Biomedical subjects

Hadassa Goldberg-Stern

Publications and source records attributed to Hadassa Goldberg-Stern.

7 recordsLinked to original sources

PubMed2005

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.

Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene (GPR56) associated with an apparently distinctive phenotype, termed bilateral frontoparietal polymicrogyria (BFPP). To define the range of abnormalities that could be caused by human GPR56 mutations and to establish diagnostic criteria for BFPP, we analyzed the GPR56 gene in a cohort of 29 patients with typical BFPP. We identified homozygous GPR56 mutations in all 29 patients with typical BFPP. The total of 11 GPR56 mutations found represented a variety of distinct founder mutations in various populations throughout the world. In addition, we analyzed five patients with BFPP who did not show GPR56 mutation and found that they define a clinically, radiographically, and genetically distinct syndrome that we termed BFPP2. Finally, we studied seven patients with a variety of other polymicrogyria syndromes including bilateral frontal polymicrogyria, bilateral perisylvian polymicrogyria, and bilateral generalized polymicrogyria. No GPR56 mutation was found in these patients. This study provides a molecular confirmation of the BFPP phenotype and provides the wherewithal for diagnostic screening.

Adolescent↗

PubMed2005

Autoimmune epilepsy: distinct subpopulations of epilepsy patients harbor serum autoantibodies to either glutamate/AMPA receptor GluR3, glutamate/NMDA receptor subunit NR2A or double-stranded DNA.

We studied 82 patients with different types of epilepsy and 49 neurologically intact non-epileptic controls, and identified three different subpopulations of epilepsy patients bearing significantly elevated levels of autoantibodies to either GluR3B-peptide of glutamate/AMPA receptor subtype 3 (17/82; 21% of patients), or to a peptide of NR2A subunit of glutamate/NMDA receptors (15/82; 18%), or to double-stranded (ds) DNA, the hallmark of systemic lupus erythematosus (13/80; 16%). Most patients had only one antibody type, arguing against cross-reactivity. Nearly all anti-dsDNA Ab-positive patients did not harbor anti-nuclear autoantibodies. Most patients had no history of brain damage, febrile convulsions, early onset epilepsy, acute epilepsy or intractable seizures. We suggest to measure the 'autoimmune-fingerprints' of epilepsy patients for diagnostic and therapeutic purposes.

Adolescent↗

PubMed2005

The effect of age and structural lesions on postictal language impairment.

The duration of postictal language dysfunction following a temporal lobe complex partial seizure (TLCPS) is longer when the seizure originates in the dominant hemisphere. However, the effects of older age and the presence of a structural lesion ipsilateral to the area of origin of the seizure remain unknown. Postictal language delay (PILD) was analyzed in relation to age and presence of a structural lesion in 47 patients, 28 with dominant TLCPSs and 19 with nondominant TLCPSs (total 173 seizures). Mean ages of the groups were 32.5 years (range: 16-68) and 36.1 years (range: 21-50), respectively. Nonsclerotic structural lesions were found by magnetic resonance imaging in 13 patients, eight with seizures in the dominant hemisphere and five with seizures in the nondominant hemisphere. Age did not affect PILD regardless of the lateralization of the seizures. The presence of a structural lesion significantly prolonged PILD only in the patients with nondominant TLCPS (p = 0.019). In conclusion, the anatomical site of seizure onset may not be the only determinant of the nature of the postictal state. PILD can provide important information on seizure localization and spread.

Adolescent↗

PubMed2005

Severe refractory status epilepticus owing to presumed encephalitis.

The severe refractory type of status epilepticus is very rare in the pediatric population. Eight children with the severe refractory type of status epilepticus owing to presumed encephalitis are described. The age at the onset of status epilepticus of the eight study children ranged between 2.5 and 15 years. Seven of the eight children presented with fever several days prior to the onset of seizures. A comprehensive clinical and laboratory investigation failed to delineate a cause for their seizures. Burst suppression coma was induced by pentothal, midazolam, propofol, or ketamine in all of the children. The mean duration of anesthesia was 28 days (range 4-62 days), but the seizures persisted in spite of repeated burst suppression cycles in all of them. Two children died. Four of the surviving children continued to suffer from seizures, and cognitive sequelae were present throughout follow-up in four children. In summary, the severe refractory type of status epilepticus of the acute symptomatic type owing to relatively mild encephalitis carries a high mortality rate and poor morbidity in terms of seizures and cognition at follow-up.

Adolescent↗

PubMed2004

Language dysfunction after frontal lobe partial seizures.

Postictal language delay (PILD) patterns can lateralize temporal lobe complex partial seizures (CPS). The authors studied PILD in 24 patients with 118 frontal lobe CPS. Prolonged PILD occurred in only 7% of CPS confined to the dominant frontal lobe compared with 91% of CPS that started as frontal and spread to the dominant temporal lobe (p = 0.0001). Postictal language testing provides important information on frontal CPS localization and spread.

Adolescent↗

PubMed2004

Ictus emeticus (ictal vomiting).

Vomiting is rarely the main ictal manifestation of epilepsy, and it is likely associated with more than one type of epilepsy. Its possible mechanism involves the spread of abnormal electrical activity through descending insular or limbic circuits. This report describes a child with difficult-to-control ictal vomiting arising from a left temporal epileptic focus. Ictus emeticus is a specific epileptic presentation which can have a chronic, intractable nature requiring repetitive therapeutic trials with antiepileptic medications. In the patient described here, the disease posed a diagnostic dilemma in its early stages. The ictal electroencephalogram is crucial for the diagnosis.

Child↗

PubMedDate not supplied

Autoimmune epilepsy: some epilepsy patients harbor autoantibodies to glutamate receptors and dsDNA on both sides of the blood-brain barrier, which may kill neurons and decrease in brain fluids after hemispherotomy.

PURPOSE: Elucidating the potential contribution of specific autoantibodies (Ab's) to the etiology and/or pathology of some human epilepsies. METHODS: Six epilepsy patients with Rasmussen's encephalitis (RE) and 71 patients with other epilepsies were tested for Ab's to the "B" peptide (amino acids 372-395) of the glutamate/AMPA subtype 3 receptor (GluR3B peptide), double-stranded DNA (dsDNA), and additional autoimmune disease-associated autoantigens, and for the ability of their serum and cerebrospinal-fluid (CSF) to kill neurons. RESULTS: Elevated anti-GluR3B Ab' s were found in serum and CSF of most RE patients, and in serum of 17/71 (24%) patients with other epilepsies. In two RE patients, anti-GluR3B Ab's decreased drastically in CSF following functional-hemispherotomy, in association with seizure cessation and neurological improvement. Serum and CSF of two RE patients, and serum of 12/71 (17%) patients with other epilepsies, contained elevated anti-dsDNA Ab's, the hallmark of systemic-lupus-erythematosus. The sera (but not the CSF) of some RE patients contained also clinically elevated levels of "classical" autoimmune Ab's to glutamic-acid-decarboxylase, cardiolipin, beta2-glycoprotein-I and nuclear-antigens SS-A and RNP-70. Sera and CSF of some RE patients caused substantial death of hippocampal neurons. CONCLUSIONS: Some epilepsy patients harbor Ab's to GluR3 and dsDNA on both sides of the blood-brain barrier, and additional autoimmune Ab's only in serum. Since all these Ab's may be detrimental to the nervous system and/or peripheral organs, we recommend testing for their presence in epilepsy, and silencing their activity in Ab-positive patients.

Adolescent↗