Parkinson syndrome as a manifestation of mitochondriopathy.

Objectives: Although there is growing evidence for a relation between Parkinson syndrome (PS) and mitochondriopathy (MCP), little is known about the frequency of PS in MCP.

Material And Methods: This study assessed the frequency of PS in patients with MCP, the phenotype of these patients, and their response to anti-Parkinson medication, during a 1-year period.

Results: Between April 1999 and March 2000 PS was diagnosed in nine of 76 patients with MCP (12%).

Déjà vu: possible parahippocampal mechanisms.

Déjà vu experiences are common in normal subjects. In addition, they are established symptoms of temporal lobe seizures. The author argues that the phenomenon is the result of faulty and isolated activity of a recognition memory system that consists of the parahippocampal gyrus and its neocortical connections.

Spontaneous left ventricular hypertrabeculation in dystrophin duplication based Becker's muscular dystrophy.

Background: Left ventricular hypertrabeculation is frequently associated with neuromuscular disorders. Whether left ventricular hypertrabeculation in these patients is congenital or develops during lifetime, is unknown.

Case Report: In a 65-year-old man with Becker's muscular dystrophy, due to a duplication in the dystrophin gene on chromosome Xq21 (dystrophin molecular weight: 500 kD), left ventricular hypertrabeculation was detected on transthoracic echocardiography although being absent in repeated previous echocardiographic examinations.

Complex mitochondriopathy associated with 4 mtDNA transitions.

In a 33-year-old man, mitochondriopathy was diagnosed upon short stature, auditory impairment, gynaecomastia, hypogonadism, vertical ophthalmoplegia, cerebral atrophy, leucencephalopathy, cataract, hypertrabeculated left ventricle, hypothyroidism, diabetes mellitus, glomerulonephritis necessitating kidney transplantation, general wasting, polyneuropathy, abnormally high lactate levels on exercise, partially reduced cytochrome-c oxidase staining and abnormally structured mitochondria on muscle biopsy. Mitochondrial DNA (mtDNA) analysis revealed 1 novel (A15662G) and 3 known mtDNA transition(s) (T3398C, T4216C, G15812A) affecting the cytb and ND1 gene, respectively. Three of the patient's transitions were also detected in blood leukocytes of the patient's maternal grandmother, mother and brother.

Cardiac involvement in Werdnig-Hoffmann's spinal muscular atrophy.

Despite the increasing interest in cardiac involvement (CI) of neuromuscular disorders, only few data are available on CI in spinal muscular atrophy (SMA). We tried to determine the cardiac manifestations of SMA, their incidence rates and the necessity of cardiac therapy in patients with SMA and CI. Eight patients with SMA, aged 10-79 years, underwent clinical cardiologic examination, ECG, echocardiography and ambulatory ECG.

Diagnostic work-up in peripheral neuropathy: an analysis of 171 cases.

This study was set up to evaluate retrospectively the efficacy of a standard diagnostic procedure, including non-invasive and invasive (spinal tap, nerve/muscle biopsy) investigations, in the diagnosis of peripheral neuropathy. The medical records of 171 in-patients with the final diagnosis of peripheral neuropathy of determined or undetermined cause were reviewed and each individual diagnostic work-up was analysed. Basic investigations included the patient's history, a clinical examination and basic laboratory tests.

Liquorpheresis (CSF filtration) in familial amyotrophic lateral sclerosis.

Objectives: Liquorpheresis (CSF filtration) has been shown to be of benefit in various neurologic disorders, including sporadic ALS. Liquorpheresis in patients with familial ALS, has not been investigated so far.

Methods: A 52-year-old woman with familial ALS is reported who underwent liquorpheresis during 4 consecutive days.

Macro-EMG in mitochondriopathy.

Objectives: In a previous macro-EMG study on patients with mitochondriopathy, macro-MUAP amplitude has been shown to be the electromyographic parameter most often abnormal. We wanted to investigate the role of the macro-MUAP area and if macro-EMG is more helpful than conventional needle-EMG in detecting involvement of the skeletal muscle in patients with mitochondriopathy.

Methods: From the right brachial biceps muscles of 38 healthy subjects and 20 patients with primary mitochondriopathy, aged 23-72 y, conventional needle EMGs and macro-EMGs were recorded one after the other.

The role of the intact hemisphere in recovery of midline muscles after recent monohemispheric stroke.

Transcranial magnetic stimulation (TMS) of the motor cortex was used to study basic mechanisms of motor reorganization after major hemispheric stroke in humans. We sought to clarify the possible role of the intact hemisphere in motor recovery of the lingual muscles, and to evaluate the compensatory use of preexisting uncrossed motor pathways projecting to these midline muscles. TMS and bilateral surface recordings from the lingual muscles were carried out in six selected stroke patients who presented with a unilateral lingual paralysis after a limited monohemispheric ischemia.

Influence of spontaneous activity on peak-ratio analysis.

Objectives: To prove or disprove this assumption that in neuropathy patients with abundant spontaneous activity, peak-ratio interference pattern analysis may lead to false negative results.

Methods: Spontaneous activity >100 microV, automatically analysed by turn/amplitude analysis and expressed as (turns/second)/2 ((T/S)/2), and interference patterns, analysed by the peak-ratio technique, were recorded, one after the other, from the right anterior tibial muscle of 21 patients with neuropathy, aged 36-87 years.

Results: The mean number of spontaneous discharges ((T/S)/2) was 12.

Needle electromyography of bulbar muscles in patients with amyotrophic lateral sclerosis: evidence of subclinical involvement.

Objective: To determine if quantitative motor unit action potential (MUAP) analysis and peak ratio interference pattern analysis of the fifth, seventh, and eleventh cranial nerve innervated muscles are helpful in the assessment of subclinical bulbar involvement in ALS.

Methods: With both electromyographic (EMG) techniques, electrical activity was recorded via needle electrodes from the right frontalis, masseter, and sternocleidomastoideus muscles of nine ALS patients without clinical bulbar signs (Frenchay score >85%) aged 40 to 87 years; 21 healthy subjects aged 27 to 74 years; and five ALS patients with clinical bulbar signs (Frenchay score <85%) aged 53 to 69 years.

Results: The normal mean (2 SD) MUAP duration of the frontalis muscle was 7.

Motor evoked potentials in unilateral lingual paralysis after monohemispheric ischaemia.

Objectives: The occurrence of a lingual paralysis after unilateral upper motor neuron lesions is an infrequent clinical phenomenon, and the underlying pathophysiological mechanisms are poorly understood. We studied the cortical motor representations of ipsilateral and contralateral lingual muscles in healthy controls and in a selected group of stroke patients, to clarify the variable occurrence of a lingual paralysis after recent monohemispheric ischaemia.

Methods: A special bipolar surface electrode was used to record the ipsilateral and contralateral compound muscle action potentials (CMAPs) from the lingual muscles after transcranial magnetic stimulation (TMS) of the human motor cortex and peripheral electrical stimulation (PES) of the hypoglossal nerve medial to the angle of the jaw.

Increased sensitivity to rocuronium and atracurium in mitochondrial myopathy.

Purpose: To describe the prolonged effect of the intermediate-acting, non-depolarising neuromuscular blocking agents rocuronium and atracurium in a 29-yr-old apparently healthy woman.

Clinical Features: Because of abdominal pain the patient was scheduled for explorative laparoscopic pelvic examination. General anaesthesia was induced with fentanyl, midazolam and propofol.

Chest pain in cardiac syndrome X--caused by neuromuscular disorders?

We wanted to find out if chest pain in cardiac syndrome X can be a manifestation of neuromuscular disorders. Five patients with cardiac syndrome X (3 women, 2 men), aged 34 to 70 years, consented with a clinical neurological examination, muscle enzyme testing, electroneurography of the right median and peroneal nerves and electromyography of the right brachial biceps and anterior tibial muscles. A neuromuscular disorder was found in 1 of the 5 investigated patients.

Malnutrition-induced hypokalemic myopathy in chronic alcoholism.

A 42-year-old man with a history of Billroth II-gastrectomy, chronic alcoholism, and malnutrition developed acute tetraparesis, two days before admission. He presented with bilateral, proximal upper and lower limb weakness, limb girdle wasting, bilaterally reduced Achilles tendon reflexes, and bilateral stocking-type sensory disturbances. Laboratory data revealed hypokalemia (2.