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Biomedical subjects

Frederick Andermann

Publications and source records attributed to Frederick Andermann.

At least 37 records · Page 2Linked to original sources
PubMed2005

Reflex seizures in patients with malformations of cortical development and refractory epilepsy.

PURPOSE: Malformations of cortical development (MCDs) are usually highly epileptogenic, and their hyperexcitability could facilitate the occurrence of reflex seizures. We sought to characterize reflex seizures in patients with MCDs and refractory epilepsy. METHODS: Clinical, electrographic, and neuroimaging data were reviewed in eight patients with MCDs who had reflex seizures reproduced during presurgical evaluation. RESULTS: All eight patients had both reflex and spontaneous seizures. In six, however, drop attacks or axial myoclonic seizures occurred only upon specific sensory stimulation. Reflex seizures were induced by more than one type of stimulus in most patients, but anatomofunctional correlations could usually be invoked. Six patients had significant intellectual impairment. Surgical resection controlled seizures in two patients. CONCLUSIONS: Reflex seizures in patients with MCDs may be medically refractory and may often manifest as drop attacks or axial myoclonus. Surgical resection of focal lesions can bring reflex seizures under control. Putative mechanisms related to the relatively low frequency of reflex seizures in MCDs are discussed.

Adolescent↗
PubMed2005

Epileptogenesis due to peripheral injury as a cause of focal epilepsy.

PURPOSE: To report three patients in whom focal epilepsy developed shortly after painful soft tissue injuries to their hands. METHODS: Case reports. RESULTS: The attacks started in the injured hand. No evidence was found of an underlying brain lesion by history or from imaging studies. CONCLUSIONS: These cases suggest the possibility that the injuries led to a plastic change in the sensory/motor cortex, leading to increased excitability and ultimately to seizures. This suggests that epileptogenesis can occur in response to painful peripheral stimuli in some individuals.

Adult↗
PubMed2005

Characteristics of headache associated with intractable partial epilepsy.

PURPOSE: The association between headache (HA) and epilepsy is well known. However, few previous studies characterized HA types and head sensations (HSens) in large populations of individuals with well-defined forms of epilepsy. METHODS: To analyze the incidence of HA in such a group, we compare HA and non-HA patients to identify special predictive factors for HAs or migraine. We also investigate the pathologically verified group for possible correlations with HAs or migraine. One hundred consecutive patients undergoing presurgical evaluation for pharmacologically intractable partial epilepsy were interviewed. For each HA type, we inquired about lateralization, localization, quality of HA, and results of treatment. RESULTS: Periictal HAs were reported by 47 patients. Of those, 11 had preictal HA (PIHA), and 44 had postictal HA (PostHA). Eight patients had both PIHA and PostHA. Interictal HAs (InterHAs) were reported by 31 patients. Twenty-nine (62%) of 47 patients had frontotemporal HAs. Twenty-five patients had migraine-like HA without aura: 18 (60%) of 30 patients with temporal lobe epilepsy (TLE) and seven (41%) of 17 with extratemporal epilepsy (ETE). No correlation between pathology and presence of HA was found in 59 pathologically verified patients, except in four who had arteriovenous malformations (AVMs): three had and one did not have HAs. Eighteen patients had, in addition, poorly localized and ill-described HSens other than HAs. CONCLUSIONS: We confirm an association between focal epilepsy and HAs, including migraine without aura. This is true for both TLE and ETE. PIHA and even prodromal HA may be related to the epileptic discharge and may have lateralizing value. This association is not recognized by the current International Headache Society (IHS) classification. The presence of HA and migraine is not related to the underlying epileptogenic pathology except in patients with AVMs.

Adolescent↗
PubMed2005

Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.

PURPOSE: Choreoacanthocytosis (ChAc) is an autosomal recessive disorder caused by mutations in VPS13A on chromosome 9q21 and characterized by neurodegeneration and red cell acanthocytosis. Seizures are not uncommon in ChAc but have not been well characterized in the literature. We report two ChAc families in which patients presented with temporal lobe epilepsy. METHODS: Detailed medical and family histories were obtained. EEG, video-telemetry, brain magnetic resonance imaging (MRI) with volumetric studies of amygdala and hippocampus, as well as neuropsychological testing were performed. Blood smears were examined for acanthocytosis. Mutation analysis of VPS13A was carried out in five patients. RESULTS: Six patients in three sibships were initially seen with seizures. Age at seizure onset ranged from 22 to 38 years. Seizures preceded other clinical manifestations of ChAc by < or = 15 years. The epileptic aura consisted of a sensation of déjà-vu, fear, hallucinations, palpitations, or vertigo. EEG with video-telemetry showed epileptiform discharges originating either from one or both temporal lobes. Epilepsy was generally well controlled, but some patients had periods of increased seizure frequency requiring treatment with multiple antiepileptic drugs (AEDs). Both families shared a deletion of exons 70-73 of VPS13A, extending to exons 6-7 of GNA14. CONCLUSIONS: Temporal lobe epilepsy may be the presenting feature of ChAc and may delay its diagnosis. Epilepsy in ChAc patients represents a challenge, because seizures may at times be difficult to control, and some AEDs may worsen the involuntary movements. Mutations in VPS13A or GNA14 or both may be associated with clinical features of temporal lobe epilepsy.

Adult↗
PubMed2005

Long-term outcome after surgical treatment of temporal lobe epilepsy in children.

OBJECT: Surgery is an accepted treatment for carefully selected patients with focal epilepsy. In the present study, the authors assessed clinical and surgery-related data obtained in a large series of children suffering from intractable temporal lobe epilepsy (TLE). METHODS: Etiological, pathological, and clinical features of possible prognostic significance were studied in 109 children who underwent surgery for TLE at the Montreal Neurological Institute and Hospital and the Montreal Children's Hospital between 1985 and 2000. The mean age of patients at seizure onset was 5.5 years and the duration of epilepsy ranged from 0.1 to 17.6 years. Preoperative magnetic resonance imaging revealed mesial sclerosis in 51 patients, a mass lesion in 45, and no visible abnormalities in 12. In six patients invasive monitoring was required. Cortical amygdalohippocampectomy was performed in 72% of patients, whereas 20% underwent transcortical selective amygdalohippocampectomy. In 23 patients a second surgical intervention was necessary. Low-grade tumors were found in 35% and mesial sclerosis was confirmed on pathological evaluation in 45%. Outcome was excellent (seizure free or > 90% reduction) in 94 patients (86%). The patients were followed prospectively for a median of 10.9 years (range 5-20.2 years). There were no permanent neurological complications and no deaths. CONCLUSIONS: Successful postsurgical outcomes, especially in patients treated for mesial temporal lobe sclerosis and lesion-related epilepsies, can be obtained in pediatric patients suffering minimal complications. Unfavorable outcomes are most likely to occur when epileptiform discharges are bitemporal or multifocal in distribution and in cases involving incomplete resection of mesiotemporal structures.

Adolescent↗
PubMed2005

Post-ictal rage and aggression: a video-EEG study.

Post-ictal rage and aggression have been mentioned in the literature but have rarely been documented by video-EEG recording. We studied a patient with dramatic, episodic, seizure-related rage and violence. This mentally retarded man had a lifelong history of seizures. He developed increasing episodic rage and aggression. Caregivers were afraid of him, although there was no record of directed violence. In one of these episodes he fractured his tibia and fibula. Interictal discharges arose from both temporal areas independently. He had focal seizures with secondary generalization. Immediately after cessation of the ictal discharge he became greatly agitated, with undirected aggression, loud screaming, kicking and fighting against the restraints. A video sequence illustrates the behavior. Imaging studies showed bilateral, periventricular, nodular heterotopia in the lateral aspect of both temporal horns and the trigones. Increasingly frequent, severe bursts of rage and aggression were proven to be post-ictal. Documented attacks occurred while he was restrained and this may have been a factor in their severity. Such attacks however, have been described while he was not restrained and these increased in severity and frequency over time. Developmental abnormalities with periventricular, nodular heterotopia in the region of the trigones and inferomesial temporal areas are considered to be causally related to his retardation and epilepsy. [Published with video sequences].

Adult↗
PubMed2005

Tonic status epilepticus in patients with idiopathic generalized epilepsy.

RATIONALE: Tonic status epilepticus (TSE) in patients with idiopathic generalized epilepsy (IGE) is not well recognized. The objective of this study is to report episodes of TSE in patients with IGE. METHODS: We retrospectively reviewed the clinical and EEG evaluation of three IGE patients who presented TSE. RESULTS: The three patients had mainly clinical features of IGE, but had developed, in addition, focal discharges, diffuse EEG abnormalities and some focal or diffuse neuropsychological dysfunction. The tonic attacks eventually responded to treatment, but were not completely controlled in any of the patients. DISCUSSION: The continuum between IGE and secondary generalized epilepsy is demonstrated in these patients. Most of their clinical and EEG features are however, in keeping with an idiopathic generalized epileptic process with additional focal and diffuse components. Recognition of the significance of TSE in such patients has important therapeutic and prognostic implications. [Published with video sequences].

Adult↗
PubMed2004

New-onset seizures after liver transplantation: clinical implications and prognosis in survivors.

PURPOSE: To identify the probable etiologies and characteristics of new-onset seizures after orthotopic liver transplantation (OLT) and to assess their clinical implications and prognosis. METHODS: We retrospectively analyzed the clinical, electrophysiologic and laboratory data of 17 patients with new-onset seizures after OLT among 367 adult and pediatric patients who underwent OLT between 1999 and 2001. RESULTS: A suspected etiology of seizures was identified in most patients, including 6 (35.2%) with neurotoxicity due to immunosuppressive therapy, 4 (23.5%) with cerebrovascular disease, 3 (17.6%) with severe metabolic derangement by sepsis or rejection, and 1 each (5.8%) with hyperglycemia and brain edema due to fulminant hepatic failure. Causative factors could not be identified in 2 patients (11.8%). Seizures recurred in 15 patients (88.2%), with 9 occurring on the same day as the original seizure. Attacks caused by neurotoxicity tended to have an earlier onset, within 1 week in 4 of 6 patients, than those caused by cerebrovascular disease and sepsis/rejection, but this was not statistically significant. A total of 21 EEGs were performed in 13 patients. Eleven patients had abnormal EEG findings, of whom 4 (30.7%) showed epileptiform discharges, but the outcome of patients with epileptiform activity did not differ statistically from that of patients without such discharges (p > 0.6). The incidence of poor outcome (death or persistent vegetative state) in the group with seizures was almost 10 times higher than in the group without seizures (52.9 vs. 5.7%, p < 0.001). The prognosis of patients with seizures due to cerebrovascular disease and severe metabolic derangement by sepsis/rejection was poorer than that of patients with seizures caused by the neurotoxicity of immunosuppressive drugs (p < 0.02), suggesting that the underlying cause of seizures is important in determining prognosis. Of 8 patients who survived, 1 was lost to follow-up. The long-term outcome of seizures in surviving patients was excellent, with all survivors available for follow-up being seizure-free for a mean follow-up of 42.5 months (range, 16-58 months). CONCLUSION: New-onset seizures after OLT may herald fatal outcome, especially in patients with cerebrovascular disease or sepsis. The prognosis of seizures in survivors is excellent, and long-term antiepileptic drugs are not required in most cases.

Adolescent↗
PubMed2004

Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.

Action myoclonus-renal failure syndrome (AMRF) is a distinctive form of progressive myoclonus epilepsy associated with renal dysfunction. The syndrome was not recognized prior to the advent of dialysis and renal transplantation because of its rapidly fatal course if renal failure is untreated. The first and only description of AMRF was in four French Canadian patients in three families (Andermann et al., 1986). We now describe 15 individuals with AMRF from five countries, including a follow-up of the four French Canadian patients, allowing a more complete characterization of this disease. Our 15 patients with AMRF belong to nine different families. Segregation analyses were compatible with autosomal recessive inheritance. In addition, our findings show that AMRF can present with either renal or neurological features. Tremor (onset 17-26 years, mean 19.8 years, median 19 years) and progressively disabling action myoclonus (onset 14-29 years, mean 21.7 years, median 21 years), with infrequent generalized seizures (onset 20-28 years, mean 22.7 years, median 22 years) and cerebellar features are characteristic. Proteinuria, detected between ages 9 and 30 years in all cases, progressed to renal failure in 12 out of 15 patients within 0-8 years after proteinuria detection. Brain autopsy in two patients revealed extraneuronal pigment accumulation. Renal biopsies showed collapsing glomerulopathy, a severe variant of focal glomerulosclerosis. This study extends the AMRF phenotype, and demonstrates a more extensive ethnic and geographic distribution of a syndrome originally believed to be confined to individuals of French Canadian ancestry. The independent progression of neurological and renal disorders in AMRF suggests a unitary molecular lesion with pleiotropic effects. Our results demonstrate that the renal lesion in AMRF is a recessive form of collapsing glomerulopathy. Genes identified for focal segmental glomerulosclerosis and involved with the function of the glomerular basement membrane and related proteins are thus good candidates. Treatment can improve quality of life and extend the lifespan of these patients. Dialysis and renal transplantation are effective for the renal but not the neurological features, which continue to progress even in the presence of normalized renal function; the latter can be managed with anti-myoclonic and anti-epileptic drugs.

Adolescent↗
PubMed2004

Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene.

We report on a Friedreich's ataxia (FA) family with 3 affected siblings with markedly different phenotypic presentations, including one with spastic paraplegia. Molecular analysis showed midsize GAA repeat expansion sizes in all 3 individuals. Gait spasticity in FA, although rare, has been described in a few patients who are compound heterozygotes for a point mutation, or who had GAA expansions of less than 200 repeats. The occurrence of spastic paraplegia in our family, in the presence of homozygous midsize GAA repeat expansions, is an unusual finding. Spasticity can be the main feature in both sporadic and familial patients with FA, either as an isolated finding, or in addition to other neurological abnormalities, and should be included as a rare feature in the clinical spectrum of FA. This family also demonstrates that in FA, marked intrafamilial phenotypic variability can arise in the presence of similar GAA expansion sizes. Therefore, in familial FA, the disease course in relatives therefore cannot be predicted solely from repeat length. Factors such as somatic mosaicism, repeat interruptions, modifying mutations and environmental factors must also be considered.

Adult↗
PubMed2004

Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.

BACKGROUND: Familial partial epilepsy with variable foci (FPEVF) is an autosomal dominant syndrome characterized by partial seizures originating from different brain regions in different family members in the absence of detectable structural abnormalities. A gene for FPEVF was mapped to chromosome 22q12 in two distantly related French-Canadian families. METHODS: We describe the clinical features and performed a linkage analysis in a Spanish kindred and in a third French-Canadian family distantly related to the original pedigrees. RESULTS: Onset of seizures was typically in middle childhood, and attacks were usually easy to control. Seizure semiology varied among family members but was constant for each individual. In some, a pattern of nocturnal frontal lobe seizures led to consideration of the diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). The Spanish family was mapped to chromosome 22q (multipoint lod score, 3.4), and the new French-Canadian family had a multipoint lod score of 2.97 and shared the haplotype of the original French-Canadian families. CONCLUSIONS: Identification of the various forms of familial partial epilepsy is challenging, particularly in small families, in which insufficient individuals exist to identify a specific pattern. We provide clinical guidelines for this task, which will eventually be supplanted by specific molecular diagnosis. We confirmed linkage of FPEVF to chromosome 22q12 and redefined the region to a 5.2-Mb segment of DNA.

Adolescent↗
PubMed2004

Unilateral hippocampal sclerosis with contralateral temporal scalp ictal onset.

PURPOSE: To investigate the clinical characteristics and surgical outcomes in patients with unilateral hippocampal sclerosis whose scalp ictal EEG recordings localize to the opposite temporal lobe. METHODS: We retrospectively reviewed the data of all adult patients who had undergone depth electrode implantation for suspected temporal lobe epilepsy (TLE) at UCLA (1993-2000) or the Montreal Neurological Institute (1991-1998) to identify patients who had (a) unilateral hippocampal atrophy, and (b) surface ictal recordings in which the majority of seizures appeared to initiate in the opposite temporal lobe, with few or none that were concordant with the hippocampal atrophy. RESULTS: Of 109 patients with suspected TLE who underwent depth electrode study at the two centers, five patients met the aforementioned criteria. Four of these five had very severe hippocampal atrophy, whereas the fifth had mild atrophy but extensive signal change on magnetic resonance imaging (MRI). Depth electrode recordings in four of the five patients yielded clear ictal onset in the mesial temporal lobe ipsilateral to the imaging abnormality (contralateral to apparent scalp ictal onset). One patient had an unusual bitemporal onset pattern, which was nonetheless suggestive of onset in the sclerotic hippocampus. No patient had intracranial ictal onset contralateral to the imaging abnormality. All patients underwent resection of the structurally abnormal temporal lobe. After follow-up of > or = 2 years, four (80%) of five patients were seizure free, while the fifth showed lesser improvement (class III). CONCLUSIONS: Some patients with severe hippocampal sclerosis (sometimes called a "burned-out hippocampus") have atypical spread of ictal discharges, resulting in apparent gross discordance between imaging and scalp ictal recordings. These patients nonetheless have excellent surgical outcomes on the whole. Whether such patients may forego intracranial recordings requires further study.

Adult↗
PubMed2004

Patients with temporoparietal ictal symptoms and inferomesial EEG do not benefit from anterior temporal resection.

PURPOSE: The role of posterior structural lesions leading to inadequate results after inferomesial temporal resection is well recognized. Here we present poor surgical outcome in six patients with nonlesional intractable epilepsy, well-defined focal anterior and inferomesial temporal epileptic discharges, and posterior temporoparietal symptoms. METHODS: We reviewed patient data including scalp video-EEG telemetry, intracranial EEG recording, magnetic resonance imaging (MRI) sequences (1.5 Tesla), and single-photon emission computed tomography (SPECT) findings. RESULTS: Ictal onset was uni- or bilateral diffuse with late preponderance over one temporal, or centrotemporoparietal regions. Four patients had preresection intracranial EEG monitoring, which suggested an epileptogenic zone in the posterior temporal and inferior parietal area in two, in the temporal lobe in one, and was inconclusive in the remaining one, who showed late epileptiform activity in the temporal neocortex. A second intracranial implantation was performed in three of them after a first anterior temporal resection. This led to posterior temporal neocortical localization in two and posterior temporal-inferior parietal localization in one. Including subpial transection, these six patients had one to four operations each, but only limited improvement occurred as a result of surgery in this group of individuals. CONCLUSIONS: We conclude that anterior and inferomesial interictal epileptiform temporal discharges and at times even intracranial EEG monitoring may be misleading. Anteromesial temporal resection is ineffective in patients with posterior temporoparietal clinical ictal features.

Adult↗
PubMed2004

Palliative temporal resection for the treatment of intractable bioccipital epilepsy.

RATIONALE: Temporal resection is usually ineffective in patients with occipital seizures. However, when seizures are unilateral occipital resections are now, occasionally, considered. When bilateral seizures and visual field defects exist, occipital resection can not be carried out. When predominantly lateralized, temporal seizure onset can be shown in such patients, palliative temporal resection may be justified. METHODS: We report two patients with medically refractory, bilateral occipital lobe seizures. Clinical and electrophysiological patterns suggested consistent spread of the ictal discharge to temporal lobe structures. Long-term EEG video monitoring was followed by stereoelectroencephalography (SEEG) to assess involvement of temporal and occipital regions symmetrically. RESULTS: Both patients had non-lateralized, elementary visual aura followed by loss of contact, automatisms, frequent falls and occasionally secondary generalization. Brain MR imaging revealed bilateral parieto-occipital ischemic lesions without concomitant temporal volumetric abnormalities. They had bilateral or unilateral visual field defects. Scalp EEGs showed bilateral temporal or temporo-parieto-occipital interictal and ictal epileptic abnormalities. Intracranial SEEG recordings confirmed the presence of multifocal, temporo-occipital epileptic abnormalities. In both however, disabling seizures originated in, or rapidly spread to the right hippocampus. Since occipital resections were inadvisable, both patients underwent selective, right amygdalohippocampectomy. Seizures continued in both (two-year follow-up), but were much less severe, not associated with falling or secondary generalization, not followed by fatigue or headache and with faster recovery. CONCLUSION: When occipital resection is inadvisable because of bilateral or diffuse visual problems, palliative temporal resection may be considered in patients with lesional, bilateral occipital lobe epilepsy, and rapid seizure spread to mesial temporal structures. (Published with videosequences).

Adult↗