Search

OBJECTIVE—To describe the clinical, neurophysiological, and MRI findings in 10 patients with primary lateral sclerosis (PLS). RESULTS—The course of the disease was very slowly progressive. Spasticity due to upper motor neuron dysfunction was the most prominent sign, but EMG showed slight lower motor neuron signs, such as a mixed pattern on maximal voluntary contraction and enlarged motor unit potentials. One patient had clinically mild lower motor neuron involvement. Central motor conduction times (CMCT) were more prolonged in PLS than is the case in ALS. Minor sensory signs were found on neurophysiological examination, comparable with those in ALS. In four patients serum creatine kinase activity was raised. On MRI cortical atrophy was seen, most pronounced in the precentral gyrus and expanding into the parietal-occipital region. CONCLUSIONS—PLS is a distinct clinical syndrome, part of the range of motor neuron diseases. Besides pronounced upper motor neuron symptoms, mild lower motor neuron symptoms can also be found, as well as (subclinical) sensory symptoms. PLS can be distinguished from ALS by its slow clinical course, a severely prolonged MEP, and a more extensive focal cortical atrophy.

Neurophysiological functioning was studied prospectively in children treated for acute lymphoblastic leukaemia with a low dose vincristine regime (8×1.5 mg/m 2 /dose), to obtain more insight into vincristine neuropathy. A WHO neurotoxicity score was estimated and vibration sense and electrophysiological measurements were taken at standardized times during vincristine treatment. The WHO neurotoxicity score showed decreased or disappearance of Achilles tendon reflexes, and mild sensory disturbances, but a grade 3–4 neurotoxicity was not demonstrated by any of the children. Vibration perception thresholds increased progressively during treatment and amplitudes of action potentials of peroneal and sensory ulnar and median nerves decreased, whereas nerve conduction velocities stayed unchanged. Both vibration perception thresholds and the electrophysiological findings hardly exceeded the limits of normality. We conclude that children treated for acute lymphoblastic leukaemia with a low dose vincristine regimen have mild axonal neuropathy which may be responsible for the motor problems in these children.

Background: Botulinum toxin type A (BTA) is replacing trihexyphenidyl as the treatment of choice for idiopathic cervical dystonia (ICD), but there has never been a direct comparative study. Methods: This trial compares the effectiveness of BTA with that of trihexyphenidyl in a prospective, randomized, double-blind design. Sixty-six consecutive patients with ICD were randomized to treatment with trihexyphenidyl tablets plus placebo injection or placebo tablets plus BTA injections. Table tswere administered daily according to a fixed schedule. Dysport or saline was injected under EMG guidance at study entry and again after 8 weeks. Patients were assessed for efficacy at baseline and after 12 weeks by different clinical rating scales. Results: Sixty-four patients completed the study, 32 in each group. Mean dose of BTA was 292 mouse units (first session) and 262 mouse units (second session). Mean dose of trihexyphenidyl was 16.25 mg. The changes on the Disability section of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS-Disability) (primary outcome), Tsui Scale, and the General Health Perception Subscale were significantly in favor of BTA. More patients treated with BTA had an improvement of at least three points on the TWSTRS-Disability (14 versus 6) and on the Tsui Scale (23 versus 12). Adverse effects were significantly less frequent in the BTA group. Conclusion: BTA is significantly more effective in the treatment of ICD, with less adverse effects. NEUROLOGY 1996;46: 1066-1072

A sixth family with autosomal dominantly inherited myokymia and paroxysmal ataxia is described. The syndrome in this family is linked to the recently discovered locus for inherited myokymia and paroxysmal ataxia on the human chromosome 12p, and a missense mutation is shown in the KCNA1 gene. The attacks of ataxia in this family compare well with those of previously described families and similarly are precipitated by kinesigenic stimuli, exertion, and startle. Responsiveness of these attacks to low dose acetazolamide is confirmed, but some loss of efficacy occurs with prolonged treatment, and side effects are notable. Although not all affected family members showed myokymia on clinical examination, electromyography invariably showed myokymic discharges, in one patient only after a short provocation with regional ischaemia. One affected family member also had attacks of paroxysmal kinesigenic choreoathetosis, responsive to carbamazepine.

The effects of voluntary adaptations of the walking pattern were studied in 10 healthy subjects. These subjects had to adapt their walking pattern to external cues that resulted in either temporal or spatial constraints on walking. The results show that whereas the normal walking pattern in each subject was characterized by a stable linear relationship between step frequency and step length, the adaptation of walking to external cues resulted in two different modes of walking: frequency modulation with a constant amplitude of leg movements in rhythmic walking, and amplitude modulation with a constant frequency of leg movements in walking with visually guided step length. The relative timing of support, swing, and double-support phases was remarkably different between the two conditions; only with changes in step length a change in the relative timing of these phases could be observed. The different modes of walking could not be explained by the nature of the constraints imposed by the instruction to adapt the walking pattern to the external cues. It can be concluded that the way step frequency and step length are controlled involuntarily varies with the employed voluntary strategies. The different modes of walking suggest the existence of specific supraspinal influences on lower level pattern generating mechanisms. The involuntary adaptation of the relative timing within the stride cycle may result from the interaction between (low level) central processes and the dynamics of the movement.

Muscle fiber conduction velocity (MFCV) in biceps brachii was studied in traumatic brachial plexus lesions (16 patients) and amyotrophic lateral sclerosis (ALS) (22 patients) by means of an invasive (S-MFCV) and a surface (S-MFCV) method. After complete denervation an exponential decrease of the mean I-MFCV was found, T-1/2 =1.1 month. After 4-5 months this resulted in severely reduced conduction velocities (mean 1.4 m/sec, range from 0.5 to 2 m/sec). Simultaneous with signs of reinnervation, fibers with faster conduction velocities were seen. In ALS, a decrease of the mean I-MFCV was found, and slow conducting fibers were found in every patient on at least one side. At the same time muscle fibers with increased I-MFCVs were found. This increased range of velocities seems based on a combination of slow conducting, atrophic fibers, with fast conducting, hypertrophic fibers, compensating the force loss. In some subjects we found these disturbances without clear abnormalities with concentric needle EMG, and with unimpaired muscle force. The surface EMG measurements in the ALS patients revealed increased S-MFCV values in combination with a decrease of the median frequency (F-med). We suggest that the opposite finding of an increased S-MFCV is a consequence of the muscle fiber hypertrophy in the surviving, voluntarily recruited, motor units. The simultaneous decrease of the F-med seems to be caused mainly by the change in shape of the motor unit potential.

Local muscle fatigue (1 min maximal voluntary contraction) and recovery were studied by means of surface and invasive EMG on elbow flexors to record the changes in muscle fiber conduction velocity (MFCV), median power frequency (MPF), integrated EMG (IEMG), and force. The main finding was a long-lasting ''supernormal'' MFCV during recovery, for at least 1 hour. After a normalization phase, the MFCV and MPF continued to increase reaching a steady state at supernormal values after 10-12 min. Mean MFCV increase at 20% MVC after 15-min recovery was 0.58 m . s-1 (12%). Postfatigue IEMG values were increased at all contraction levels. In combination with near normal force levels, this resulted in a decrease in ''neuromuscular efficiency'' (force/IEMG). We suggest that this IEMG increase is mainly a result of the MFCV increase. The MFCV changes in fastest and slowest fibers found with the invasive method indicate a relatively equal effect on type I and II fiber types. A possible explanation of the supernormal MFCV is muscle fiber swelling, in combination with altered membrane properties.

P300 latency variability in normal subjects is a complicating factor in clinical event-related potential studies because it limits diagnostic applicability. The current study was conducted to determine whether identification of P300 (P3A and P3B) components using source analysis techniques can reduce variability in P300 parameters. Data were recorded with a 128-channel EEG system in 18 healthy subjects. The authors used a standard, auditory two-tone oddball paradigm with targets of 2,000 Hz and standards of 1,000 Hz. Two simple source analysis models with one or two rotating dipoles were applied to grand average data and individual data. Dipole time courses were combined with mapping results to extract P3A and P3B component latencies. Latencies obtained with conventional P300 analysis were compared with source analysis results. The source analysis method identified both P3A and P313 components in a substantially larger percentage of subjects (88% vs. 33%) than the conventional method. The source analysis method yielded a later mean P313 latency (357 msec vs. 323 msec, P

OBJECTIVE Microvascular decompression is the logical and well-accepted treatment of choice for hemifacial spasm (HFS). In experienced hands, good to excellent results can be obtained. However, sometimes the exact site of the vascular compression is unclear. The aim of this study was to analyze whether intraoperative monitoring by stimulated electromyography of the facial nerve may help to improve the results of vascular decompression for HFS. METHODS In a series of 74 patients operated for HFS, the impact of intraoperative facial nerve monitoring on the surgical procedure was analyzed by use of the clinical and operative patient records. The role of this type of monitoring, with assessment of the so-called abnormal muscle response, was broken down into four categories: a guiding, a confirming, an indirect confirming, or an inconclusive role. The relationship between abnormal muscle response monitoring results and final surgical outcome was analyzed. RESULTS The overall cure rate was 87.8%, including patients who had previously undergone unsuccessful operations. Complications were minor, and hearing impairment was found in 2.7% of patients. A guiding role of intraoperative monitoring was apparent in 33.8% of patients, and a confirming role was demonstrated in 52.7% of patients, which resulted in a positive contribution of approximately 87% for intraoperative facial monitoring in microvascular decompression for HFS. In patients defined as guiding cases, the cure rate was 92%. CONCLUSION This study demonstrates the applicability and usefulness of intraoperative facial nerve monitoring in microvascular decompression operations for HFS.

Aims: To investigate the feasibility of hyperthermic isolated regional perfusion (HIRP) with carboplatin in the management of locally recurrent and/or intransit metastases of melanoma or locally advanced soft tissue sarcoma. Methods: Three patients, two with locally advanced melanoma and one with a low-grade liposarcoma of the lower extremity, were treated with HIRP under mild hyperthermia (39-40 degreesC) with 125mg carboplatin/l perfused limb volume. Results: No systemic toxicity was observed. Local toxicity consisted of post-perfusion oedema present in all three patients which resolved within 2 weeks. Clinically, a persistent local neuropathy was observed in all three patients, two of which were confirmed by electromyogram and nerve conduction study. Severe motor-sensory neuropathy was located mainly in the peroneal and sural nerves of the perfused limbs. Pharmacokinetic parameters of the carboplatin showed a higher concentration of carboplatin in the skin compared to the muscle. The two melanoma patients showed a complete response but developed local recurrences within 1.5 years after perfusion. The third patient underwent a delayed excision of the sarcoma 8 weeks after perfusion which revealed 50% viable tumour. One of the melanoma patients and the sarcoma patient died from lung metastases 56 and 31 months pest-perfusion treatment, respectively. The other melanoma patient is alive 95 + months post-perfusion treatment. Conclusions: The local neurotoxicity observed did not warrant further research of carboplatin in HIRP. (C) 2000 Harcourt Publishers Ltd.

Voluntary and involuntary adaptation of gait in Parkinson's disease (PD) were studied in two separate experiments. In the first experiment, effects of changes in voluntary control were studied by asking PD patients and age-matched healthy subjects to adapt their walking pattern to visual cues resulting in spatial constraints, and auditory cues resulting in temporal constraints on stepping movements. In the second experiment, the adaptation to increases in speed during overground and treadmill walking was studied. Most patients were able to adapt their walking patterns in accordance with instructions. Notwithstanding consistent differences in step length, the adaptation to different conditions under study was highly similar in PD patients and healthy subjects. Only during walking with visually guided step length were the observed adaptations in PD patients less consistent. Contrary to these dissimilarities, the involuntary adaptation of timing of support and swing phases within the stride cycle was very similar between groups. In all conditions, only with changes in step length could a change in relative timing be observed. Our findings show that voluntary adaptation of gait is possible in PD and that basic involuntary coordination mechanisms are preserved. The observed disturbances in stride length regulation probably reflect an inability to perform fast movements in PD. Copyright 1998 Elsevier Science B.V.

We evaluated the medical and psychosocial experiences of 59 patients with idiopathic spasmodic torticollis (ST) by means of a structured questionnaire. The results generally corresponded with those of other studies in the literature. Diagnosis is delayed in many patients, and ST negatively influences the patients' social lives. Because drug treatment and physiotherapy are only of sufficient value in a minority, most patients seek benefit from numerous other therapies, none of which has been shown to improve ST.

The clinical, electrophysiological, radiological and morphological data of 3 members of a family with autosomal dominant distal spinal muscular atrophy (DSMA) are reported. One patient has the clinical picture of peroneal muscular atrophy with atrophic calves. His father and sister suffer from cramps and fasciculations of the calves with true neurogenic muscular hypertrophy of the calves. The electromyogram and the biopsy specimen are conclusive for motor neuron disease in this family. These findings suggest that the DSMA variant as described by D'Alessandro et al. (Arch. Neurol. (1982) 39: 657-660), concerning benign spinal muscular atrophy with hypertrophy of the calves, has to be considered as a mild manifestation of DSMA.

Three Parkinson patients who continued to have difficulties with turning in the horizontal plane despite adequate and therapeutically effective levodopa treatment are presented. The handicap of the disordered axial rotation, to be considered an elementary displacement of the body, could be alleviated by alternative motor strategies or overcome by specific extra stimuli or tactile guidance but not physiotherapeutically restored. On the basis of these clinical observations it is argued that these axial movement abnormalities are apraxic.

Several members of a large pedigree suffering from hereditary congenital external ophthalmoplegia, an autosomal hereditary disorder of ocular movements, were examined and surgically treated. From nystagmographic findings it was concluded that the main cause of this disorder is of supranuclear origin. Specimen of the inferior oblique muscle revealed no abnormalities or showed decrease of type I muscle fibers.

A 33-year-old woman is presented with spondylolisthesis of L4 on L5 with osteolysis of the L4 vertebra, left-sided superior and inferior gluteal nerve paresis and a fracture of the neck of the left femur. The gluteal muscle paresis was thought to be caused by an entrapment of the gluteal nerves through the piriformis muscle, as a consequence of the lumbar lordosis and inadequate stabilization of the back. The femoral fracture was explained by lack of the compensating action of the paretic gluteal muscles, through which an abnormal strain on the femoral neck occurred while climbing a staircase. Innervation disturbance of the superior part of the femoral neck, which is normally innervated by the superior gluteal nerve, might also be a causative factor in the occurrence of this fracture.

A double-blind crossover study of sodium valproate and placebo was conducted in five patients with Meige syndrome. CSF neurotransmitter studies were performed at the end of each treatment period. GABA levels were not influenced by the administration of sodium valproate. An increase in HVA levels was observed in every patient, which may reflect an increase in central dopaminergic activity. This finding may explain the trend towards clinical deterioration which was observed during treatment with sodium valproate. Sodium valproate appears to be ineffective in Meige syndrome.

A patient is described with a right-sided Reader's syndrome and extensive sweating in the frontal area above the right eye. This pathological sweating can be explained by sprouting of lacrimal parasympathetic fibres in the previous denervated sympathetic sudomotor pathways to that area.

Loss of conjugate horizontal eye movements is usually due to a lesion in the pons (tumour, vascular, M.S.). However, the condition may also be congenital, either isolated or as part of Moebius's syndrome. Three patients with congenital absence of all conjugate horizontal eye movements are described. In two of them a conjugate pendular nystagmus was observed. Two of the three patients suffered from progressive scoliosis. Congenital absence of all conjugate horizontal eye movements, associated with progressive scoliosis, probably forms a separate clinical entity.

– A randomized double-blind cross-over study was performed to compare the efficacy of Tizanidine to that of placebo in the treatment of spasmodic torticollis. No evidence was found that Tizanidine was effective in 10 patients with spasmodic torticollis who received Tizanidine during 6 weeks, up to a dose of 12 mg a day.

The half relaxation time (T1/2R) of adductor pollicis muscle contraction after supramaximal ulnar nerve stimulation was measured in normal women and carriers of Duchenne muscular dystrophy. The T1/2R after a single stimulus did not differ in these two groups. The decrease of T1/2R after 2-per-second stimulations, however, was significantly greater in the carriers. The percentage of the T1/2R decrease after 2-per-second stimulations in all of the carriers was below the mean -2 SD value for the controls. These findings suggest that determination of the decrease of the T1/2R of the adductor pollicis muscle with 2-per-second stimulations of the ulnar nerve may be a reliable method for detecting Duchenne muscular dystrophy carriers.

Many organophosphorus compounds, including the organophosphate insecticides, may cause polyneuropathy of delayed onset. An exception is parathion, which has been considered the prototype of nonneurotoxic cholinesterase inhibitors. Nevertheless, we describe a patient with delayed polyneuropathy after suicidal ingestion of parathion.

A case of manifest latent nystagmus of late onset in a 13-year-old girl is reported. The nystagmus became manifest during the development of a hypertropia of the left eye. The spontaneous nystagmus was successfully treated by surgical correction of the hypertropia. The observations are discussed with regard to theories on the origin of latent nystagmus.

The concurrence of the infantile and adult form of acid maltase deficiency in one family is presented. The muscle of both cases possesses residual activity. The glycogen amount in the infantile form is increased tremendously, while in the late-onset the amount of glycogen is normal.

Ocular dipping consists of cycles of eye movements occurring spontaneously, which are characterized by a slow conjugated downward deviation followed after a delay by a quick return to mid position. Ocular dipping is only described in unconscious patients, especially in anoxic comata. Three new patients with this syndrome are described. Electronystagmographic registrations are shown.

A method for measuring the cross-sectional area (CS area) of the peroneal nerve muscle groups (PNMG) by ultrasonography is presented. The method has a good reliability and can be performed easily. The mean value of the ratio (x 100) of the right-sided PNMG CS area to the left-sided PNMG CS area in right-handed normal subjects was 98%, with a standard deviation of 8.5%. The normal range for this value was 81%-115% (mean +/- 2 SD). Examples of these measurements in patients with peroneal pareses during denervation and reinnervation are given.

Caloric nystagmus patterns associated with ocular dysmetria, ocular flutter or flutter dysmetria were studied in ten patients being in a vegetative state, among whom were 9 patients with head injury and 1 with complications caused by a grand mal status. Brain damage was complicated by hypoxemia and especially by brain stem herniation. It was more often observed in very young children and appears to be associated with a poor clinical course. Physostigmine seems to have an activating and provocating effect on these saccadic oscillations. In view of Zee and Robinson's hypothesis on the pathophysiology of saccadic oscillations, it is suggested that these nystagmus patterns may reflect a disturbance of brain stem midline structures (pausing neurons) or an abnormal supranuclear (cerebellum) control.

A 16-week-old girl died from the infantile form of acid maltase deficiency (Pompe disease, acid alpha-glucosidase deficiency). Her paternal grandfather was well until the age of 53 years, when he started to suffer from the adult-onset form of the same enzyme deficiency. This observation suggests that the infantile and adult-onset forms of acid maltase deficiency are genetically related.