Progressive myoclonus epilepsy type 1 (EPM1, also known as Unverricht-Lundborg disease) is an autosomal recessive disorder characterized by progressively worsening myoclonic jerks, frequent generalized tonic-clonic seizures, and a slowly progressive decline in cognition. Recently, two mutations in the cystatin B gene (also known as stefin B, STFB) mapping to 21q22.3 have been implicated in the EPM1 phenotype: a G-->C substitution in the last nucleotide of intron 1 that was predicted to cause a splicing defect in one family, and a C-->T substitution that would change an Arg codon (CGA) to a stop codon (TGA) at amino acid position 68, resulting in a truncated cystatin B protein in two other families. A fourth family showed undetectable amounts of STFB mRNA by northern blot analysis in an affected individual. We present haplotype and mutational analyses of our collection of 20 unrelated EPM1 patients and families from different ethnic groups. We identify four different mutations, the most common of which consists of an unstable approximately 600-900 bp insertion which is resistant to PCR amplification. This insertion maps to a 12-bp polymorphic tandem repeat located in the 5' flanking region of the STFB gene, in the region of the promoter. The size of the insertion varies between different EPM1 chromosomes sharing a common haplotype and a common origin, suggesting some level of meiotic instability over the course of many generations. This dynamic mutation, which appears distinct from conventional trinucleotide repeat expansions, may arise via a novel mechanism related to the instability of tandemly repeated sequences.

The physiological effects on submaximal and maximal exercise of three methods commonly used by athletes for achieving rapid weight loss were determined by measuring cardiorespiratory variables in 62 nonendurance athletes. A mean weight loss of 4.1% was achieved by those who followed either a sauna (SAU), diuretic (DIU), or exercise (ACT) protocol, compared with the average weight loss of 1.2% in the control group. At maximal exercise O2 consumption, O2 pulse, blood lactate concentration, and work load decreased in SAU and DIU groups relative to the ACT group, whereas only a few differences were observed at the aerobic threshold. Weight loss achieved over a 48-h period was less detrimental to an athlete than was a more rapid (24-h) weight reduction achieved through sauna bathing or the use of diuretics. We conclude that not only the quantity of weight loss but also the method itself may limit physical performance.

To evaluate the role of different EEG methods with respect to postoperative clinical follow-up, 32 non-lesionary epilepsy patients who had undergone temporal lobectomy were studied preoperatively and at 2-week, 3-month, and 1-year postoperative follow-up. Routine, sleep, and sphenoidal EEG recordings as well as intraoperative electrocorticography (ECoG) were made for all patients. At 1-year follow-up, the EEGs with sphenoidal electrodes and with sleep deprivation procedure provided important prognostic information; the appearance of seizures was associated with the presence of interictal epileptiform abnormalities in EEG. In the postresection ECoG, however, epileptiform abnormalities were not associated with clinical outcome or with postoperative epileptiform EEG at 1 year. Routine EEG reliably reflects clinical outcome after temporal lobectomy; with sphenoidal electrodes as well as with sleep deprivation procedure, the diagnostic yield can be further improved.

The effects of gamma-vinyl GABA (GVG) and carbamazepine (CBZ) monotherapy on somatosensory (SEP) and visual (VEP) evoked potentials and spectral quantitative EEG (QEEG) were studied in 17 patients with complex partial seizures using a cross-over double-blind study design. CBZ was associated with statistically significant prolongation of SEP latencies. When the drug was switched to GVG, shortening of the peak latencies was observed. Prolonged pattern-VEP peaks were observed both during CBZ and GVG monotherapies. A similar but more subtle tendency of the peaks was observed in P100 latencies. Spectral EEG revealed a slowing of the occipital rhythm with CBZ. No QEEG changes related to GVG were found. The use of multimodal evoked potentials and QEEG should be considered in studying the effects of new antiepileptic drugs (AEDs).

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