Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation is a disorder caused by recessive mutations in the gene DARS2, which encodes mitochondrial aspartyl-tRNA synthetase. Recent observations indicate that the phenotypic range of the disease is much wider than initially thought. Currently, no treatment is available.

Focal myositis--neurogenic phenomenon?

We report four cases of focal myositis. The patients, three men and one woman, had painful muscle hypertrophy, affecting four different sites. MRI confirmed the muscle enlargement and oedema.

A rare form of painful nondystrophic myotonia.

Objective: In this paper we report a painful nondystrophic myotonia which has not been previously described. Pain is a rare symptom in myotonia. We report a myotonic disorder in a 34-year-old woman and her 14-year-old daughter.

A double-blind placebo-controlled study assessing the efficacy and tolerability of 50 mg sumatriptan tablets in the acute treatment of migraine. Sumatriptan Tablets S2CM07 Study Group.

Background: Oral sumatriptan 50 mg has been found to have good efficacy and tolerability in the acute treatment of migraine but has been less well studied than the 100 mg dose.

Methods: This was a double-blind, parallel-group study (Glaxo Wellcome protocol number S2CM07) comparing the efficacy and safety of sumatriptan 50 mg tablets with placebo in the acute treatment of migraine. Patients treated three migraine attacks with study medication; a second, optional dose was available for treating recurrent headache.

Oculopharyngeal muscular dystrophy in Norway. Survey of a large Norwegian family.

Objectives: Oculopharyngeal muscular dystrophy was first described by Taylor in 1915. A substantial number of cases have been reported from North America, the disorder being most frequent in Quebec, Canada.

Material: The onset of disease is in middle life, most often presenting with ptosis and a slight degree of ophthalmoplegia, followed some years later by dysphagia and often by proximal limb weakness.

Generator sites for spontaneous activity in neuromyotonia. An EMG study.

A 16-year-old female patient with symptoms and signs compatible with neuromyotonia was studied with various neurophysiological tests and with muscle biopsy. Nerve conduction studies revealed signs of axonal motor neuropathy. EMG showed denervation in distal muscles, and moderate neurogenic changes in other muscles.

[Lumbar disk prolapse treated with chymopapain].

We report results from 108 consecutive patients followed up for one year after chymopapain injection. The patients were selected on strict clinical and radiological criteria. In nine patients (8%) the result was poor, and they were surgically treated within one year after the injection.

Provokable bilateral vertebral artery compression diagnosed with transcranial Doppler.

Background: Head and neck movements may cause vascular compression that produces a syndrome of vertebrobasilar insufficiency. Vertebrobasilar circulation was examined noninvasively in two patients who were able to provoke these symptoms repeatedly on demand.

Case Descriptions: Blood flow velocities in the basilar artery (case 1) and both posterior cerebral arteries (both cases) were measured continuously by transcranial Doppler sonography while the patients voluntarily performed the offending maneuvers and reproduced their symptoms.

Multimodal evoked responses and cerebrospinal fluid oligoclonal immunoglobulins in patients with multiple sclerosis.

One hundred patients with possible, probable and definite multiple sclerosis (MS) were examined with somatosensory (SER), visual (VER) and brain stem auditory (BAER) evoked responses. Paired samples of cerebrospinal fluid (CSF) and serum were examined with agarose gel electrophoresis to detect intrathecally synthesized oligoclonal immunoglobin bands. Comparison of the number of abnormal CSF and evoked response tests showed that the CSF examination was slightly more sensitive in all diagnostic groups when compared to the results of multimodal evoked responses but that the two sets of test were in part supplementary.