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Biomedical subjects

Erwin Ott

Publications and source records attributed to Erwin Ott.

8 recordsLinked to original sources
PubMed2006

No effect of immunomodulatory therapy in focal epilepsy with positive glutamate receptor type 3--antibodies.

Antibodies against the glutamate receptor type 3-(GluR3) have been found in association with Rasmussen's encephalitis (RE) but were also detected in patients with non-inflammatory focal epilepsies. We report the case of an 18-year-old patient with treatment refractory left mesial temporal lobe epilepsy accompanied by high levels of GluR3 antibodies. Different from experiences in patients with RE immunomodulatory therapy by use of intravenous gammaglobulines neither altered GluR3 serum levels nor had any effect on seizure frequency in our patient. Interestingly, GluR3 serum levels remained positive after successful surgical intervention leading to patient's seizure freedom.

Adolescent↗
PubMed2006

Efficacy and safety of radiosurgical callosotomy: a retrospective analysis.

PURPOSE: Anterior callosotomy is a surgical option for the treatment of generalized tonic or atonic seizures associated with drop attacks. Besides open surgery, a radiosurgical callosal disconnection using the gamma knife (GK) also can be performed, but reliable data about tolerability and efficacy are sparse. METHODS: Eight patients (three female, five male age range, 5 to 69 years) with severe generalized epilepsy associated with disabling drop attacks underwent GK callosotomy between 1993 and 2004. In six patients, the anterior third of the corpus callosum was radiosurgically disconnected. In one patient a second procedure with GK treatment of the middle third of the corpus callosum was added 17 months later. In two patients posterior GK callosotomy had followed partial hemispherotomy. RESULTS: Drop attacks (DAs) were completely abolished in three patients, and two patients had a marked DA seizure reduction of 60%. Two of four patients with additional generalized tonic-clonic seizures showed a reduction of 100%, and the remaining, a 50% and 60% decrease, respectively. Other seizure types responded less well to the radiosurgical treatment. In both patients with posterior GK callosotomy after hemispherotomy, partial seizures decreased. Beside transient headache in two patients, no immediate or long-term postradiosurgical side effects were observed. CONCLUSIONS: Palliative radiosurgical callosotomy is an efficient and safe noninvasive alternative to the open procedure with comparable results. No signs of postradiosurgical side effects were noted within an up to 12-year posttreatment period.

Adolescent↗
PubMed2004

Angiotensinogen promoter B-haplotype associated with cerebral small vessel disease enhances basal transcriptional activity.

BACKGROUND AND PURPOSE: Previously, we described the presence of 5 haplotypes (A to E) at the angiotensinogen (AGT) promoter and reported a significant association between the B-haplotype (nucleotide substitutions -6:G-->A and -20:A-->C compared with the wild-type A-haplotype) and magnetic resonance imaging correlates of cerebral small vessel disease (cSVD). The association was independent of hypertension, suggesting a brain-specific effect of this haplotype. In the current study, we investigated transcriptional activities of the 5 promoter haplotypes in astrocytes, the main source of cerebral AGT, and in hepatocytes, the main source of systemic AGT, as well as determined the evolutionary relatedness of the promoter haplotypes. METHODS: Transcriptional activity depending on the haplotypes and the -6:A and -20:C substitutions was measured in transiently transfected A172 and HepG2 cells. We genotyped 5 new single nucleotide polymorphisms (SNPs) at the AGT gene and measured linkage disequilibrium (LD) among SNPs and the promoter haplotypes. An evolution-based haplotype tree was constructed. RESULTS: The B-haplotype increased transcriptional activity in both cell types. Its effect was stronger in astrocytes than in hepatocytes (2.4+/-0.09-fold, P<0.001 versus 1.6+/-0.06-fold, P=0.014). Importantly, in astrocytes the combination of the -6:A and the -20:C was mandatory for increased activity, whereas in hepatocytes the -20:C on its own was sufficient. Strong LD between the 5 new SNPs and the promoter haplotypes allowed the reconstruction of 9 haplotypes over the AGT gene. Cladistic analyses suggest that the B-haplotype represents an ancient promoter variant. CONCLUSIONS: Combination of the -6:A and -20:C substitutions in the B-haplotype may promote the development of cSVD by enhancing cerebral angiotensinogen expression.

Angiotensinogen↗
PubMed2003

The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval.

Recently, a new locus (PARK8) for autosomal dominant parkinsonism has been identified in one large Japanese family. Linkage has been shown to a 16-cM centromeric region of chromosome 12, between markers D12S1631 and D12S339. We tested 21 white families with Parkinson disease and an inheritance pattern compatible with autosomal dominant transmission for linkage in this region. Criteria for inclusion were at least three affected individuals in more than one generation. A total of 29 markers were used to saturate the candidate region. One hundred sixty-seven family members were tested (84 affected and 83 unaffected). Under the assumption of heterogeneity and through use of an affecteds-only model, a maximum multipoint LOD score of 2.01 was achieved in the total sample, with an estimated proportion of families with linkage of 0.32. This LOD score is significant for linkage in a replication study and corresponds to a P value of.0047. Two families (family A [German Canadian] and family D [from western Nebraska]) reached significant linkage on their own, with a combined maximum multipoint LOD score of 3.33, calculated with an affecteds-only model (family A: LOD score 1.67, P=.0028; family D: LOD score 1.67, P=.0028). When a penetrance-dependent model was calculated, the combined multipoint LOD score achieved was 3.92 (family A: LOD score 1.68, P=.0027; family D: LOD score 2.24, P=.0007). On the basis of the multipoint analysis for the combined families A and D, the 1-LOD support interval suggests that the most likely disease location is between a CA repeat polymorphism on genomic clone AC025253 (44.5 Mb) and marker D12S1701 (47.7 Mb). Our data provide evidence that the PARK8 locus is responsible for the disease in a subset of families of white ancestry with autosomal dominant parkinsonism, suggesting that it could be a more common locus.

Chromosome Mapping↗
PubMed2002

Sleep attacks in patients taking dopamine agonists: review.

OBJECTIVES: To assess the evidence for the existence and prevalence of sleep attacks in patients taking dopamine agonists for Parkinson's disease, the type of drugs implicated, and strategies for prevention and treatment. DESIGN: Review of publications between July 1999 and May 2001 in which sleep attacks or narcoleptic-like attacks were discussed in patients with Parkinson's disease. RESULTS: 124 patients with sleep events were found in 20 publications. Overall, 6.6% of patients taking dopamine agonists who attended movement disorder centres had sleep events. Men were over-represented. Sleep events occurred at both high and low doses of the drugs, with different durations of treatment (0-20 years), and with or without preceding signs of tiredness. Sleep attacks are a class effect, having been found in patients taking the following dopamine agonists: levodopa (monotherapy in 8 patients), ergot agonists (apomorphine in 2 patients, bromocriptine in 13, cabergoline in 1, lisuride or piribedil in 23, pergolide in 5,) and non-ergot agonists (pramipexole in 32, ropinirole in 38). Reports suggest two distinct types of events: those of sudden onset without warning and those of slow onset with prodrome drowsiness. CONCLUSION: Insufficient data are available to provide effective guidelines for prevention and treatment of sleep events in patients taking dopamine agonists for Parkinson's disease. Prospective population based studies are needed to provide this information.

Adult↗