Dietmar Rosenthal

Long-term outcome of neurological Wilson's disease

INTRODUCTION Aim of the study was to characterize the clinical spectrum of long-term treated patients with Wilsons disease (WD) and to identify risk factors influencing long-term outcome. METHODS In a cross-sectional study 30 WD-patients being treated for at least 2.5 and up to 31 years underwent a detailed clinical investigation, scoring of clinical findings yielding 7 motor and 3 non-motor subscores as well as laboratory testing. A factor analysis of these subscores and laboratory parameters was performed to detect those items with the highest influence on outcome, an ANOVA and subgroup analysis tested the influence of age, age at onset of diagnosis and duration of treatment on outcome. A correlation analysis was performed between clinical subscores and laboratory findings. RESULTS Three factors (F1-F3) characterized the clinical outcome (F1: tremor and pathological reflexes; F2: dystonia and dysarthria; F3: cerebellar abnormalities and gait), and three factors the laboratory findings (LF1: serum level of ceruloplasmin; LF2: liver enzymes; LF3: INR). Mildly affected patients had an elevated 24 h urinary copper excretion, more affected patients presented with elevated liver enzymes. Six of the 7 motor subscores did not change with duration of treatment, whereas tremor (p < .04), the total score (p < .02) and especially the non-motor items (p < .001) significantly increased with duration of treatment. The outcome of patients with neuropsychiatric abnormalities was significantly worse (p < .01) compared to the rest of the patients. CONCLUSIONS Long-term outcome in WD is influenced by patients compliance and neurological comorbidity.

Improvement of upper trunk posture during walking in hemiplegic patients after injections of botulinum toxin into the arm

Background: It has been hypothesized that altered trunk movements during gait in post‐stroke patients or children with cerebral palsy are compensatory to lower limb impairment. Improvement of trunk movements and posture after injections of botulinum toxin into the affected arm would be at variance with this hypothesis and hint towards a multifactorial trunk control deficit. Patients and Methods: Clinical gait analysis was performed in 11 consecutively recruited hemiplegic patients immediately before and 4 weeks after a botulinum toxin type A‐injection into the affected arm. Kinematic data were collected using an 8 camera optical motion‐capturing system and reflective skin‐markers were attached according to a standard plug‐in‐gait model. Deviation of the trunk in lateral and forward direction and the trajectory of the C7‐marker in a sacrum‐fixed horizontal plane were analyzed in addition to classical gait parameters. The Wilson‐signed‐rank test was used for pre/post‐botulinum toxin comparisons. Findings: After botulinum toxin injections a significant improvement of forearm flexion scores from 2.57 to 2.0 (p < 0.014), and a reduced lateral deviation of the upper trunk from 3.5 degrees to 2.5 degrees (p < 0.014) were observed. Free‐walkers tended to walk faster (p < 0.046, 1‐sided), with reduced pre‐swing duration of both legs and an increased step length of the non‐affected leg. The C7‐marker trajectory was shifted towards the midline. Interpretation: Injections of botulinum toxin into the affected arm of hemiplegic patients improve abnormal trunk lateral flexion. This shift of the center of mass of the upper body towards the midline improves various gait parameters including gait speed. HighlightsTrunk lateral flexion of upper body during walking in adult patients with spasticity after strokeImprovement of forearm muscle tone and position after BoNT/A injections into the forearm flexorsImprovement of upper trunk lateral flexion during walking after BoNT/A injections into the armImprovement of gait speed in chronic spasticity after BoNT injections into the armTrunk control deficit due to trunk muscle impairment in adult patients with hemiplegia after stroke

High Botulinum Toxin‐Neutralizing Antibody Prevalence Under Long‐Term Cervical Dystonia Treatment

The aim of this study was to determine the prevalence of neutralizing antibodies in a large cohort of long‐term treated patients with cervical dystonia (CD) still responding to repetitive injections with botulinum toxin (BoNT).

Gait deviations in transverse plane after SCFE in dependence on the femoral offset

Residual deformity of the femoral head after slipped capital femoral epiphysis (SCFE) may be accompanied by a loss of femoral offset and lead to femoro-acetabular impingement (FAI), especially during hip flexion. It is hypothesized that during phases of the gait cycle, when the hip is flexed, the offset-loss is compensated by an increased external rotation. The gait pattern of 36 patients suffering from SCFE, who were treated by pinning-in-situ, were compared to a control group of 40 healthy adults by an instrumented 3D-gait analysis. Total patient group was subdivided into 3 subgroups in dependence on the offset (offset groups (OG)) quantified by the angle α according to Nötzli: OG1: α-angle <55°, OG2: α-angle between 55 and 75°, OG3: α-angle >75°. Comparisons were made at 3 instants: initial foot contact (0% gait cycle (GC)), 40-60% GC and 90-100% GC. Patients showed an increased external hip rotation during all 3 periods of the GC with a tendency of increasing external rotation in association with offset-loss. Only during hip extension (40-60% GC) there was a weak correlation between angle α and hip rotation (r=-0.375, p=0.024). In conclusion, the offset-loss does not lead to a functional relevant impingement during walking which needs compensation strategies like increasing external rotation during periods of hip flexion.

Post-operative quality of life in children with severe perthes disease: differences to matched controls and correlation with clinical function.

The diagnosis of Legg-Calvé-Perthes disease (LCPD) has a considerable influence on the daily life of the patients with restrictions in their leisure time activities. This might influence their mood. Until now this aspect of the disease has been neglected. Therefore the objective of the study was to evaluate the health related quality of life (HRQoL) of children with severe LCPD who had an extensive surgery with pelvic/femoral osteotomy. The KIDSCREEN-10 and the modified Modified Harris Hip Score (mHHS) -questionnaire were administered to 17 children (16 boys and 1 girl) aged 5 to 11 years at the time of surgery. Analyses of mHHS were made preoperatively and at the time of the follow-up examination at least 2 years postoperatively. KIDSCREEN-analyses were made postoperatively. The follow-up results were compared to an age-matched normal control group. Correlations were computed between KIDSCREEN-10 and mHHS pre- and post-operatively. The postoperative calculated KIDSCREEN-10-T-value [70.2 (SD 12.7)] was higher than the mean T-value of the control-group [56.6 (SD 10.4)]. The mHHS improved from 54.4 (SD 19.9) to a score of 99.5 (SD 1.5) postoperatively. A strong correlation was found between the preoperative mHHS and the postoperative KIDSCREEN-10-T-value (Spearman’s-rho 0.67, P=0.003). After containment improving surgery and a mean follow-up period of 4.2 years the HRQoL-status is even better compared with a healthy age-matched control group. As well an excellent clinical function could be achieved.