peak, the radioactivity remained quasi- constant until 60 minutes in all regions with a half-life varying from 2.44 hours in the thalamus to 3.42 hours in the cerebral cortex. The ratios of regional to whole cerebral cortex brain radioactivity calculated between 50 and 70 minutes after the tracer injection were 1.14 +/- 0.04, 1.07 +/- 0. 03 and 1.06 +/- 0.04 in the putamen, cerebellum and thalamus, respectively. Overall, these results show that: (1) [11C]MTHA crosses the blood-brain barrier easily and is highly concentrated in the brain; (2) the regional brain distribution of [11C]MTHA does not parallel that of in vivo acetylcholinesterase (AChE) concentrations; and (3) the cerebral kinetics of [11C]MTHA are consistent with known plasmatic pharmacokinetics of THA in AD patients. We conclude that PET imaging with [11C]MTHA is a useful method for assessing the cerebral distribution and kinetics of THA in vivo.

Aged↗
PubMed1999

Apolipoprotein E phenotypes in demented and cognitively impaired patients with and without cerebrovascular disease.

Controversy exists regarding the apolipoprotein E (ApoE) epsilon4 allele association with vascular dementia (VaD), ranging from increased epsilon4 frequency, similar to that found for Alzheimer's disease (AD), to no association between the epsilon4 allele and VaD. To clarify further the relationship between ApoE alleles polymorphism and cerebrovascular disease (CVD) in demented and cognitively impaired patients, we examined the ApoE phenotypes in a sample of 280 patients: 155 with AD, 21 with VaD, 32 with mixed dementia (MD), 45 with mild cognitive impairment (MCI) but without CVD, and 27 in which vascular disease was the most probable cause of cognitive decline [vascular mild cognitive impairment (VMCI)]. Our results show that the frequency of the ApoE epsilon4 allele in patients over 70 years old with clinically diagnosed VaD and VMCI does not differ significantly from that of controls. In contrast, ApoE epsilon4 allele-bearing individuals had greater risk of having late-onset AD (OR = 8.8; 95% CI 3.7-21.0), or non-vascular cognitive impairment (OR = 7.0; 95% CI 2.5-19.0).

Aged↗