Propriospinal myoclonus revisited: Clinical, neurophysiologic, and neuroradiologic findings.

OBJECTIVE: The literature on propriospinal myoclonus (PSM) is poor and there are no systematic reviews of the subject. We sought to clarify the spectrum of PSM. METHODS: We first prospectively investigated all patients seen in our movement disorders clinic with a firm diagnosis of PSM between 2002 and 2007. All had a standardized interview, detailed clinical examination, laboratory investigations, comprehensive neurophysiologic examination, and spinal cord MRI, including diffusion tensor imaging with fiber tracking (DTI-FT). We also collected drug responses. Finally, we conducted a systematic review of the literature. RESULTS: We enrolled 10 patients meeting the strict criteria for PSM, and also analyzed data on 50 patients from 26 previous reports. PSM occurred predominantly in male and middle-aged patients. The typical clinical picture consisted of myoclonic jerks consistently involving abdominal wall muscles, which worsen in the lying position. A premonitory sensation preceding the jerks and wake-sleep transition phase worsening were frequent. Most patients had a myoclonic generator at the thoracic level, with a myoclonus duration between 200 msec and 2 s. An underlying cause was infrequently found. DTI-FT detected cord abnormalities all of our patients. CONCLUSION: The clinico-physiologic spectrum of propriospinal myoclonus (PSM) is homogenous. Involvement of the abdominal wall muscles, worsening in the lying position, premonitory sensation, and wake-sleep transition phase worsening are helpful clinical clues. Diffusion tensor imaging with fiber tracking appears more sensitive than conventional MRI for detecting associated microstructural abnormalities of the spinal cord. Symptomatic treatment of PSM is not straightforward, and clonazepam is reported to be the most effective drug. Zonisamide may be an interesting option.

[Idiopathic generalised epilepsies in the elderly: the viewpoint of a geriatrician]. / Epilepsies généralisées idiopathiques chez le sujet âgé : le point de vue du gériatre.

INTRODUCTION: Long-term follow-up studies indicate a low remission rate in idiopathic generalised epilepsies (IGE) (Martinez-Juarez et al., 2006), suggesting they may persist to an advanced age. However there are few estimates of IGE frequency in the elderly. METHODS: EEGs of 700 patients aged over 70 years, recorded between January 2006 and March 2007, were reviewed for anomalies consistent with IGE. We then examined the clinical history of patients with these anomalies. RESULTS: A persistent IGE was identified in four female patients (mean age: 79 years); in two cases it was a juvenile myoclonic epilepsy (JME) and in two an epilepsy with grand mal seizures. Seizures in three patients had begun in childhood or adolescence and in one at 40 years. Before hospitalization, few or no seizures were reported and IGE had not been diagnosed. IGE was revealed in each patient by a relatively severe event: an absence status (AS), subcontinuous myoclonic seizures or repeated convulsive generalised seizures (CGS). These events were not situation-related but in one patient the relapse of simple convulsive seizures, may have been related to the withdrawal of anti-epileptic drugs (AED) several months previously. EEG records showed generalised spikes or polyspikes and waves organised in a status epilepticus or in interictal rhythmic discharges. In one case they were evident only from a 24 hours recording. Clonazepam injection was used to suppress the AS episode and the subintrant myoclonia. After the AS, interictal generalised epileptic discharges persisted. Two of the four patients had familial history of epilepsy or febrile seizures but in no case was an epileptogenic lesion evident in brain CT scan or MRI. Clinical exams and biologic parameters were normal. All of the patients had worked and were married with children. Appropriate therapies were followed after the diagnosis of IGE. One patient with JME had been treated by Valproate which was discontinued by the general practitioner because of lethargy and replaced by Carbamazepine; seizures were aggravated under both Carbamazepine and then Lamotrigine and until the patient became seizure-free on Levetiracetam. The antiepiletic treatment was also modified in a second patient, while the two others responded well to Valproate. CONCLUSIONS: IGE can exacerbate in the elderly, as different types of seizures including AS, subintrant myoclonia or repeated CGS. Our data suggest persistent IGE are quite frequent in an aged population and may be underestimated due to difficulties in diagnosis. Correctly diagnosed, adjustment of AED may offer substantial clinical improvements in IGE of the elderly.

A two-year trial of oleic and erucic acids ("Lorenzo's oil") as treatment for adrenomyeloneuropathy.

BACKGROUND: Adrenomyeloneuropathy is an X-linked recessive disorder characterized by myelopathy, peripheral neuropathy, and cerebral demyelination, which develop in association with the accumulation of very-long-chain fatty acids. The administration of oleic and erucic acids inhibits the synthesis of very-long-chain fatty acids. Recently such dietary treatment has been widely publicized as a possible cure for this disease. METHODS: We conducted an open trial in 14 men with adrenomyeloneuropathy, 5 symptomatic heterozygous women, and 5 boys (mean age, 13 years) with preclinical adrenomyeloneuropathy. The patients ate a low-fat diet and received daily doses of glycerol trioleate oil (1.7 g per kilogram of body weight) and glycerol trierucate oil (0.3 g per kilogram). Clinical manifestations, cerebral and spinal cord magnetic resonance imaging (MRI) scans, nerve conduction, and brain-stem auditory and somatosensory evoked potentials were studied prospectively over 18 to 48 months. Plasma levels of very-long-chain fatty acids and the side effects of erucic acid were monitored monthly. RESULTS: By week 10, plasma very-long-chain fatty acid levels declined nearly to normal. Nonetheless, over a mean follow-up of 33 months none of the 14 men with adrenomyeloneuropathy improved. In nine men there was functional deterioration, coincident in four with new cerebral lesions on MRI. In a single patient there was a reduction in cerebellar demyelination, but without clinical improvement. In one of the five asymptomatic boys signs of myelopathy developed. There were no changes in the symptomatic heterozygous women. There was some improvement in peroneal-nerve conduction, but no detectable clinical improvement. Conduction to the parietal cortex (T12-P37 interpeak latency) worsened in both the symptomatic men and the boys with preclinical adrenomyeloneuropathy. There was no change in other somatosensory evoked potentials or in brain-stem auditory evoked potentials. Asymptomatic thrombocytopenia (< 100,000 cells per cubic millimeter) was noted in six patients. CONCLUSIONS: In this open trial we found no evidence of a clinically relevant benefit from dietary treatment with oleic and erucic acids ("Lorenzo's oil") in patients with adrenomyeloneuropathy.

Brain MRI and electrophysiologic abnormalities in preclinical and clinical adrenomyeloneuropathy.

We describe the neurophysiologic abnormalities in 17 patients with clinical adrenomyeloneuropathy (AMN), an adult phenotype of X-linked adrenoleukodystrophy (ALD). These abnormalities also allowed the early recognition of the AMN phenotype in three asymptomatic boys with biochemically proven ALD. In 14/16 adult AMN patients, there were cerebral white matter abnormalities on MRI which were severe and comparable with cerebral ALD in four of the patients.