1/19. Hippocampal sclerosis: development in adult life.Hippocampal sclerosis (HS) is the most common pathological lesion underlying intractable temporal lobe epilepsy. It is not known whether HS exists before the onset of epilepsy or whether it is caused by seizures. Its has been proposed that childhood seizures cause HS. Optimized magnetic resonance imaging (MRI), hippocampal volumes and T(2) signal quantitation were performed 2 weeks and 8 months following at tonic-clonic seizure in a 23-year-old man. MRI 14 days after the seizure showed symmetrical hippocampal volumes (ratio R/L = 1.03) with intact internal architecture bilaterally but marked signal change in the right hippocampus (T(2) right = 121, T(2) left = 103, normal < or = 108 ms). Eight months later this hippocampus showed severe atrophy with a volume ratio of 0.65 and T(2) values of 117 (right) and 109 ms (left). High-resolution imaging showed that volume loss occurred mainly in the CA1 region which showed high signal in the initial study. Characteristic MRI features of HS can develop in adults and HS cannot always be assumed to have its origins in childhood. Hypoxia in the context of seizures may be an important component in hippocampal damage. HS may be a preventable lesion and MRI signal change seen in the neuronal layers of the hippocampus may be an indication for neuroprotection. copyright copyright 1999 S. Karger AG, Basel- - - - - - - - - - ranking = 1keywords = neuronal (Clic here for more details about this article) |
2/19. Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis.Northern epilepsy is an autosomal recessive childhood onset epilepsy syndrome, clinically characterized by generalized tonic-clonic seizures with onset at 5 to 10 years of age and subsequent slowly progressive mental deterioration. The patients may reach 50 or 60 years of age. A mutation responsible for the disease has recently been identified in a novel gene on chromosome 8p23, encoding a putative membrane protein with an unknown function. The present study, based on three autopsied patients, is the first neuropathological analysis of the disease, and showed intraneuronal accumulation of cytoplasmic autofluorescent granules. The granules were strongly stained by the Luxol fast blue, periodic acid-Schiff, and sudan black B methods in paraffin sections, and were immunoreactive for subunit c of the mitochondrial ATP synthase and sphingolipid activator proteins A and D. The intraneuronal storage was highly selective: the third layer of the isocortex and the hippocampal CA2, CA3, and CA4 sectors were severely affected, while other layers of the isocortex, the CA1 sector, and the cerebellar cortex were only minimally involved. The membrane-bound storage cytosomes showed a curvilinear ultrastructure with admixture of some granular components. Western blotting and N-terminal sequence analysis of purified storage material identified subunit c as the major component.These findings establish Northern epilepsy as a new form of neuronal ceroid-lipofuscinosis with an exceptionally protracted course.- - - - - - - - - - ranking = 7keywords = neuronal (Clic here for more details about this article) |
3/19. Clinical and video-polygraphic features of epileptic spasms in adults with cortical migration disorder.The International classification of Epileptic Syndromes considers epileptic spasms to be typical seizures of West syndrome. literature reports show that spasms are present in epileptic syndromes other than West syndrome but there are few data on their characteristics in adults. We describe ictal, clinical and video-polygraphic findings in three patients (aged 21, 32 and 57 years) with epileptic spasms and with diffuse (case 2), focal right fronto-parietal (case 1) and bi-opercular (case 3) pachygyria. Spasms had been present since the ages of 1 month, 11 and 27 years respectively. Only one patient is mentally retarded. Two of our patients (cases 2 and 3) have partial seizures. Ictal polygraphic studies showed a positive, diffuse, high amplitude slow wave activity during spasms, with superimposed fast activity, followed by a diffuse flattening in all cases with a typical muscle pattern. Epileptic spasms, as typically described in West syndrome, can maintain the same semeiological and electroencephalographic features during adulthood in certain patients with cortical dysplasia.- - - - - - - - - - ranking = 1106.7651261894keywords = migration disorder, migration (Clic here for more details about this article) |
4/19. An MRI and neuropathological study of a case of fatal status epilepticus.We report a case of fatal status epilepticus of unknown origin resulting in acute neuropathological changes in the hippocampus and claustrum.The case history, brain magnetic resonance images, and results of neuropathological study of the whole brain were obtained.The subject was a 35 year old male with no significant previous medical history who presented with generalized epileptic seizures progressing to status epilepticus. He died 6 days after developing status epilepticus. magnetic resonance imaging (MRI) brain scans were performed before and four days after developing status epilepticus. The first scan was normal and the second showed high signal lesions on T2 weighted images in the medial aspects of both temporal lobes and in the right claustrum. Neuropathological studies showed severe neuronal loss in the Sommer section of both hippocampi with early glial reactive changes. Similar changes were seen in the claustrum on both sides. There was no evidence of other causes of brain injury such as infectious encephalitis or global hypoxic-ischaemic change.The patient died of status epilepticus for which no underlying cause was found despite extensive investigation. In this case the radiological and pathological changes found bilaterally in the claustrum and hippocampus appear to be the direct result of the status epilepticus.- - - - - - - - - - ranking = 1keywords = neuronal (Clic here for more details about this article) |
5/19. Papillary glioneuronal tumor--a new tumor entity.Glioneuronal neoplasms of the CNS comprises a heterogeneous group of generally low-grade tumors expressing glial and neuronal cells of varying differentiation. Recently, a new variant of the glioneuronal tumors has been identified. We present a case of a glioneuronal tumor located in the left frontal lobe of a 16-year-old boy who developed seizures 6 months after brain concussion. MR scan demonstrated an irregular, but well circumscribed, mixed cystic and solid tumor with contrast enhancement in the solid part. histology showed a papillary glioneuronal tumor. The tumor is indolent with no sign of recurrence after gross total resection.- - - - - - - - - - ranking = 9keywords = neuronal (Clic here for more details about this article) |
6/19. Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy.PURPOSE: To identify mutations of the neuronal nicotinic acetylcholine receptor alpha4 subunit gene (CHRNA4) responsible for autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) in a group of white patients. methods: A group of 47 patients from 21 unrelated families with ADNFLE were screened for mutations in CHRNA4. Clinical features and EEG findings in the patients were consistent with those reported in the literature for other affected families. The entire gene was amplified from genomic dna by polymerase chain reaction (PCR) followed by multitemperature single-strand conformation polymorphism analysis (MSSCP) and sequencing. RESULTS: A c.851C>T transition in exon 5 of CHRNA4 was identified in three affected individuals from two generations of the same family, but not in the remaining patients or in 100 healthy volunteers. This mutation caused an S284L substitution in the transmembrane domain M2 segment of the alpha4 subunit of the neuronal nicotinic acetylcholine receptor. The same mutation had previously been detected in a single Japanese family with ADNFLE, and in an Australian woman with a sporadic form of NFLE. CONCLUSIONS: This is the first report of an occurrence of c.851C>T transition in a white family with ADNFLE.- - - - - - - - - - ranking = 2keywords = neuronal (Clic here for more details about this article) |
7/19. Coexisting muscular dystrophies and epilepsy in children.muscular dystrophies are composed of a variety of genetic muscle disorders linked to different chromosomes and loci and associated with different gene mutations that lead to progressive muscle atrophy and weakness. Fukuyama congenital muscular dystrophy is frequently associated with partial and generalized epilepsy and congenital brain anomalies, including cobblestone complex and other neuronal migration defects. We report generalized convulsive epilepsy in a boy with normal brain magnetic resonance imaging and Duchenne muscular dystrophy with deletion of dystrophin gene, and we report absence epilepsy with normal brain magnetic resonance imaging in another boy with limb girdle muscular dystrophy with partial calpain deficiency. We, therefore, review coexisting muscular dystrophies and epilepsy in children. In addition to Fukuyama congenital muscular dystrophy, partial or generalized epilepsy has also been reported in the following types of muscular dystrophies, including Duchenne/Becker dystrophy, facioscapulohumeral dystrophy, congenital muscular dystrophy with partial and complete deficiency of laminin alpha2 (merosin) chain, and limb girdle muscular dystrophy with partial calpain deficiency.- - - - - - - - - - ranking = 1.0631234375387keywords = neuronal, migration (Clic here for more details about this article) |
8/19. Effectiveness of cerebral hemispherotomy for improving behavioral disorders associated with intractable post-traumatic seizures.A 25-year-old man presented with intractable post-traumatic seizures after suffering cerebral contusion in a traffic accident at age 5 years. Cerebral hemispherotomy was performed to transect the neuronal fibers to interrupt connections between seizure foci in wide areas of the brain, and to minimize the resected brain parenchyma. His seizures resolved and behavioral disorders improved, which had been impaired since age 8 years. Increased glucose metabolism in the normal frontal lobe detected by interictal fluorodeoxyglucose-positron emission tomography was correlated with the improvements in behavioral disorders. These findings suggest that the effects of seizures may be reversible in brain areas connected with, but remote from, the epileptogenic cortex.- - - - - - - - - - ranking = 1keywords = neuronal (Clic here for more details about this article) |
9/19. A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms.An unusual pedigree of female-limited seizures with or without mental retardation is updated. The disorder was first detected in a large cohort of women whose fathers were brothers, and affected women had previously transmitted the disorder. Four brothers of affected females have now had five unaffected daughters while four affected women have had four affected and one unaffected daughters and two unaffected sons. This unusual transmission pattern is discussed in terms of germ-line imprinting, neuronal sexual differentiation, and the generally higher risk of seizures seen when the mother, rather than the father, is affected.- - - - - - - - - - ranking = 1keywords = neuronal (Clic here for more details about this article) |
10/19. The spectrum of cortical myoclonus. From focal reflex jerks to spontaneous motor epilepsy.The purpose of this paper is to draw attention to the wide range of clinical motor phenomena which may be caused by abnormal sensorimotor cortical discharge. Eleven selected patients with cortical myoclonus are described. In all cases the brief muscle jerks appeared to involve cerebral cortical mechanisms, for there were enlarged cerebral evoked potentials to somatosensory or visual stimuli and (in 5 of the 6 cases investigated in this way) a time-locked cortical event preceded spontaneous or action-induced jerking. In some patients, cortical myoclonus occurred only in response to a variety of afferent inputs (cortical reflex myoclonus). In others, the myoclonus occurred only during movement, when cortical mechanisms were activated voluntarily (cortical action myoclonus), or the cortical discharge occurred spontaneously (spontaneous cortical myoclonus and epilepsia partialis continua), and even spread to cause focal motor epilepsy (Jacksonian seizures). Some patients showed combinations of stimulus sensitive and spontaneous myoclonus, epilepsia partialis continua, focal motor epilepsy and generalized grand mal seizures. Such variations probably represent subtle differences in the site of abnormality in sensorimotor cortical neuronal mechanisms.- - - - - - - - - - ranking = 1keywords = neuronal (Clic here for more details about this article) |
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