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Biomedical subjects

H Goldberg-Stern

Publications and source records attributed to H Goldberg-Stern.

15 recordsLinked to original sources
PubMed2005

Antibodies to glutamate receptor subtype 3 (GluR3) are found in some patients suffering from epilepsy as the main disease, but not in patients whose epilepsy accompanies antiphospholipid syndrome or Sneddon's syndrome.

Autoantibodies (Ab's) to the "B" peptide (amino acids 372-395) of glutamate/AMPA receptor subtype 3 (GluR3) are found in serum and cerebrospinal fluid of some patients with different types of epilepsy. Since such anti-GluR3B Ab's can activate and/or kill neurons in vitro and in vivo, they may contribute to epilepsy. To investigate whether anti-GluR3B Ab's may also be relevant to epilepsy when it accompanies some autoimmune-diseases, we tested for these Ab's in patients suffering from epilepsy that accompanies anti-phospholipid syndrome (APS) or Sneddon's syndrome (SNS), both being autoimmune-diseases with frequent neurological complications. We tested 77 pediatric patients whose epilepsy is their main disease; 31 adult patients whose epilepsy accompanies APS (primary or SLE-associated) or SNS; 45 epilepsy-free APS and SNS patients; and 90 healthy controls. Compared to the controls, significantly elevated anti-GluR3B Ab's were found in 22/77 (29%) patients whose epilepsy is their main disease, but in none of the patients whose seizures accompany APS or SNS. Yet, all the APS and SNS patients harbored the characteristic anti-phospholipid Ab's (aPL), directed against cardiolipin and beta2-glycoprotein I, and had lupus anti-coagulant. Thus, anti-GluR3B Ab's are not crossreactive with aPL, and not produced as a non-specific consequence of seizures on the one hand, or autoimmune-diseases on the other. Taken together with new findings accumulated recently in our lab, we suggest that anti-GluR3B Ab's are produced primarily in the periphery due to specific/non-specific "irritation" of the immune system, and that once they reach the brain via a leaky blood-brain barrier they may cause neuronal/glial damage and facilitate the outburst of epilepsy and additional neurological abnormalities. In contrast, the presence of anti-GluR3B Ab's does not seem to increase the probability of developing APS, SNS or the seizures that often accompany these autoimmune-diseases. These findings may have important diagnostic and therapeutic implications.

Adolescent↗
PubMed2001

Seizure frequency and characteristics in children with Down syndrome.

Seizures have not historically been considered a major component of Down syndrome. We examined the prevalence of epileptic seizures in 350 children and adolescents with Down syndrome evaluated at a regional center between 1985 and 1997. Results showed that 28 patients (8%) had epileptic seizures: 13 (47%) partial seizures; 9 (32%) infantile spasms, and 6 (21%) generalized tonic-clonic seizures. In the infantile spasm group, there was no relationship between the initial electroencephalogram (EEG) pattern and response to treatment or long-term seizure control, or between type of pharmacologic treatment (valproic acid, adrenocorticotropic hormone or both) and clinical remission, EEG normalization or long-term seizure control. Neurodevelopmental outcome was poor despite good seizure control in the infantile spasm group. This regional study reinforces the relative association of seizures and Down syndrome. A prospective study including a national/international registry with emphasis on developmental assessment and long-term follow up is warranted.

Adolescent↗
PubMed1997

Parry-Romberg syndrome: follow-up imaging during suppressive therapy.

Parry-Romberg syndrome is a poorly--understood disorder characterized by progressive hemifacial atrophy involving the skin, soft tissue, and bone. Involvement of the central nervous system with impairment in neurologic function occurs infrequently. We describe a child with this syndrome in whom central nervous system involvement, documented on serial MRI, played a prominent role. We have attempted to correlate the clinical course with the radiologic findings, and to determine the impact of prednisone and methotrexate on the intracranial lesions.

Brain↗
PubMed1996

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.

A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with liability to pressure palsies (HNPP) was established to estimate the duplication and deletion frequency, respectively, on chromosome 17p11.2 and to make an inventory of mutations in the myelin genes, peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and connexin 32 (Cx32) located on chromosomes 17p11.2, 1q21-q23 and Xq13.1, respectively. In 70.7% of 819 unrelated CMT1 patients, the 17p11.2 duplication was present. In 84.0% of 156 unrelated HNPP patients, the 17p11.2 deletion was present. In the nonduplicated CMT1 patients, several different mutations were identified in the myelin genes PMP22, MPZ and Cx32.

Charcot-Marie-Tooth Disease↗
PubMed1995

Progressive spinocerebellar degeneration "plus" associated with Langerhans cell histiocytosis: a new paraneoplastic syndrome?

Langerhans cell histiocytosis (LCH), formerly known as histiocytosis-X, manifests by granulomatous lesions consisting of mixed histiocytic and eosinophilic cells. The hallmark of LCH invasion into the CNS is diabetes insipidus, reflecting local infiltration of Langerhans cells into the posterior pituitary or hypothalumus. In five patients who had early onset LCH with no evidence of direct invasion into the CNS, slowly progressive spinocerebellar degeneration accompanied in some by pseudobulbar palsy and intellectual decline was seen. Neurological impairment started 2.5 to seven years after the detection of LCH. No correlation was found between the clinical syndrome and location of LCH or its mode of treatment. An extensive search for metabolic, toxic, neoplastic, and hereditary aetiologies for progressive cerebellar degeneration was negative. It seems that the clinical entity described here may be considered a new paraneoplastic syndrome related to LCH. It may be induced by the eosinophil derived neurotoxin, which was shown to cause damage to Purkinje cells and pyramidal neurons.

Adult↗
PubMed1994

Machado-Joseph (Azorean) disease in a Yemenite Jewish family in Israel.

Machado-Joseph disease (MJD), an autosomal dominant, progressive, multisystem degeneration with cerebellar ataxia as the cardinal manifestation, usually affects individuals of Portuguese ancestry from the Azorean Islands. Cases have been reported in families from Japan, India, China, Brazil, and Australia. We report the first Israeli Jewish family with MJD, originating from a remote village near Ta'izz in Yemen.

Adult↗
PubMed1993

Detection and measurement of an endogenous clonidine-displacing substance in human cerebrospinal fluid.

Clonidine-displacing substance (CDS) is a novel endogenous ligand for clonidine receptors previously detected in bovine brain and human serum. We examined for the first time whether CDS can be detected and measured in human cerebrospinal fluid (CSF). Using the [3H]clonidine displacement assay, we found that CDS could be identified and quantified in each of the CSF samples obtained from 81 patients with various neurological disorders. Mean level of CDS in CSF was 4.66 units/ml. Exceedingly high levels were observed in the CSF of patients with neoplastic meningitis (mean, 36.75 units/ml) and stroke (mean, 19.5 units/ml) (P < 0.0001). No correlation was found between CDS levels in CSF and age, gender, CSF protein or number of cells. CDS levels in CSF were higher than those in the serum (P < 0.01). We conclude that CDS is present and can be measured in human CSF. High CDS levels in CSF from patients with leptomeningeal metastases may serve as a tumor marker for malignant infiltration of the meninges. Additional studies in stroke patients will determine whether this endogenous ligand plays a role in the pathogenesis of cerebral ischemia.

Adolescent↗
PubMed1991

The prognostic significance of glial fibrillary acidic protein staining in medulloblastoma.

Histologic and immunohistochemical properties of 53 medulloblastomas were analyzed with regard to clinical features and survival rate. No correlation was found between survival rate and histologic features of the tumor, such as desmoplastic reaction, number of mitoses, hemorrhages, necrosis, endothelial proliferation, glomerular arrangement, calcifications, rosettes, or oligodendroglial cells. However 82% of the patients with positive glial fibrillary acidic protein (GFAP) staining in numerous tumor cells survived more than 5 years; only 30% survived that long if their tumor cells were GFAP negative (P = 0.0093). This significant difference was not related to the mode of therapeutic protocol used. The authors suggest that GFAP staining may be a useful prognostic tool in medulloblastoma.

Adolescent↗