D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis.

All mutations in the SOD1 gene associated with familial ALS behave as dominant traits. One mutation, however, giving rise to an aspartic acid to alanine substitution in codon 90 (D90A), was reported only to induce motor neuron disease in homozygous individuals in the Scandinavian population. We describe two families with ALS and one apparently sporadic ALS patient who are heterozygous for the D90A mutation.

Lymphocytic infundibulohypophysitis presenting in the postpartum period: case report.

Background: Lymphocytic adenohypophysitis is a well-known autoimmune disorder affecting the anterior pituitary gland. Posterior pituitary gland function can be impaired by a similar autoimmune disorder called lymphocytic infundibulohypophysitis. Only very few cases have been reported.

Pathological findings in a patient with amyotrophic lateral sclerosis and multifocal motor neuropathy with conduction block.

We studied a 53-year-old woman with progressive weakness of the left arm, gradually spreading to the other limbs. Neurological examination revealed a motor neuron syndrome with paresis, fasciculations and atrophy. Electrophysiological studies showed multiple motor conduction blocks.

Familial juvenile focal amyotrophy of the upper extremity (Hirayama disease). Superoxide dismutase 1 genotype and activity.

Background: Juvenile focal amyotrophy of the arm is an unusual focal motor neuron disease that is rarely familial. Its pathogenesis is unknown. We recently described a family with amyotrophic lateral sclerosis associated with a mutation in the superoxide dismutase 1 (SOD1) gene substituting an aspartate for an alanine (D9OA).

Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome.

Multiple lentigines (LEOPARD) syndrome has been delineated as an autosomal dominant disorder with lentigines, cardiac abnormalities, variable mental retardation, and typical craniofacial features as the most characteristic findings. LEOPARD syndrome shows a great clinical overlap with neurofibromatosis type 1 (NF1). In this report we describe a de novo missense mutation (M 1035R) in exon 18 of the NF1 gene in a young woman with a prior diagnosis of LEOPARD syndrome.

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).

Hereditary neuropathy with liability to pressure palsies (HNPP) is in most cases associated with an interstitial deletion of the same 1.5-Mb region at 17p11.2 that is duplicated in Charcot-Marie-Tooth type 1A (CMT1A) patients.

Focal leptomeningeal MR enhancement along the chiasm as a presenting sign of multiple sclerosis.

We demonstrate focal leptomeningeal enhancement along the chiasm on MRI in a 28-year-old man presenting with blurred vision and bitemporal visual field defects. The diagnosis of clinically definite multiple sclerosis was confirmed by laboratory investigations and brain MR findings.

Neurocysticercosis: a poorly understood disease.

A 22-year-old male patient of Indian origin presented with generalized seizures. Brain magnetic resonance imaging (MRI) showed two cystic lesions. Extensive screening only revealed positive skin tests for tuberculosis.

Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies.

Hereditary neuropathy with liability to pressure palsies (NHPP) is an autosomal dominant disease of peripheral nerves, characterized by recurrent focal neuropathies often with an underlying asymptomatic polyneuropathy. We report the clinical, electrophysiological, and histopathological findings in three families with HNPP and confirm the presence of a deletion on chromosome 17p11.2, including all the markers known to be duplicated in Charcot-Marie-Tooth disease type 1A.

Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a degenerative motor neuron disease that is inherited as an autosomal dominant trait in approximately 10% of cases. Recently we and others identified several single-base mutations in the Cu/Zn superoxide dismutase (SOD1) gene in patients with familial ALS (FALS). Using single-strand conformational polymorphism, we studied the C to G mutation in exon 2 of the SOD1 gene (resulting in a leucine to valine substitution in position 38) in affected and unaffected members of a large Belgian family with FALS.

Angiotensin II is retained in gonadotrophs of pituitary cell aggregates cultured in serum-free medium but does not mimic the effects of exogenous angiotensins and luteinizing-hormone-releasing hormone on growth hormone release.

Angiotensin II (AII)-like immunoreactivity (LIR) was detected by immunostaining in 7.5 +/- 1.1% of cells obtained by redispersion of pituitary cell aggregates from 15- to 20-day-old female rats, cultured for 5-7 days in serum-free medium supplemented with thyroid hormone and dexamethasone.

Stimulation of prolactin secretion from rat pituitary by luteinizing hormone-releasing hormone: evidence against mediation by angiotensin II acting through a (Sar1-Ala8)-angiotensin II-sensitive receptor.

In aggregate cell cultures of 15- to 20-day-old rat pituitary maintained in serum-free medium, luteinizing hormone-releasing hormone (LHRH) (10 nM) stimulated prolactin (PRL) release, confirming our previous results and those of others with serum-supplemented medium. Since angiotensin II (AII) stimulates PRL release and a renin-angiotensin system is expressed in gonadotrophs, LHRH stimulation of PRL release might be mediated by AII. To evaluate this hypothesis, the influence of (Sar1,Ala8)AII and (Sar1,Ile8)AII two peptide AII receptor antagonists, of DUP753, a nonpeptide and stable AII receptor antagonist, of a converting enzyme inhibitor, and of angiotensinogen on LHRH-induced PRL release was tested in various in vitro conditions of 15- to 20-day-old female rat pituitary.

MRI of herpes simplex encephalitis.

The magnetic resonance imaging (MRI) findings in eight patients with herpes simplex meningoencephalitis were reviewed: 14 examinations were analysed. The most striking finding was high signal intensity in the temporal lobe(s) with the typical configuration known from CT. Meningeal enhancement after Gd-DTPA administration was clearly seen in four patients.

Purulent meningitis due to aspergillosis in a patient with systemic lupus erythematosus.

We report a 39-year-old female patient with systemic lupus erythematosus under immunosuppressive therapy who developed persistent neutrophilic meningitis, for which no infectious agent could be identified. Intensifying the immunosuppressive therapy induced a short amelioration of the clinical picture. At autopsy, basal meningitis was found to be due to Aspergillus sp.

Evidence for a pertussis toxin-sensitive signalling pathway in the dual action of angiotensin II on growth hormone release in pituitary cell aggregates.

In anterior pituitary cell aggregates cultured in the presence of the glucocorticoid dexamethasone (DEX) angiotensin II (AII) had a dual effect on growth hormone (GH) release. The peptide stimulated the release in aggregates from 2-week-old rats, whereas the peptide had an inhibitory effect in cultures from adult rats. Treatment of aggregates from adult rats with pertussis toxin (PT) reversed the inhibitory effect of AII on GH release in a stimulatory effect; PT treatment of aggregates from 18- to 20-day-old rats significantly enhanced the stimulation of GH release by AII.

Myasthenic syndrome caused by direct effect of chloroquine on neuromuscular junction.

Chloroquine induced a myasthenic syndrome in a patient taking the drug for presumable reticular erythematous mucinosis. Clinical features and results of single-fiber electromyography were typical for a failure of neuromuscular transmission, while peripheral nerves and muscles were intact on clinical, biochemical, electrophysiologic, and pathologic investigation. The time course of the clinical and electrophysiologic findings during provocation with chloroquine and the absence of autoantibodies indicate that the syndrome was due to a direct effect of the drug on the neuromuscular junction.

Enhanced ANG II activity in anterior pituitary cell aggregates from hypertensive rats.

Pituitary cell reaggregates from 14-day-old and adult spontaneously hypertensive rats (SHR) and Wistar-Kyoto rats (WKY) were cultured in serum-free, chemically defined medium supplemented with the thyroid hormone triiodothyronine and the glucocorticoid dexamethasone. After 1 wk in culture, aggregates were transferred into a perifusion system, and the effect of angiotensin II (ANG II) on prolactin (PRL) and growth hormone (GH) release was studied. In aggregates from adult SHR, ANG II displayed a significant and dose-dependent GH releasing activity, whereas a negligible effect or no effect was seen in aggregates from adult WKY.

Painful muscle spasms complicating algodystrophy: central or peripheral disease?

A 21 year old female patient developed Südeck's atrophy of the right foot secondary to a chronic Achilles tendinitis. The condition was complicated by the occurrence of painful muscle spasms in the right leg and incontinence of urine. The spasms had characteristics of both a tonic ambulatory foot response and a spinal flexor reflex.