Biomedical subjects

I Uttner

Publications and source records attributed to I Uttner.

15 recordsLinked to original sources

PubMed2006

[Effects of high-dose cortisone therapy on cognition].

Treatment with high-dose corticosteroids over 3-5 days reduces the duration and severity of relapses in patients with multiple sclerosis. Since the benefit of this treatment appears to be dose-dependent, application of ultrahigh steroid doses becomes important. On the other hand, data from basic research and clinical studies indicate potential side effects on mnestic functions. Three recently published studies show that treatment with pulsed corticosteroids induces reversible impaired memory. The effects were independent of the dose administered.

Anti-Inflammatory Agents↗

PubMed2005

Reversible impaired memory induced by pulsed methylprednisolone in patients with MS.

Thirty patients with multiple sclerosis were randomized to 500 or 2,000 mg of methylprednisolone (MP) over 5 days. They were prospectively studied neuropsychologically before and at days 6 and 60 after onset of the therapy, using a double-blind study design. Patients showed selective deterioration of declarative memory retrieval at day 6, which was fully reversible at day 60. Although the sample size was small, these effects were independent of the administered MP dose.

Adolescent↗

PubMed2005

Quantitative evaluation of mirror movements in adults with focal brain lesions.

Mirror movements (MM), involuntary movements of homologous muscles opposite to unilateral limb activity, decrease in the course of motor development, but may reappear in adults after brain damage. To better characterize this type of acquired MM, grip forces of 36 healthy subjects and 35 patients suffering from focal brain lesions were compared. Holding force transducers in a pinch grip between thumb and index fingers of each hand, subjects had to repeatedly change the grip force in one hand, whilst the other (mirror) hand just had to prevent the manipulandum from dropping. In a second task, force changes had to be produced either in a symmetric or in an antiparallel manner. No significant group differences between patients and controls in the extent of coupling were found. During unimanual squeezing, only six patients had a co-activation in the pathologic range. Whilst performing bimanual asymmetric grip force changes, pathologic coupling was seen only in five patients. No association was found between the presence of pathologic MM and clinical or neuroanatomical features. Brain lesions in adults seem only rarely to be associated with pathologic MM. They might be non-specific and not related to the characteristics of the lesion.

Adolescent↗

PubMed2003

[Cognitive impairment in adults with neurofibromatosis type 1].

Cognitive impairment is a common phenomenon in children with neurofibromatosis type 1 (NF1), but only little is known about its nature and frequency in adult NF1-patients. Using a comprehensive psychometric test battery, we investigated 20 patients with NF1 and 20 age and gender matched control subjects without neurological diseases. Results showed slightly lowered test scores in patients compared with controls but no specific intellectual impairment. On a computerized test of selective attention, the NF1-group had significant slower reaction times. Also, three out of four memory tests and a test of visuoconstructive abilities showed poorer test results in the NF1-patients. Executive functions however were not affected. The findings agreed well with the test profile in NF1-children and supported the idea of a continuum between childhood and adulthood. Observations are discussed in the context of studies investigating the association of cognitive deficits with either intracranial lesions or alterations in the neurofibromin expression.

Adult↗

PubMed2003

Hypersomnia associated with bilateral posterior hypothalamic lesion. A polysomnographic case study.

We examined an obese 58-year-old patient with a bilateral posterior hypothalamic lesion of unknown etiology. A 24-hour polysomnography revealed a markedly increased total sleep time (17.6 h). During daytime, only 3 continuous wake phases occurred. REM periods occurred only between 5 p.m. and 6 a.m. We conclude from our results that, similar to the results from animal experiments, the posterior hypothalamus in humans plays a critical role in the maintenance of wakefulness.

Antigen-Antibody Reactions↗

PubMed2001

[Type I neurofibromatosis. A model for the study of molecular principles of cognition].

Cognitive impairment in neurofibromatosis type I (NF1) has only recently attracted interest. In addition to previous studies in children, our own investigation of 20 patients confirms the slightly lowered psychometric test scores also for adults with NF1. Molecular manipulation of the neurofibromin gene leads to learning disorders in the mouse model ("cognitive neurogenetics"). It is not just faulty brain development that underlies these findings: neurofibromin plays a role in signal transduction cascades that are active during learning and memory throughout the life span. Thus, it appears possible to cure the cognitive defects at least in the mouse ("cognitive enhancement"). In man, an early diagnosis of NF1 is presently essential in order to provide specific remedial education for children affected by the learning disorder of neurofibromatosis type I.

Adult↗

PubMed1999

Quantitative MRI in CADASIL: correlation with disability and cognitive performance.

OBJECTIVE: To study correlations between total lesion load on brain MRI and clinical features, and to evaluate the influence of demographic variables on quantitative MRI variables in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). BACKGROUND: CADASIL is a hereditary form of small-vessel disease caused by mutations within the Notch3 gene. MRI abnormalities have been found both in asymptomatic and symptomatic CADASIL individuals. METHODS: Quantitative measurements on cerebral MRI were performed in 64 CADASIL individuals. MRI lesions were quantified using a semi-automated segmentation technique based on local thresholds. RESULTS: MRI total lesion volume correlated significantly with disability (Rankin Scale) on both T1- and proton density (PD)-weighted images. There was a significant inverse correlation between total lesion volume and overall cognitive performance as determined by the Mini-Mental State Examination. Age but not sex was correlated with lesion load both on T1- and PD-weighted images. There was no detectable influence of the Notch3 genotype on quantitative MRI variables. CONCLUSIONS: This study demonstrates correlations between MRI lesion volume and clinical characteristics in CADASIL. Longitudinal studies are now warranted to investigate whether quantitative MRI could be used as an adjunct outcome measure in future therapeutic trials in CADASIL.

Adult↗

PubMed1999

[Noninvasive protocol for surgical treatment of focal epilepsies].

We present a non-invasive epilepsy surgery protocol, which includes EEG-video-monitoring, magnetic resonance imaging (MRI), interictal positron emission tomography (PET) and ictal single photon emission computerized tomography (SPECT). According to this non-invasive protocol 50 of 173 patients with medically intractable focal epilepsy underwent resective surgery. The localization of the epileptogenic zone was based on the congruence of the localizing results of EEG-video-monitoring, MRI, interictal PET and ictal SPECT. 46 (92%) of the patients had temporal and 4 (8%) had extratemporal epilepsies. 78% (n = 39) of all patients operated according to our non-invasive protocol were postoperatively completely or almost seizure free. Extramesiotemporal resections could be carried out without invasive EEG-recording if the epileptogenic zone was not adjacent to the eloquent cortex. We conclude from our results that in a considerable number of patients with medically intractable particularly temporal focal epilepsies, resective epilepsy surgery can be based on non-invasive EEG-evaluations and the risk of invasive recordings can be avoided.

Adolescent↗

PubMed1999

Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a microangiopathic syndrome. Although the defective gene has been identified, genetic analysis may be effort some due to its large size and various mutations. Providing a reliable diagnostic marker would therefore be helpful. Electron microscopy has revealed characteristic electron-dense granular deposits in the basal lamina of vessels of patients with CADASIL. We investigated the sensitivity of skin and muscle biopsies for diagnosing CADASIL. We examined 30 family members of three unrelated German families affected by CADASIL. In 14 of the 21 affected individuals we performed skin and muscle biopsies; two patients were clinically asymptomatic. Under electron microscopy all muscle and skin biopsy specimens showed patches of granular and electron-dense material in the basal layer of both arterioles and capillaries. These findings confirm that general microangiopathy is a typical feature of this syndrome and is present in the early phase of the disease with or without clinical manifestation. Thus, as electron microscopy of skin biopsy specimens can establish the diagnosis of CADASIL with high certainty, it may be considered the method of first choice.

Adult↗

PubMed1999

Characteristic MR lesion pattern and correlation of T1 and T2 lesion volume with neurologic and neuropsychological findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

BACKGROUND AND PURPOSE: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an arteriopathy related to a genetic defect of the notch 3 gene on chromosome 19. The purpose of this study was to evaluate lesion distribution and volume using MR imaging and to correlate the lesion volume with the neurologic and neuropsychological findings. METHODS: Twenty members of two families (14 with CADASIL as determined by linkage analysis, six healthy) were studied with MR imaging. Two observers evaluated the MR findings semiquantitatively and quantitatively. MR results were then correlated with neurologic and neuropsychological findings. RESULTS: A typical pattern of lesion distribution in patients with CADASIL was found: the frontal lobe was the site with the highest lesion load, followed by the temporal lobe and the insula. The total lesion volume on T1-weighted MR images correlated significantly with the degree of disability and the degree of impairment in neuropsychological functions (including attention, memory, and conceptual and visuospatial functions). CONCLUSION: In CADASIL patients, a common pattern of cerebral lesion distribution is found. The total T1 lesion volume is an important parameter to correlate with disability, as it may prove to be helpful in predicting the natural history of the disease.

Adult↗

PubMed1998

The phenotypic spectrum of CADASIL: clinical findings in 102 cases.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an increasingly recognized autosomal dominant disorder that leads to cerebrovascular manifestations in early adulthood. This study delineates the phenotypic spectrum and the natural history of the disease in 102 affected individuals from 29 families with biopsy-proven CADASIL. Recurrent ischemic episodes (transient ischemic attack [TIA] or stroke) were the most frequent presentation found in 71% of the cases (mean age at onset, 46.1 years; range, 30-66 years; SD, 9.0 years). Forty-eight percent of the cases had developed cognitive deficits. Dementia (28%) was frequently accompanied by gait disturbance (90%), urinary incontinence (86%), and pseudobulbar palsy (52%). Thirty-nine patients (38%) had a history of migraine (mean age at onset, 26.0 years; SD, 8.2 years), which was classified as migraine with aura in 87% of the cases. Psychiatric disturbances were present in 30% of the cases, with adjustment disorder (24%) being the most frequent diagnosis. Ten patients (10%) had a history of epileptic seizures. To delineate the functional consequences of ischemic deficits, we studied the extent of disability in different age groups. The full spectrum of disability was seen in all groups older than age 45. Fifty-five percent of the patients older than age 60 were unable to walk without assistance. However, 14% in this age group exhibited no disability at all. Kaplan-Meier analysis disclosed median survival times of 64 years (males) and 69 years (females). An investigation of the 18 multiplex families revealed marked intrafamilial variations.

Adult↗

PubMed1996

Lyme neuroborreliosis disguised as normal pressure hydrocephalus.

A 74-year-old woman presented with gait impairment, urinary incontinence, and dementia. She showed lymphocytic CSF pleocytosis and pronounced intrathecal Borrelia burgdorferi antibody production, indicating active Lyme neuroborreliosis. The syndrome of normal-pressure hydrocephalus (NPH) fully remitted after ceftriaxone treatment. Lyme neuroborreliosis may cause NPH by interfering with subarachnoid CSF flow.

Aged↗

PubMed1995

Postoperative neuropsychological dysfunction and cerebral oxygenation during cardiac surgery.

In 41 patients undergoing cardiac operations with extracorporeal circulation, oxidized cytochrome a,a3(CtO2), deoxygenated hemoglobin (Hb), and oxygenated hemoglobin (HbO2) were measured in brain tissue by near-infrared spectrophotometry (NIRS) intraoperatively. Monitoring also included electroencephalography (EEG) and jugular-bulb venous saturation (SBJO2). All operations were performed using membrane oxygenators, moderate hypothermia (26-28 degrees C) and pH alpha-stat management. During cardiopulmonary bypass (CPB) CtO2 and HbO2) were reduced, reaching minimal values when rewarming was instituted. At the end of the operation CtO2 and HbO2 had regained initial levels. During CPB, arterial PCO2, pH, and temperature were closely related to CtO2 (r = 1000, r = -0.964 and 0.929 respectively; p < 0.001, p < 0.001, and p < 0.003 respectively). Neuropsychological testing by the Mini-Mental-State Test indicated reversible postoperative neuropsychological deficits in four patients. There patients had a lower CtO2 minimum compared to those without these deficits (-4.5 mumol/L v. -0.7 mumol/L; p = 0.036). These findings support the hypothesis that neuropsychological deficits in patients after cardiac surgery can be caused by intraoperative cerebral hypoxia.

Adult↗

PubMed1995

[Hereditary CADASIL cerebral arteriopathy. Report of a family].

We describe two members of a German family with cerebral autosomal dominant arteriopathy (CADASIL), which is characterized by recurrent subcortical ischemic strokes, mild dementia and leukoencephalopathy. The clinical features of the disease are suggestive of Binswanger's subcortical arteriosclerotic encephalopathy. However, it differs by the lack of hypertension and familial aggregation with autosomal dominant inheritance. Magnetic resonance imaging (MRI) of the brain shows subcortical ischemic infarcts affecting the periventricular white matter, the basal ganglia and the brain stem. On T2-weighted imaging, areas of hyperintensity were found in the white matter of both cerebral hemispheres with preponderance of frontal and anterotemporal regions. We assume that the underlying disease in this family is CADASIL with subcortical infarcts and leukoencephalopathy. The recently assigned disease locus on chromosome 19 was confirmed in this family. A treatment trial with acetylsalicylate was started in the affected members of the family.

Adult↗

PubMed1994

Cerebral involvement in McLeod syndrome.

McLeod syndrome is an Xp21-linked Kell blood group variant due to lack of erythrocyte protein Kx with associated RBC membrane dysfunction such as acanthocytosis. A man with this syndrome developed chorea and slight neuropsychological impairment. He had caudate atrophy on cerebral imaging and reduced striatal dopamine D2-receptor binding on single-photon emission computed tomography. Since Xp21 was partly deleted in the patient, the missing gene product (possibly Kx) may be essential for the integrity of the striatum.

Benzamides↗