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A study highlights that autosomal-dominant striatal degeneration (ADSD), a movement disorder affecting the striatal part of the basal ganglia, is caused by a complex frameshift mutation in the phosphodiesterase 8B (PDE8B) gene expressed in the brain. It shows that the mutation results in the loss of phosphodieterase enzyme activity, also suggesting that a functional analysis of PDE8B would help in a better understanding of ADSD and other such disorders.

Byline: Rainer Dziewas (1), Carsten Konrad (1), Bianca Drager (1), Stefan Evers (1), Michael Besselmann (1), Peter Ludemann (1), Gregor Kuhlenbaumer (1,2), Florian Stogbauer (1), E. Bernd Ringelstein (1,2) Keywords: vertebral artery dissection; carotid artery dissection; chiropractic manipulation Abstract: Abstract. The highly variable clinical course of cervical artery dissections still poses a major challenge to the treating physician. This study was conducted (1) to describe the differences in clinical and angiographic presentation of patients with carotid and vertebral artery dissections (CAD, VAD), (2) to define the circumstances that are related to bilateral arterial dissections, and (3) to determine factors that predict a poor outcome. Retrospectively and by standardised interview, we studied 126 patients with cervical artery dissections. Preceding traumata, vascular risk factors, presenting local and ischemic symptoms, and patientoutcome were evaluated. Patients with CAD presented more often with a partial Horner's syndrome and had a higher prevalence of fibromuscular dysplasia than patients with VAD. Patients with VAD complained more often of neck pain, more frequently reported a preceding chiropractic manipulation and had a higher incidence of bilateral dissections than patients with CAD. Bilateral VAD was significantly related to a preceding chiropractic manipulation. Multivariate analysis showed that the variables stroke and arterial occlusion were the only independent factors associated with a poor outcome. This study emphasises the potential dangers of chiropractic manipulation of the cervical spine. Probably owing to the systematic use of forceful neck-rotation to both sides, this treatment was significantly associated with bilateral VAD. Patients with dissection-related cervical artery occlusion had a significantly increased risk of suffering a disabling stroke. Author Affiliation: (1) Dept. of Neurology, University Hospital of Munster, Albert-Schweitzer-Strasse 33, 48129, Munster, Germany (2) Institute of Arteriosclerosis Research, University Hospital of Munster, Munster, Germany Article History: Received Date: 28/01/2003 Accepted Date: 13/05/2003

Byline: Peter Matheja (1), Peter Ludemann (2), Torsten Kuwert (1), Matthias Weckesser (1), Christoph Kellinghaus (2), Lars Weitemeyer (2), Beate Diehl (2), Gerhard Schuierer (3), E. Bernd Ringelstein (2), Otmar Schober (1) Keywords: Key words Benzodiazepine receptor binding; GABAA receptor complex; De-novo epilepsy; Temporal lobe epilepsy; SPECT Abstract: Purpose Epileptogenic foci exhibit disturbed function at the level of the benzodiazepine receptor. The aim of our study was to investigate the incidence of focal reductions of temporal benzodiazepine receptor binding (BRB) as assessed by scintigraphy with 123.sup.I-iomazenil in patients with de-novo temporal lobe epilepsy (TLE). Methods Forty adult patients (age: 34 +- 12 years) with cryptogenic de-novo TLE underwent scintigraphy with 123.sup.I-iomazenil. In all patients, symptomatic epilepsy was excluded by clinical investigation and MRI. The median duration of TLE was seven months, and the patients had a median of three documented seizures in their history of disease. BRB was quantified in four temporal regions covering the whole temporal lobe. Temporal asymmetry values (ASY) were compared with data determined in 13 age-matched controls yielding Z-scores for global and regional temporal BRB. Results A significant reduction of temporal BRB was found in 19 of the 40 patients (48 %), mainly in mesial temporal regions temporal BRB asymmetries were also found in patients with a short history of seizures and low seizure frequency (a$?1 year n = 32, 13/32 (41 %)). Only in the entire cohort did the magnitude of temporal reduction of BRB correlate with the duration of TLE as well as with the number of previous partial seizures (r = 0.40 and r = 0.36 p &lt 0.03, respectively). Conclusions Foci of decreased BRB can already be detected at the onset of TLE their magnitude is related to ongoing epileptic activity. Author Affiliation: (1) Klinik und Poliklinik fur Nuklearmedizin, WWU Muenster, Albert-Schweitzer-Str. 33, 48129 Muenster, Germany Tel.: ++49-251-8347362 Fax: ++49-251-8347383 e-mail: matheja@uni-muenster.de, DE (2) Dept. of Neurology (3) Dept. of Clinical Radiology Article note: Received: 20 October 2000 / Received in revised form: 29 December 2000 / Accepted: 27 January 2001

Byline: D. G. Nabavi (1), Ralf Junker (2), Endrik Wolff (1), Peter Ludemann (1), Christopher Doherty (3), Stefan Evers (1), Dirk W. Droste (1), Christof Kessler (3), Gerd Assmann (2), E. Bernd Ringelstein (1) Keywords: Key words Juvenile stroke; Thrombophilia; Coagulation; Factor V Leiden mutation Abstract: Cerebral ischaemia in young adults is a well-recognised disease, and approximately half of the cases remain aetiologically unclear despite extensive investigations. Thrombophilias are known to cause a subset of ischaemic strokes in this population. The factor V Leiden (FVL) mutation, causing resistance to activated protein C, has recently been recognised as the most important genetic thrombophilia in the Western population. Carriers of this gene mutation have a sevenfold increased risk of phlebothrombosis. We undertook this study to evaluate whether the FVL mutation constitutes a risk factor for juvenile cerebral ischaemias. A total of 225 patients aged a$? 45 years at onset of cerebral ischaemia and 200 age-matched healthy controls were investigated. The overall frequency of heterozygosity for the FVL mutation did not differ significantly between patients (8.4%) and controls [6.0% odds ratio (OR) 1.4, 95% confidence interval (CI) 0.7--3.1]. In the subgroup of patients with cryptogenic cerebral ischaemia (n = 94), however, a significantly higher frequency of this gene defect (15.9%) was found compared with the controls (OR 3.0, CI 1.3--6.6). Further trends towards higher frequencies of the FVL mutation were found in patients with patent foramen ovale (OR 1.9), individual (OR 2.1) or family history of previous thrombembolisms (OR 2.0), and in those aged 25 years at onset of disease (OR 1.9, all not significant). In conclusion, the FVL mutation is not a risk factor for cerebral ischaemia of the young. However, our results suggest that this gene mutation plays an aetiological role in the subgroup of patients suffering from 'cryptogenic' ischaemic events. Author Affiliation: (1) Department of Neurology, University of Munster, Albert-Schweitzer-Strasse 33, D-48129 Munster, Germany e-mail: nabavi@uni-muenster.de Tel.: +49-251-8348171 Fax: +49-251-8348181, DE (2) Institute of Clinical Chemistry and Laboratory Medicine, University of Munster, Munster, Germany, DE (3) Department of Neurology, University of Greifswald, Greifswald, Germany, DE (4) Institute of Atherosclerosis Research, Munster, Germany, DE Article note: Received: 13 January 1998 Received in revised form: 9 March 1998 Accepted: 23 March 1998

Byline: S. Evers (1), Dirk W. Droste (1), Peter Ludemann (1), Christoph Oberwittler (1) Author Affiliation: (1) Department of Neurology, University of Munster, Albert-Schweitzer-Strasse 33, D-48129 Munster, Germany Tel.: +49/251/8348175 Fax: +49/251/8348181 e-mail: everss@uni_muenster.de, DE Article note: Received: 29 April 1997 Received in revised form: 23 July 1997 Accepted: 12 September 1997