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S F Berkovic

Publications and source records attributed to S F Berkovic.

At least 199 records · Page 11Linked to original sources
PubMed1991

Progressive myoclonus epilepsies: clinical and neurophysiological diagnosis.

Diagnosis and management of the progressive myoclonus epilepsies (PMEs) provides a challenge to the clinician and neurophysiologist. Over 15 specific disorders can cause the PME syndrome; all are rare, and individual physicians are unlikely to have experience in all of them. Accurate diagnosis is essential to provide a prognosis, optimal therapy, and genetic counseling. The major causes are PME of the Unverricht-Lundborg type, Lafora disease, neuronal ceroid lipofuscinoses (three forms), MERRF (myoclonus epilepsy and ragged red fibers), and sialidoses (two forms), in addition to a number of even rarer disorders. Here we review the clinical aspects and neurophysiology of these disorders, which can now be diagnosed in life by relatively simple methods in the vast majority of cases.

Electroencephalography↗
PubMed1991

Magnetic resonance imaging of hypothalamic hamartomas causing gelastic epilepsy.

Hypothalamic hamartomas may cause a peculiar epileptic syndrome characterized by seizures of laughter and precocious puberty. Four mentally handicapped patients suffering from gelastic epilepsy were referred to our institution for investigation; three of them also presented with precocious puberty. In all four cases magnetic resonance imaging (MRI) revealed a space-occupying lesion of the hypothalamus that was considered to be a hamartoma. Biopsies were not performed. Hamartomas appear isodense in plain computed tomography scans, and they do not enhance. Such lesions display an isointense signal in T1-weighted magnetic resonance images and a hyperintense signal in proton density and T2-weighted images. MRI is the procedure of choice for detecting such lesions at the base of the brain.

Adolescent↗
PubMed1991

The stroke syndrome of striatocapsular infarction.

Striatocapsular infarction has recently been described as a distinct stroke entity and forms an important subgroup of subcortical infarctions. In a prospective study of 50 consecutive patients over a 10 yr period with this syndrome, clinical and neuropsychological features, pathogenesis and outcome were studied to provide information concerning management and prognosis. The most common clinical presentation was that of a stroke affecting mainly the upper limb with cortical signs such as dysphasia, neglect or dyspraxia. Evidence from EEG, angiographic and neuropsychological data supported a vascular/haemodynamic basis for the presence of the acute neuropsychological changes, while the chronic changes were more likely to be due to diaschisis. A study of risk factors and cerebral angiography enabled 4 pathophysiological subgroups to be identified: (1) cardiac emboli to the origin of the middle cerebral artery; (2) severe extra-cranial cranial carotid artery occlusive disease with presumed embolism to the same site and/or involvement of haemodynamic factors; (3) proximal middle cerebral artery abnormalities causing occlusion of multiple lateral striate arteries at their origins; (4) normal angiography where pathogenesis was uncertain. The risk factors of cardiac disease and smoking were significantly increased as compared with age and sex-matched controls with other forms of ischaemic stroke. Stroke or vascular death rate was 2.7% per yr during a mean follow-up period of 2.25 yrs. Predictors of an excellent recovery with return to normal lifestyle were younger age, only brachial or brachiofacial weakness with absence of cortical signs at presentation and minimal change on angiography. This stroke entity deserves particular recognition in the spectrum of subcortical infarctions because of its specific pathogenesis, distinct neuropsychological features and reasonable prognosis.

Cerebral Angiography↗
PubMed1990

Hippocampal sclerosis can be reliably detected by magnetic resonance imaging.

Two independent blinded observers reported the preoperative MRIs in a series of 81 consecutive patients with intractable temporal lobe epilepsy who were undergoing temporal lobectomy. We then compared the nature and lateralization of the MRI abnormalities with the pathologic diagnosis and the side of lobectomy. The MRI criteria of hippocampal sclerosis were an increased T2-weighted signal and the signal's confinement to a unilaterally small hippocampus. Imaging was performed in coronal and axial planes, specially orientated along and perpendicular to the long axis of the hippocampal body. We found diagnostic MRI abnormalities in 25 of the 27 cases with pathologically proven hippocampal sclerosis (sensitivity 93%, specificity 86%). In addition, we detected all 13 foreign tissue lesions on MRI. Overall, we detected lateralized lesions on MRI that correctly predicted the side of the epileptogenic temporal lobe in 72 cases (89%), with 2 possible errors. A learning effect in appreciating the relatively subtle MRI changes of hippocampal sclerosis was apparent in our later cases, as shown by an improved correlation between the 2 observers. This study demonstrates that hippocampal sclerosis can be identified on MRI with a high degree of sensitivity and specificity.

Brain Neoplasms↗
PubMed1989

Limbic P3 potentials, seizure localization, and surgical pathology in temporal lobe epilepsy.

Limbic P3 event-related potentials were recorded from mesial temporal electrodes implanted for presurgical investigation in 70 patients with intractable focal seizures. In 46 (81%) of 57 patients with unilateral temporal lobe epilepsy, the limbic P3 potential was absent or rudimentary ipsilateral to the seizure focus and a robust P3 potential was always elicited from the nonepileptogenic temporal lobe. Bilateral P3 potentials were recorded in 6 patients (10%) with unilateral temporal lobe epilepsy. In the remaining 5 patients in the group with unilateral temporal lobe epilepsy, results showed P3 bilaterally absent (2 patients), P3 present in a unilateral investigation (1 patient), P3 absent contralateral to the seizure focus (1 patient), and technically unsatisfactory recordings (1 patient). Bilaterally absent P3 potentials were noted in 2 patients with bilateral temporal lobe epilepsy. In 6 patients with technically adequate P3 studies and extratemporal seizures, bilaterally present P3 potentials were noted. Sensitivity and specificity of P3 absence as a predictor of an epileptogenic temporal lobe were 87% and 95%, respectively. Tissue specimens of the hippocampus were available in 22 patients (43%). Thirteen hippocampi showed sclerosis, all of which were associated with unilaterally absent P3 potentials. Nine hippocampi were normal (5 patients with the P3 absent, 4 with P3 present). Sensitivity and specificity of an absent limbic P3 as a function of hippocampal pathological findings were 100% and 44%, respectively. Absent limbic P3 potentials in temporal lobe epilepsy thus indicate structural or functional hippocampal abnormality and may add important information in presurgical evaluation with depth electrodes of patients who have temporal lobe epilepsy.

Adolescent↗
PubMed1989

Localization of epileptic foci with postictal single photon emission computed tomography.

Effective surgical treatment of patients with intractable complex partial seizures depends on accurate preoperative seizure focus localization. We evaluated seizure localization with interictal and immediate postictal single photon emission computed tomographic images of cerebral perfusion using technetium-99m-hexamethyl-propyleneamineoxime (99mTc-HMPAO) in comparison with conventional ictal electroencephalographic (EEG) localization. Thirty-two patients with intractable complex partial seizures were studied. The mean delay from seizure onset to injection was 6.3 +/- 5.3 (SD) minutes. Independent blinded observers assessed the scans for interictal hypoperfusion and postictal focal hyperperfusion. Interictal scans alone were unreliable, indicating the correct localization in 17 patients (53%) and an incorrect site in 3 (9%). When interictal and postictal scans were interpreted together, the focus was correctly localized in 23 patients (72%). There was 1 false-positive study, and 8 patients had inconclusive changes, including 2 with inconclusive depth EEG studies. Postictal hyperperfusion was predominantly mesial temporal and frequently associated with hypoperfusion of lateral temporal cortex. Secondarily generalized seizures tended to show focal hyperperfusion less often than complex partial seizures did (Fisher's exact test p = 0.09). Combined interictal and immediate postictal single photon emission computed tomography with 99mTc-HMPAO is a useful noninvasive technique for independent confirmation of electrographic seizure localization. It may provide a suitable alternative to the use of depth electrode studies for confirmation of surface EEG findings in many patients with complex partial seizures.

Adolescent↗
PubMed1989

Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study.

Thirteen patients, including 6 from one family, with the syndrome of myoclonus epilepsy and ragged-red fibres (MERRF) were studied. There was considerable heterogeneity in the age of onset, severity and associated clinical features. Postmortem studies in 3 patients from the one family showed a particular system degeneration. In addition, the youngest and most severely affected family member showed the pathological changes of Leigh's syndrome. Cortical dysfunction is a prominent clinical feature in MERRF, but postmortem examination failed to reveal cortical abnormalities. Positron emission tomographic studies, however, showed decreased cortical metabolic rates for glucose and oxygen utilization, with normal cortical blood flow and cerebral pH. Analyses of kinetic rate constants for uptake and phosphorylation of the glucose analogue, fluorodeoxyglucose showed decreased hexokinase-mediated phosphorylation: normal K1 and k2 values but reduced k3. Phosphorus magnetic resonance spectroscopy studies suggested a normal cerebral intracellular pH. Biochemical studies on muscle homogenates in 6 patients showed partial deficiencies of the activities of certain mitochondrial enzymes in 4 cases, whereas in 2 patients no abnormality was found. Our data, combined with previous reports, show that MERRF is biochemically and genetically heterogeneous. Our experience, and analysis of the literature, suggests that many cases previously described as the Ramsay Hunt syndrome, as well as other hitherto unclassified system degenerations associated with myoclonus epilepsy, are examples of MERRF. These data permit the formulation of a hypothesis to explain the clinical, biochemical and genetic heterogeneity of MERRF, and its overlap with Leigh's syndrome. We suggest that different biochemical defects of the mitochondrial respiratory chain may cause similar cerebral metabolic effects, as measured by positron emission tomography, resulting in similar phenotypes. Reduced activity of one enzyme, however, may result in different phenotypes, depending on the severity of the defect and its tissue distribution. Moreover, the phenotypic expression of certain biochemical defects may be influenced by randomly occurring factors such as fever, which may increase metabolic demand and result in more deleterious cellular metabolic effects.

Adolescent↗
PubMed1989

Valproate prevents the recurrence of absence status.

We assessed the value of valproate in the prevention of recurrent attacks of absence status in 25 patients. Eighteen patients had primary generalized epilepsy with a mean frequency of attacks of absence status of 5.7 per year. After a mean follow-up period of 4.4 years, the attack frequency was reduced to 0.6 per year (p less than 0.0005); 14 patients had no recurrence, 3 had rare attacks with noncompliance, and 1 had an incomplete response probably due to gastrointestinal intolerance. Patients with evidence of generalized cerebral damage (n = 2) or with EEG evidence of focalization (n = 5) did not respond as favorably. Valproate is the drug of choice for the prevention of recurrence of absence status. Moreover, the response can be predicted on the basis of the electroclinical subtype of absence status.

Adolescent↗
PubMed1988

The electroencephalogram and acute ischemic stroke. Distinguishing cortical from lacunar infarction.

One hundred consecutive cases of clinically diagnosed, acute forebrain infarction were studied using computerized tomography (CT) and electroencephalography (EEG). Computed tomography confirmed brain infarction in 91 patients and was normal in the remaining nine. Each EEG was read independently by two experienced electroencephalographers without knowledge of CT or clinical details and their findings were compared with those of CT. Lateralized theta and/or delta activity predicted ipsilateral cortical infarction with a sensitivity of 76% and specificity of 82%. In contrast, cerebral hemisphere lacunae produced similar EEG abnormalities in only a few cases (9%). Electroencephalography is particularly useful following stroke if the initial CT excludes hemorrhage but does not detect infarction. In conjunction with clinical details, the EEG can then be used to indicate the likelihood of cortical involvement and thus suggest the likely pathophysiologic mechanism of infarction.

Acute Disease↗
PubMed1988

Kufs disease: clinical features and forms.

In patients with an acceptable pathological diagnosis of Kufs disease, two major forms have been identified: Type A presenting as progressive myoclonus epilepsy around the age of 30, and Type B presenting in the same age range with dementia as well as cerebellar and/or extra-pyramidal signs. In adolescence, two subgroups of neuronal ceroid-lipofuscinosis (NCL) emerge. The first group consists of patients resembling either type A or B Kufs disease, but with earlier onset (20% of all cases). These must be distinguished from the second group of rare patients with protracted juvenile NCL presenting with early and prominent visual failure. Although Kufs disease is rare, diagnosis during life should now be possible. The advantages, techniques, and pitfalls of biopsy diagnosis are presented by Carpenter et al. [1988]. We believe that delineation of these two clinical syndromes should aid in the identification of other possible cases of Kufs disease, leading to appropriate pathological examinations to confirm the diagnosis. Knowledge of whether this clinical distinction is biologically meaningful must await the discovery of the more fundamental biochemical defects.

Adolescent↗
PubMed1988

The Newfoundland aggregate of neuronal ceroid-lipofuscinosis.

We have found a group of individuals with the late infantile, the early juvenile variant, and juvenile neuronal ceroid-lipofuscinosis (NCL) in Newfoundland, an island with a population of 500,000. In the past 25 yr, we have ascertained 44 cases of NCL in 32 sibships: 32 cases of late infantile NCL (LINCL) in 24 sibships, 11 cases of the early juvenile variant in 7 sibships, and one patient with the juvenile form (JNCL). The clinical presentation of the LINCL patients is very characteristic, with onset of seizures at age 2 1/2 to 3 1/2 yr, frequently with drop attacks and myoclonic jerks, followed by mental deterioration, ataxia, visual loss, and death by the end of the first decade. Typical curvilinear profiles are seen on electron microscopy (EM). The second group of patients mainly have the early juvenile variant with onset of seizures at age 5 to 6 yr and fingerprint profiles with occasional curvilinear profiles on EM. However, a child with the juvenile form presenting with blindness was also encountered. In both of these types, death occurs in the second decade of life. There is no overlap of these three clinical forms within sibships, although both late infantile and early juvenile variant types may occur in the same small fishing village. All three forms appear to be inherited as autosomal recessive traits. Although the early juvenile variant has been postulated to represent a double heterozygote between LINCL and JNCL, this cannot be confirmed on the basis of the present study.(ABSTRACT TRUNCATED AT 250 WORDS)

Child, Preschool↗
PubMed1988

Hypothalamic hamartomas and ictal laughter: evolution of a characteristic epileptic syndrome and diagnostic value of magnetic resonance imaging.

Detailed study of 4 patients and review of the literature allowed us to delineate further the epileptic syndrome associated with hypothalamic hamartomas, which characteristically begins in infancy with laughing seizures. Because early childhood psychomotor development is usually normal, the condition appears benign and may not even be recognized. The episodes of laughter are brief, frequent, and mechanical in nature. These features distinguish it from other forms of epileptic laughter, particularly that which occurs in temporal lobe epilepsy. Subsequently, the seizures become longer, other seizure types appear, and between the ages of 4 and 10 years, the clinical and electroencephalographic features of secondary generalized epilepsy develop. Cognitive deterioration occurs and severe behavior problems are frequent. Prognosis for seizure control and social adjustment is poor. Cortical abnormality occurs in association with the hypothalamic hamartoma. The lesions are best detected by magnetic resonance imaging but may be difficult to identify by computed tomographic scanning.

Adolescent↗
PubMed1988

Kufs' disease: a critical reappraisal.

A review of 118 cases published as Kufs' disease revealed only 50 cases, including 2 patients described herein, that fulfilled our criteria for this diagnosis. Of the other 68 cases, 16 had inadequate data for analysis, 21 had evidence of a storage disease other than Kufs' disease, 10 did not have clear evidence of any neuronal storage, and 21 had atypical clinical features considered outside the spectrum of Kufs' disease. The 50 cases accepted as Kufs' disease comprised two clinical phenotypes; progressive myoclonus epilepsy (Type A) and dementia with motor disturbances (Type B). Marked photosensitivity was a striking feature of some Type A cases, and facial dyskinesias were common amongst Type B patients. Onset was typically at around the age of 30 years. A few cases began in adolescence; these differ from the protracted juvenile form of neuronal ceroid-lipofuscinosis by the absence of visual failure. Demonstration of fingerprint profiles or granular osmiophilic deposits by electron microscopy is mandatory for definitive diagnosis. Urinary sediment dolichol levels were markedly elevated in our 2 cases. This biochemical finding confirms the relationship of Kufs' disease to the early forms of neuronal ceroid-lipofuscinosis and is consistent with our hypothesis that these diseases are due to defects in the intracellular processing of lysosomal and related membranes.

Adult↗
PubMed1987

Progressive dystonia with bilateral putaminal hypodensities.

Three unrelated patients, aged 4, 18, and 47 years, had generalized dystonia associated with bilateral striatal hypodensities on computed tomography. Mitochondrial encephalopathy was considered to be the most likely diagnosis, but this could not be proved. These patients confirm previous reports linking acquired generalized dystonia with bilateral putaminal lesions and they highlight the problem in differential diagnosis of this clinicoradiologic syndrome.

Adolescent↗
PubMed1987

Concepts of absence epilepsies: discrete syndromes or biological continuum?

There are two current approaches to the clinical conceptualization of the generalized epilepsies. The syndromic approach attempts to subdivide the patient population into relatively homogeneous groups, largely on the basis of clinical and EEG criteria. In contrast, the neurobiological approach aims to formulate a unique profile for each patient by incorporating particulars of the patient onto the background of knowledge regarding the etiologic factors important in generalized epilepsy. The value of these two approaches is discussed with regard to the dual aims of, first, improving the understanding of generalized epilepsy, and second, providing a precise diagnosis, an accurate prognosis, and optimal treatment for the patient.

Adolescent↗