W. Oder

Neurological and neuropsychiatric spectrum of Wilson's disease: a prospective study of 45 cases

SummaryForty-five patients with Wilsons disease (WD) were prospectively studied: 27 had neurological deficits, 12 hepatic signs, and 6 were asymptomatic. Kayser-Fleischer rings occurred in 23 of the neurological patients and in only 4 of the hepatic patients. Neurological features were extremely variable with respect to frequency and severity. Most frequent were dysdiadochokinesis (25 patients), dysarthria (23), bradykinesia (17), and posture tremor (14). Fifteen, mainly long-term treated patients, presented with rather discrete neurological abnormalities which predominantly consisted of dysarthria and various forms of tremor. Eight patients had a parkinsonian type of neurological WD associated with signs of an organic mood syndrome. Three patients were predominantly hyperkinetic, presenting with dystonic and choreatic movements. In 1 patient, ataxia was the predominant neurological feature. There was a clear-cut correlation between the severity of neurological impairment and the restriction in functional capacity. Nine patients were not able to engage in salaried employment or were retired. Psychiatric symptoms and behavioural disorders were common, varying from mild personality and psychological disturbances to severe psychiatric illness resembling psychotic disorders and major depressive syndromes. Significant mental deterioration was not found in the patients. Disturbances of mood were observed in 12 patients, all of whom had neurological abnormalities. There was a history of an attempted suicide in 7 patients, and a history of an organic delusional syndrome in 3.

Wilson's disease Evidence of subgroups derived from clinical findings and brain lesions

Using exploratory factor analysis, we prospectively investigated neuropsychiatric symptoms and structural brain lesions of 47 patients with proven Wilsons disease and identified three subgroups. The first subgroup clinically exhibited bradykinesia, rigidity, cognitive impairment, and an organic mood syndrome and by MM showed a dilatation of the third ventricle. The second subgroup was characterized by ataxia, tremor, reduced functional capacity, and focal thalamic lesions. The third subgroup showed dyskinesia, dysarthria, an organic personality syndrome, and focal lesions in the putamen and in the pallidum.

Cranial MRI in Wilson's disease

SummaryThirty-eight patients with biochemically proven Wilsons disease underwent magnetic resonanceimaging (MRI) of the brain as well as neurological examinations. The patients were scanned using spin-echo (SE) sequences; the neurologist was looking for typical symptoms: dysarthria, tremor, ataxia, rigidity/bradykinesia and chorea/dystonia. Pathological MR findings believed secondary to this uncommon inherited disorder of copper metabolism were found in twenty-two subjects. Focal abnormalities were seen in the lenticular, thalamic and caudate nuclei as well as in brain stem and white matter; these lesions were best demonstrated on T2-weighted sequences as hyperintense areas. In eight patients we found diffuse brain atrophy with consecutive widening of the ventricular system. Five subjects showed mild, nineteen severe neurologic deficits. Generally there was no correlation between MR findings and clinical neurological symptoms; the impairment of cell-metabolism causing functional alterations of the brain precedes morphological changes. During treatment with the copper chelator D-penicillamine there seemed to be a phased course of disease. Shortening of T1-relaxation due to paramagnetic influence of copper was not seen; a possible explanation could be intracellular deposition — a proton-electron-dipolar-dipolar-interaction would therefor be impossible.

Spontaneous body sway as a function of sex, age, and vision: posturographic study in 30 healthy adults.

Detailed neurological examinations and body sway measurements with a stable force measuring platform were carried out on 30 healthy adults between 21 and 63 years of age. The results were analyzed for sex- and age-associated changes with regard to three different sway components (total sway, anterio-posterior sway, lateral sway) and two different conditions (eyes open, eyes closed). Sex-associated differences were highly significant for all sway components in the oldest age group (51-65 years) in which men exhibited more spontaneous postural sway than women in the condition eyes open. With eyes closed these differences increased. Middle-aged men (36-50 years) also exhibited significantly more postural sway than women of the same age. In the condition eyes open especially total sway and anterioposterior sway were increased, whereas in the condition eyes closed total sway and lateral sway were predominantly higher in men than in women. In the youngest age group (21-35 years) no sex-related differences in postural sway were found. Age-associated differences were significant for anterioposterior sway (eyes open) in men, increasing continuously from the young to the middle-aged, and again from the middle-aged to the older age group. Anterioposterior sway in women, on the contrary, did not change with age. Age-associated differences in women were found for total sway (eyes open) and lateral sway (eyes closed). However, the highest values for total sway and lateral sway within the female group were obtained from young women in both conditions eyes open and eyes closed.(ABSTRACT TRUNCATED AT 250 WORDS)

Comparison of functional and structural brain disturbances in Wilson's disease

We assessed the functional and structural brain disturbances in Wilsons disease (WD) by evoked potentials (EPs) and magnetic resonance imaging (MRI). All the 25 neurologically symptomatic and 44% of the 16 asymptomatic patients, assessed by both EPs (n = 48) and imaging (n = 41), had at least 1 abnormality of either prolonged EP conduction times, imaging-outlined presence of cerebral lesions, or brain atrophy. Our findings indicate that EPs and MRI are sensitive techniques for the evaluation of brain involvement in WD.

Evoked potentials in assessment and follow-up of patients with Wilson's disease

Treatment of 9 patients with Wilsons disease was prospectively studied with evoked potentials and magnetic resonance imaging (MRI). Oral penicillamine therapy led to a decrease in auditory brainstem (ABP) and somatosensory (SEP) conduction times in 6 and 4 neurologically symptomatic patients, respectively. ABP and SEP were normal in 3 other symptom-free patients. MRI showed cerebral lesions in 4 of 7 patients. Quantified indices of brain atrophy were unaffected by treatment. ABP and SEP may reveal a reversible component of the disease that cannot be detected by MRI, and may be a more sensitive measure of treatment efficacy.

HM-PAO-SPECT in persistent vegetative state after head injury : prognostic indicator of the likelihood of recovery?

Management of patients presenting with traumatic persistent vegetative state (PVS) calls for extensive resources. The ability to predict whether or not a patient is likely to recover is a critical issue. In 12 patients with PVS admitted consecutively for early rehabilitation after head injury, pattern of brain activity was measured by99mTc-hexamethyl-propylenamineoxime (99mTc-HM-PAO) brain SPECT (single photon emission computer tomography). All patients were re-investigated after a mean observation period of 3 years. A global reduction of cortical blood flow was a reliable predictor of poor longterm outcome, but the demonstration of only focal deficits did not reliably indicate a favourable outcome. Brain SPECT may help to improve outcome prediction in patients with traumatic PVS.

Detailed evaluation of evoked potentials in Wilson's disease ☆

Detailed evoked potentials (EPs) were studied in 52 patients (28.7 +/- 11.9 years) with Wilsons disease (WD). Various peak latencies, interpeak latencies and amplitudes of somatosensory, auditory brain-stem and visual EPs were significantly abnormal in the group of 28 neurologically symptomatic patients as compared to controls. Interhemisphere latency and amplitude differences tended to be increased without reaching significance, indicating a symmetrical rather than focal subclinical brain involvement. Selected conduction times of at least 1 EP modality were prolonged in all 4 patients with severe, in 16 of 18 with moderate, in 4 of 6 with mild, and in 4 of 24 patients without neurological symptoms. Auditory brain-stem and somatosensory EPs were more frequently prolonged than visual EPs (more abnormalities with check sizes of 13 than 54 min of arc). Cortical somatosensory EPs correlated well (P much less than 0.01) with either Fz or earlobe reference.

Evoked potentials in severe herpes simplex encephalitis.

Diagnostic and prognostic value of evoked potentials (EP) were studied in 5 patients with severe herpes simplex encephalitis (HSE). Latency of the third negative cortical N70 peak, elicited by median nerve stimulation, was prolonged in 3 survivors with Glasgow coma score of ≤6 (115 vs 71 ms in controls,p<0.05), but normal after improvement of the acute disease, N70 right to left interhemisphere difference was increased initially in the 4 survivors (26 vs 3 ms in controls,p<0.05) indicating focal brain involvement, a crucial finding in HSE. The first cortical N 20 peak was preserved in all survivors even during deep coma where evaluation of brain function is difficult. Auditory brainstem EP were normal in all patients and useful to exclude brainstem death. In severe HSE, somatosensory long-latency EP are an effective monitor of the level of impaired consciousness and can detect brain focal signs. Short-latency N20 components may be predictive of the outcome.

Verlauf und Therapie der viralen Meningoenzephalitis

Die akute, virale Meningoenzephalitis reprasentiert eine wichtige, wenn auch seltene Erkrankung des zentralen Nervensystems. Relevante Erreger sind Herpes-, Picorna-, Toga-, Paramyxo-, Retro- und Rhabdoviren. Epidemiologische Untersuchungen aus den USA berichten uber 20 000 Neuerkrankungen pro Jahr, ca. 1 000–2 000 (5–10%) davon werden durch Herpes simplex verursacht. Die Herpes simplex Enzephalitis (HSE) ist die haufigste Form der spontanen akuten Enzephalitis der westlichen Welt [1], sie befallt als hamorrhagischnekrotisierender Prozes bevorzugt die Temporallappen und hat unbehandelt eine Mortalitat von 70% (nur 10% werden voll rehabilitiert) [2]. Die fruhzeitige Therapie mit Acyclovir vermag Mortalitat (auf 20%) und Prognose (nach 6 Monaten 50% rehabilitiert) entscheidend zu verbessern [3]. Betreffend die Morbiditat der akuten viralen Meningoenzephalitis besteht keine gesicherte Pradilektion zu immunsupprimierten Patienten.