Structural-metabolic, genetic and unknown i.e., cryptogenic epilepsies are common during infancy and childhood. These epilepsy categories may produce similar semiologies and are the influence of genetic factors on a broad range of insults, such as trauma, is yet to be understood. Early infantile epileptic encephalopathy (EIEE) with burst suppression is a progressive epileptic encephalopathy currently in the cryptogenic family. In many cases of EIEE, structural brain damage is present. Severe myoclonic epilepsy in infancy (SMEI) or Dravet syndrome is a rare disorder, with an incidence of less than 1 per 40,000. The percentage of SMEI is 3-7% in patients with seizure onset before the age of 3 years. West syndrome (WS) is characterized by infantile spasms (IS), mental retardation, and a hypsarrhythmic electroencephalogram (EEG) pattern. Approximately 30% of Lennox-Gastaut syndrome (LGS) cases are cryptogenic in origin. Tonic seizures and confusion are the most common ictal manifestations for LGS.

Objective To investigate brain volumes in patients with well-characterized juvenile myoclonic epilepsy (JME). Materials and methods We studied the MRI images of seventeen subjects with EEG and clinically defined JME and seventeen age- and sex-matched controls using voxel-based morphometry (VBM) and automated and manual volumetry. Results We found no significant group differences in the cortical volumes by automated techniques for all regions or for the whole brain. However, we found a larger pulvinar nucleus in JME using VBM with small volume correction and a larger thalamus with manual volumetry (P = 0.001; corrected two-tailed t-test). By analysing the individual subjects, we determined that considerable heterogeneity exists even in this highly selected group. Histograms of all JME and matched control regions' volumes showed more subjects with JME had smaller hippocampi and larger thalami (P < 0.05; chi-square). Subjects in whom the first seizure was absence were more likely to have smaller hippocampi than their matched control, while those without absences showed no differences (P < 0.05, chi-square). Conclusions There is ample evidence for frontal cortical thalamic network changes in JME, but subcortical structural differences were more distinct in this group. Given the heterogeneity of brain volumes in the clinical population, further advancement in the field will require the examination of stringent genetically controlled populations.

Objectives:Previous research has demonstrated that alpha(2) agonists improve working memory performances in healthy individuals and in primates with prefrontal lesions. We conducted this study to determine whether the a2 agonist, guanfacine, could improve working memory performances in patients with frontal lobe epilepsy (FLE) and/or in those with focal epilepsy outside the frontal lobes (ie, temporal lobe epilepsy [TLE]).Methods:Fourteen patients with FLE, 13 patients with TLE, and 10 healthy controls completed immediate and delayed match-to-sample tasks before and after ingestion of 2 to 3 mg of guanfacine.Results:All 3 groups showed an increase in accuracy on the delayed match-to-sample task, but not the immediate match-to-sample task, following administration of guanfacine. Inspection of the group means revealed somewhat greater benefits for the control and FLE groups relative to the TLE group. Increased accuracy was not associated with slower performances in any group, suggesting that the cognitive benefits of guanfacine did not occur at the expense of increased sedation.Conclusions:These data suggest that guanfacine improves working memory in patients with FLE and may be a viable treatment for attenuating such deficits in this patient population.

Executive dysfunction is common in patients with frontal lobe damage and may depend on the location of pathology within the frontal lobes. However, it is unclear how specific brain regions contribute to different aspects of executive functioning. Eighteen patients with frontal lobe epilepsy, 10 patients with juvenile myoclonic epilepsy, and 14 controls completed a series of tests that measure a broad range of executive functions. Resting fluorodeoxyglucose positron emission tomography scans were collected and regional cerebral rates of glucose uptake values were regressed on test scores. Results revealed that frontal lobe metabolic values were strong predictors of executive functioning in patients with epilepsy, but not in healthy controls. However, nonfrontal regions also contributed unique variance on several measures, suggesting that (1) a network of frontal and nonfrontal regions subserve many executive functions and (2) resting hypometabolism can be a useful predictor of executive dysfunction in patients with epilepsy.

Purpose: We performed this study to determine whether significant head trauma in human adults can result in hippocampal cell loss, particularly in hilar (polymorph) and CA3 neurons, similar to that observed in animal models of traumatic brain injury. We examined the incidence of hippocampal pathology and its relation to temporal neocortical pathology, neuronal reorganization, and other variables.Methods: Twenty-one of 200 sequential temporal lobectomies had only trauma as a risk factor for epilepsy. Tissue specimens from temporal neocortex and hippocampus were stained with glial fibrillary acidic protein (GFAP) and hematoxylin and eosin (H&E). Eleven hippocampal specimens had additional analysis of neuronal distributions by using cresyl violet and immunolabeling of a neuron-specific nuclear protein.Results: The median age at onset of trauma was 19 years, the median time between trauma and onset of seizures was 2 years, and the median epilepsy duration was 16 years. The length of the latent period was inversely related to the age at the time of trauma (r = 0.75; Spearman). The neocortex showed gliosis in all specimens, with hemosiderosis (n = 8) or heterotopias (n = 6) in some, a distribution differing from chance (p = 0.02; Fisher). Hippocampal neuronal loss was found in 94% of specimens, and all of these had cell loss in the polymorph (hilar) region of the dentate gyrus. Hilar cell loss ranged from mild, when cell loss was confined to the hilus, to severe, when cell loss extended into CA3 and CA1. Some degree of mossy fiber sprouting was found in the dentate gyrus of all 10 specimens in which it was evaluated. Granule cell dispersion (n = 4) was seen only in specimens with moderate to severe neuronal loss.Conclusions: Neocortical pathology was universally present after trauma. Neuronal loss in the hilar region was the most consistent finding in the hippocampal formation, similar to that found in the fluid-percussion model of traumatic head injury. These findings support the idea that head trauma can induce hippocampal epilepsy in humans in the absence of other known risk factors.

Background: Epilepsy surgery involves well-planned discrete injury to the brain and may create visual deficits. This study seeks to evaluate the indirect effects of temporal lobectomy on brain metabolism by correlating visual field defects and glucose metabolism in the visual cortex of patients before and after undergoing epilepsy surgery. Methods: A retrospective survey of 11 patients who had undergone temporal lobectomy for refractory epilepsy in a single institution from 1986 to 1989, and who had pre-lobectomy and post-lobectomy visual field examinations and F-18 2-fluorodeoxyglucose positron emission tomography (FDG-PET) as part of a standard comprehensive epilepsy surgery evaluation. The PET images were analyzed to provide a correlation with the visual field defects that developed after the temporal lobectomy. Results: Occipital hypometabolism in the absence of structural lesions of the occipital lobe was noted in seven patients with contralateral visual field defects and in one of four patients without a visual field defect. FDG-PET studies in three patients repeated for as long as 20 months after lobectomy showed no significant change in the occipital hypometabolism pattern. Conclusions: Although the occipital cortex was not directly injured during temporal lobectomy, the resulting hypometabolism correlates with the clinical findings of visual field defects. The hypometabolism may be due to deafferentation after interruption of the optic pathways and appears to be persistent.

Clinically differentiating between localisation related and generalised epilepsy is important because it carries significant implications for planning diagnostic management strategy. Asymmetry of body parts such as toes, popliteal crease levels, thumbs, cubital crease levels, and forehead and facial structures, are common in patients with localisation related epilepsy syndromes. We retrospectively studied 337 patients with seizure disorders. Body part asymmetry was routinely documented. Fifty-six were excluded because of non-epileptic seizures, pure psychiatric disorders, non-epileptic neurological disorders, brain tumours and strokes. The relationship between clinically detectable body asymmetry (BA) and the electro-anatomic characteristics of their epilepsy was explored. Body asymmetry was found in 88 out of 282 cases, in which 64 (73.5%) suffered from localisation related epilepsy. Among localisation related epilepsy, BA were found in 41.5% (n=64/154) of patients. In contrast, only 18.75% (n=24/128) of patients with generalised seizure disorders showed similar findings (P<0.0001). Among patients with partial onset seizures, lateralisation of BA was concordant with their seizure origin in 75.9% (n=41/54) and discordant in 24.1% (n=13/54). Investigation results of 10 partial epilepsy cases were non-lateralising at the time of study. Peak age of onset of concordant case was 0-5 years old while discordant group was 6-15 years old. We conclude that BA in patients with seizure disorder is a useful clue to diagnosis of localisation related seizure and may provide clues for lateralising seizure origin in partial onset seizures.

We describe a family of Slovenian descent with progressive ataxia, corticospinal signs, axonal sensorimotor neuropathy, and disruption of visual fixation by saccadic intrusions. Chromosome mapping indicated a mutation on 1p36, and this recessive disorder has been designated spinocerebellar ataxia with saccadic intrusions. Affected patients showed overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades; other eye movements were normal. Slowed conduction in axons that are selectively vulnerable to the molecular defect could explain both the sensorimotor neuropathy and the saccadic disorder, which would be caused by delayed feedback control because of slow conduction in cerebellar parallel fibers.

Annals of the New York Academy of SciencesVolume 956, Issue 1 p. 441-444 A Form of Inherited Cerebellar Ataxia with Saccadic Intrusions, Increased Saccadic Speed, Sensory Neuropathy, and Myoclonus BARBARA E. SWARTZ, Corresponding Author BARBARA E. SWARTZ Veterans' Affairs Medical Center and Case Western University, Cleveland 44106, Ohio, USAAddress for correspondence: Barbara A. Swartz, M.D., Ph.D., Department of Neurology, University Hospitals of Cleveland, 11100 Euclid Avenue, Cleveland, OH 44106. Voice: 216-844-3714; fax: 216-844-5066; [email protected].Search for more papers by this authorMARGIT BURMEISTER, MARGIT BURMEISTER University of Michigan, Ann Arbor, Michigan, USASearch for more papers by this authorJEFFREY T. SOMERS, JEFFREY T. SOMERS Johnson Space Center, Houston, Texas, USASearch for more papers by this authorKLAUS G. ROTTACH, KLAUS G. ROTTACH 87600 Kaufbeuren, GermanySearch for more papers by this authorIRINA N. BESPALOVA, IRINA N. BESPALOVA University of Michigan, Ann Arbor, Michigan, USASearch for more papers by this authorR. JOHN LEIGH, R. JOHN LEIGH Veterans' Affairs Medical Center and Case Western University, Cleveland 44106, Ohio, USASearch for more papers by this author BARBARA E. SWARTZ, Corresponding Author BARBARA E. SWARTZ Veterans' Affairs Medical Center and Case Western University, Cleveland 44106, Ohio, USAAddress for correspondence: Barbara A. Swartz, M.D., Ph.D., Department of Neurology, University Hospitals of Cleveland, 11100 Euclid Avenue, Cleveland, OH 44106. Voice: 216-844-3714; fax: 216-844-5066; [email protected].Search for more papers by this authorMARGIT BURMEISTER, MARGIT BURMEISTER University of Michigan, Ann Arbor, Michigan, USASearch for more papers by this authorJEFFREY T. SOMERS, JEFFREY T. SOMERS Johnson Space Center, Houston, Texas, USASearch for more papers by this authorKLAUS G. ROTTACH, KLAUS G. ROTTACH 87600 Kaufbeuren, GermanySearch for more papers by this authorIRINA N. BESPALOVA, IRINA N. BESPALOVA University of Michigan, Ann Arbor, Michigan, USASearch for more papers by this authorR. JOHN LEIGH, R. JOHN LEIGH Veterans' Affairs Medical Center and Case Western University, Cleveland 44106, Ohio, USASearch for more papers by this author First published: 24 January 2006 https://doi.org/10.1111/j.1749-6632.2002.tb02850.xCitations: 26Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES 1 Evidente, V.G.H. et al. 2000. Hereditary ataxias. Mayo Clin. Proc. 75: 475–490. 2 Leigh, R.J. & D.S. Zee. 1999. The Neurology of Eye Movements, 3rd ed. Oxford University Press. New York. 3 Rottach, K.G. et al. 1996. Dynamic properties of horizontal and vertical eye movements in parkinsonian syndromes. Ann. Neurol. 36: 129–141. 4 Ramat, S. et al. 1999. Conjugate ocular oscillations during shifts of the direction and depth of visual fixation. Invest. Ophthalmol. Visual Sci. 40:1681-1686. 5 Spieker, S. et al. 1995. Fixation instability and oculomotor abnormalities in Friedreich's ataxia. J. Neurol. 242: 517–521. 6 Robinson, F.R., A. Straube & A.F. Fuchs. 1993. Role of the caudal fastigial nucleus in saccade generation. II. Effects of muscimol inactivation. J. Neurophysiol. 70: 1741–1758. Citing Literature Volume956, Issue1NEUROBIOLOGY OF EYE MOVEMENTS: FROM MOLECULES TO BEHAVIORApril 2002Pages 441-444 ReferencesRelatedInformation