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Biomedical subjects

S Bösch

Publications and source records attributed to S Bösch.

At least 19 recordsLinked to original sources
PubMed2003

The cerebellum and cognition. Intellectual function in spinocerebellar ataxia type 6 (SCA6).

The aim of this study was to assess cognitive function in patients with spinocerebellar ataxia type 6 (SCA6), an autosomal-dominantly inherited disease leading to a progressive cerebellar syndrome. In contrast to other SCA types, the pathological changes are mostly restricted to the cerebellum. Cognitive function was studied in 12 patients with genetically confirmed SCA6 (mean duration of disease: 9.2 +/- 11.6 years) and 12 age- and IQ-matched controls using a test battery comprising tests for IQ, attention, verbal and visuospatial memory, as well as executive function. While none of the SCA6 subjects had features of general intellectual impairment, only mild deficits in single subtests especially in fronto-executive tasks were observed, but without reaching statistical significance. Thus the current findings do not demonstrate severe cognitive dysfunction in SCA6.

Adult↗
PubMed2003

Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3.

Cognitive impairment was studied in distinct types of spinocerebellar ataxia (SCA): eleven SCA1, 14 SCA2, and 11 SCA3 individuals and 8 age- and IQ- matched controls. All were submitted to a neuropsychological test battery that comprised tests for IQ, attention, executive function, verbal and visuospatial memory. Executive dysfunction was prominent in SCA1 as compared with controls and all other SCA types. Mild deficits of verbal memory were present in SCA1, SCA2 and SCA3. The neuropathological pattern in different SCA types suggests that these cognitive deficits are not likely to be contingent upon cerebellar degeneration but to result from disruption of a cerebrocerebellar circuitry presumably at the pontine level.

Age of Onset↗
PubMed2001

The auditory startle reaction in parkinsonian disorders.

The auditory startle reaction to an unexpected loud stimulus is regarded as a brainstem reflex originating in the nucleus reticularis pontis caudalis and being distributed up the brainstem and down the spinal cord along slowly conducting pathways. Auditory startle responses (ASR) have been reported absent or reduced in progressive supranuclear palsy (PSP), and delayed in Parkinson's disease (PD), but normal in multiple-system atrophy (MSA). For the first time we studied ASR in patients fulfilling the clinical criteria of dementia with Lewy bodies (DLB) (n = 8), a neurodegenerative disorder characterized by cortical and subcortical depositions of Lewy bodies resulting in parkinsonism and progressive cognitive decline. For comparison, we also investigated patients with PD (n = 10), MSA (n = 7), PSP (n = 10), and age-matched healthy controls (n = 10). ASR were elicited by binaural high-intensity auditory stimuli. Surface electromyographic activity was simultaneously recorded from facial, upper, and lower extremity muscles. For each muscle, we assessed response probability and measured latency, amplitude, duration, and habituation rate. Patients with DLB had fewer and abnormally delayed ASR of low amplitude and short duration in extremity muscles compared to healthy controls. Furthermore, we confirm and extend previous findings of abnormal ASR in PSP and PD, and also demonstrate exaggerated ASR in extremity muscles of MSA patients. The different patterns of ASR abnormalities may reflect distinct types of brainstem dysfunction in DLB.

Acoustic Stimulation↗
PubMed2001

Sporadic cerebellar ataxia associated with gluten sensitivity.

A total of 104 patients with sporadic cerebellar ataxia were tested for antigliadin and antiendomysium antibodies. Twelve individuals (11.5%) with gluten sensitivity underwent duodenal biopsy and extensive clinical, electrophysiological, neuropsychological, radiological and laboratory investigations including human leucocyte antigen (HLA) typing. Two patients showed typical changes of gluten-sensitive enteropathy with crypt hyperplasia and mucosal flattening. In five patients, the intraepithelial lymphocyte count was elevated. Sporadic ataxia with gluten sensitivity was found to be tightly linked to the HLA DQB1*0201 haplotype (70%). Neurological symptoms were not related to hypovitaminosis or inflammatory CSF changes. The clinical syndrome was dominated by progressive cerebellar ataxia with ataxia of stance and gait (100%), dysarthria (100%) and limb ataxia (97%). Oculomotor abnormalities were gaze-evoked nystagmus (66.7%), spontaneous nystagmus (33.3%), saccade slowing (25%) and upward gaze palsy (16.7%). Extracerebellar features also included deep sensory loss (58.3%), bladder dysfunction (33.3%) and reduced ankle reflexes (33.3%). In accordance with clinical findings, electrophysiological investigations revealed prominent axonal neuropathy with reduced amplitudes (50%) and abnormal evoked potentials (58.3%). On neuropsychological testing, patients presented with moderate verbal memory and executive dysfunction. All patients had evidence of cerebellar atrophy on MRI. We conclude that sporadic ataxia may be associated with positive antibodies against gliadin. Nevertheless, mucosal pathology does not represent an obligatory condition of ataxia with gluten sensitivity. The fact that the disease is strongly associated with the same HLA haplotypes found in coeliac disease not only demonstrates coeliac disease and ataxia with gluten sensitivity to be part of the same disease entity but supports the hypothesis of an immunological pathogenesis of cerebellar degeneration.

Adult↗
PubMed2001

Executive dysfunction in spinocerebellar ataxia type 1.

Fourteen patients with spinocerebellar ataxia 1 (SCA1) and 11 controls with similar mean age and IQ estimates were submitted to a neuropsychological test battery comprising tests for IQ, attention, verbal and visuospatial memory as well as executive functions. Neuropsychological assessment yielded verbal memory and executive dysfunction while tests of visuospatial memory and attention were not significantly impaired in SCA1 as compared to controls. Test performance was neither related to the repeat length, the age of onset nor the disease duration. The profile of cognitive impairment in SCA1 with prominent executive dysfunction corresponds to the concept of "frontal-subcortical" dementia that is likely to be contingent upon disruption of a cerebrocerebellar circuitry that consists of afferent and efferent connections between the prefrontal cortex and the cerebellum.

Adult↗
PubMed2000

Beneficial effects of amantadine on L-dopa-induced dyskinesias in Parkinson's disease.

L-Dopa-induced dyskinesias constitute a challenge to the management of advanced Parkinson's disease. According to recent reports, treatment with the NMDA receptor antagonist amantadine may significantly diminish L-dopa-induced dyskinesias. In the present study, the effect of amantadine on L-dopa-induced dykinesias was assessed in a 5-week, double-blind crossover trial. Dyskinesia severity as assessed following oral L-dopa challenges and by self-scoring dyskinesia diaries were reduced approximately 50% after amantadine treatment compared with baseline or placebo phases. Similarly, dyskinesia assessments on the Unified Parkinson's Disease Rating Scale, part IV (items 32 and 33) also revealed significant improvement after treatment with amantadine. The magnitude of the L-dopa motor response to oral challenges was not different after amantadine or placebo treatment, and there was no significant reduction of daily off-time when patients received active treatment. These results confirm previous observations concerning the antidyskinetic potential of amantadine.

Aged↗
PubMed2000

Study of full-length porcine endogenous retrovirus genomes with envelope gene polymorphism in a specific-pathogen-free Large White swine herd.

Specific-pathogen-free (SPF) swine appear to be the most appropriate candidate for pig to human xenotransplantation. Still, the risk of endogenous retrovirus transmission represents a major obstacle, since two human-tropic porcine endogenous retroviruses (PERVs) had been characterized in vitro (P. Le Tissier, J. P. Stoye, Y. Takeuchi, C. Patience, and R. A. Weiss, Nature 389:681-682, 1997). Here we addressed the question of PERV distribution in a French Large White SPF pig herd in vivo. First, PCR screening for previously described PERV envelope genes envA, envB, and envC (D. E. Akiyoshi, M. Denaro, H. Zhu, J. L. Greenstein, P. Banerjee, and J. A. Fishman, J. Virol. 72:4503-4507, 1998; Le Tissier et al., op. cit.). demonstrated ubiquity of envA and envB sequences, whereas envC genes were absent in some animals. On this basis, selective out-breeding of pigs of remote origin might be a means to reduce proviral load in organ donors. Second, we investigated PERV genome carriage in envC negative swine. Eleven distinct full-length PERV transcripts were isolated. The sequence of the complete envelope open reading frame was determined. The deduced amino acid sequences revealed the existence of four clones with functional and five clones with defective PERV PK-15 A- and B-like envelope sequences. The occurrence of easily detectable levels of PERV variants in different pig tissues in vivo heightens the need to assess PERV transmission in xenotransplantation animal models.

Amino Acid Sequence↗
PubMed1999

Cognitive deficits in spinocerebellar ataxia 2.

This is one of the first studies assessing the pattern of cognitive impairment in spinocerebellar ataxia 2 (SCA2). Cognitive function was studied in 17 patients with genetically confirmed SCA2 and 15 age- and IQ- matched controls using a neuropsychological test battery comprising tests for IQ, attention, verbal and visuospatial memory, as well as executive functions. Twenty-five percent of the SCA2 subjects showed evidence of dementia. Even in non-demented SCA2 subjects, there was evidence of verbal memory and executive dysfunction. Tests of visuospatial memory and attention were not significantly impaired in the non-demented group compared with controls. There was no relationship between test performance and motor disability, repeat length or age of onset, while disease duration was shown to be inversely correlated with two tests reflecting the progression of cognitive deficits during the course of the disease. Intellectual impairment should therefore not be interpreted as a secondary effect of progressive motor disability, but represents an important and independent part of the SCA2 phenotype.

Adult↗
PubMed1999

Time course of symptomatic orthostatic hypotension and urinary incontinence in patients with postmortem confirmed parkinsonian syndromes: a clinicopathological study.

OBJECTIVE: Although both orthostatic hypotension and urinary incontinence have been reported in a number of parkinsonian syndromes, such as Parkinson's disease (PD), multiple system atrophy (MSA), dementia with Lewy bodies (DLB), corticobasal degeneration (CBD), and progressive supranuclear palsy (PSP), differences in the evolution of these features have not been studied systematically in pathologically confirmed cases. METHODS: 77 cases with pathologically confirmed parkinsonian syndromes (PD, n=11; MSA, n=15; DLB, n=14; CBD, n=13; PSP, n=24), collected up to 1994, formed the basis for a multicentre clinicopathological study organised by the NINDS to improve the differential diagnosis of parkinsonian disorders. The present study determined the time course-that is, latency to onset and duration from onset to death, of symptomatic orthostatic hypotension, and urinary incontinence in the NINDS series. Furthermore, the diagnostic validity of a predefined latency to onset within 1 year of disease onset of symptomatic orthostatic hypotension or urinary incontinence was analysed. RESULTS: Significant group differences for latency, but not duration, of symptomatic orthostatic hypotension and urinary incontinence were found. Latencies to onset of either feature were short in patients with MSA, intermediate in patients with DLB, CBD, and PSP, and long in those with PD. Symptomatic orthostatic hypotension occurring within the first year after disease onset predicted MSA in 75% of cases; early urinary incontinence was less predictive for MSA (56%). CONCLUSION: Latency to onset, but not duration, of symptomatic orthostatic hypotension or urinary incontinence differentiates PD from other parkinsonian syndromes, particularly MSA.

Age of Onset↗
PubMed1998

A study of emotional processing in Parkinson's disease.

This study investigated three aspects of processing materials with emotional content in patients with idiopathic Parkinson's disease (PD): the ability to produce affective prosody, to discriminate affectively loaded speech, and to detect the surprise element in humorous sketches. Study aims were the characterization of an emotional processing deficit, and to test whether impaired emotional processing is mental state dependent. Forty-eight nondemented PD patients were divided according to neuropsychological criteria into a sample with intact mental functions and a sample with mild to moderate cognitive deterioration, particularly memory impairment. PD patients with intact cognitive functions were solely impaired at producing affectively loaded sentences, but otherwise displayed normal emotional processing abilities as compared to a clinical control group. PD patients with mental impairment were significantly disabled on all three tasks. The observed emo tional processing deficit was not related to variables like age, disease duration, de gree of functional impairment, motor disability or depression. Active and receptive emotional prosody were significantly correlated. Further strong positive correlations were found between the ability to disclose pictorial humour and tasks of visuoconceptual knowledge, as well as between the ability to produce affectively loaded speech and years of schooling. These results were interpreted as indicating that not only the production of emotional prosody, but also its recognition and the discovery of pictorial humour are reduced in a subgroup of PD patients with mental impairment. Impaired emotional processing skills are mental state dependent findings in PD which seem to be independent from demographic or disease variables and may indicate beginning dementia.

Affect↗
PubMed1997

Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3.

Forty-one patients suffering from autosomal dominant cerebellar ataxia type I (ADCA-I) were subjected to a genotype-phenotype correlation analysis using molecular genetic assignment to the spinocerebellar ataxia type 1, 2 or 3 (SCA1, -2 or -3) genetic locus, clinical examination and nerve conduction as well as evoked potential studies. Pyramidal tract signs, pale discs, and dysphagia were more frequent in SCA1 compared with SCA2 and SCA3 patients, while double vision occurred less frequently. Visual evoked potentials and motor evoked potentials following transcranial magnetic stimulation were abnormal in almost all SCA1 patients, but only in a minority of SCA2 and SCA3 patients. In contrast, somatosensory evoked potentials were delayed or absent in the majority of patients with no significant differences between the mutations. Abnormalities of brainstem auditory evoked potentials were found in about half of the patients irrespective of the underlying mutation. In addition, reduced sensory nerve action potentials, suggesting sensory axonal neuropathy were found in all three mutations. These findings provide electrophysiological evidence that pyramidal and visual pathways are differentially affected in SCA1, SCA2 and SCA3 patients.

Action Potentials↗
PubMed1996

Cerebral Venous Thrombosis - A New Diagnosis in Travel Medicine?

Cerebral venous thrombosis is a syndrome seen in association with a large number of disease processes. The commonest reported causes in adults are oral contraception,1 pregnancy and complications associated with the postpartum period,2 systemic malignancy,3 and infection.4 In approximately 20% of adult cases reported during the past 20 years no etiology was established.5 Cerebral venous thrombosis can be caused by similar mechanisms, such as venous thrombosis, occurring elsewhere in the body, e.g., blood vessel wall alterations attributable to inflammation, infection, or invasion of malignant cells, as well as from changes in blood flow due to dehydration and changes in the coagulability of the blood (e.g., from use of oral contraception). PC Gates and HJM Barnett list 38 causes of cerebral venous thrombosis that were proven by angiography or autopsy. One item on their list was dehydration/ hyperpyrexia.5 Recently thrombosis of the venae saphena or femoralis/iliaca has been reported to occur in long distance air travelers.6 We would like to report on five patients (out of 15) in whom cerebral venous thrombosis was causatively linked with either long distance air travel alone, air travel and diarrhea, or air travel and exposure to tropical heat.

Journal Article↗
PubMed1995

[Magnetic resonance angiography of intracranial aneurysms after subarachnoid hemorrhage].

Magnetic resonance angiography is now commercially available for a variety of scanners and is being increasingly applied in the diagnosis of cerebrovascular disorders. Considering the clinical consequences, especially in intracranial aneurysms, studies to determine the sensitivity and specificity of the method are essential. Here we report our experience with a 3D-FISH time-of-flight magnetic resonance angiography protocol in 52 patients who have suffered an acute subarachnoid hemorrhage. In 26 of the 52 patients, conventional angiography identified 31 aneurysms (3-20 mm) that were confirmed during surgery or autopsy. Magnetic resonance angiography correctly identified 28 of the 31 aneurysms (sensitivity 90.3%) and missed one ruptured (3 mm) and two incidental aneurysms (3 mm) in patients with multiple aneurysms. The sensitivity for a ruptured aneurysm was 96%. The 26 patients who suffered subarachnoid hemorrhage without evidence of an intracranial aneurysm on repeated angiography served as a control group. Magnetic resonance angiography revealed no false-positive findings, resulting in a specificity of 100%. In correlation with the literature, we conclude that magnetic resonance angiography is not sensitive enough for the management of acute subarachnoid hemorrhage. However, the method provides important complementary information for definition of the bleeding site in patients with multiple aneurysms. In addition, the calculation of projections not possible with conventional angiography can aid surgical planning. Since only very small aneurysms were missed by magnetic resonance angiography, the sensitivity seems appropriate to screen asymptomatic patients who are at risk for intracranial aneurysms.

Adolescent↗
PubMed1994

Acute cerebellar ataxia after immunisation with recombinant hepatitis B vaccine.

We report one woman with acute cerebellar ataxia (ACA), a well-defined clinical syndrome, which occurred 10 days after the second vaccination with recombinant hepatitis B vaccine. The patient had no previous symptoms or signs of neurological disease and there was no evidence of neurologic disease in the family history. Within nine months the symptoms remitted completely according to other reports of ACA. As there was a close temporal connection and no noticeable other cause we assume a causal link between the vaccination and the disease. As far as we known this is the first case of ACA after hepatitis B vaccination.

Acute Disease↗