Treatment of "permanent" muscle weakness in familial Hypokalemic Periodic Paralysis.

Three patients with Hypokalemic Periodic Paralysis (HOPP)-associated progressive interattack muscle weakness, who became unresponsive or worsened by acetazolamide, responded favorably to dichlorophenamide, a more potent carbonic anhydrase inhibitor. Dichlorophenamide in single-blind placebo-controlled trials, considerably improved functional strength in two of the patients and had a moderate but definite effect in the third. Muscle groups graded 4/5 (MRC scale)returned to normal; very weak (0-3/5) atrophic muscles, improved to a minor degree.

Increased circulation of T lymphocytes bearing surface thymosin alpha 1 in patients with myasthenia gravis: effect of thymectomy.

We studied the interaction of the thymic hormone thymosin alpha 1 with peripheral blood B and T lymphocytes in patients with myasthenia gravis (MG), using antibodies against thymosin alpha 1 in an immunofluorescence technique. Eleven of 16 patients with symptomatic MG had an increased number of T lymphocytes bearing surface thymosin alpha 1 (T alpha 1); 5 patients with asymptomatic disease had normal levels of T alpha 1. In six young adults with symptomatic MG who subsequently responded to thymectomy, the number of T alpha 1 cells returned to normal 1 month after thymectomy.

Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria.

A 14-year-old boy had myoglobinuria and renal failure after intense exercise; a year earlier he had experienced a milder episode. There was no consanguinity and no family history of neuromuscular diseases or hemolytic anemia. Strength was normal.

Amyloid in hereditary amyloid polyneuropathy is related to prealbumin.

The origin of amyloid in the several subsets of hereditary amyloid polyneuropathy (HAP) is unknown. A recent biochemical study of extracted amyloid indicated that in the "portuguese" type of HAP it consists of a prealbumin-related protein. With the use of specific antibodies against human prealbumin, AA, and kappa and lambda type proteins, we demonstrated by indirect immunofluorescence that the amyloid in muscle biopsy specimens from five Americans and one Brazilian with HAP and one Brazilian without a family history (but with typical clinical disease and no plasma cell dyscrasia) was stained exactly and specifically only with antiprealbumin.

Polyneuropathy with monoclonal gammopathy: studies of 11 patients.

Among patients with chronic idiopathic nonfamilial polyneuropathy studied 3 to 21 years after onset, we identified 11 cases associated with monoclonal gammopathy (MCG) (5 with IgGk, 4 with IgMk, 2 with IgG lambda). The patients, aged 29 to 80 years, presented with sensorimotor polyneuropathy of insidious onset and slow, nonfluctuating progression, delayed motor and sensory nerve conduction, and increased cerebrospinal fluid (CSF) protein. None of the patients in the initial or follow-up study (mean, 9.

Immunocytochemical localization of thymosin-alpha 1 in thymic epithelial cells of normal and myasthenia gravis patients and in thymic cultures.

Thymosin alpha 1 (alpha 1) is a potent thymic polypeptide hormone. With antibodies against synthetic thymosin alpha 1, indirect immunofluorescence was applied to human normal thymus and to hyperplastic, thymomatous or "involuted" thymus of myasthenia gravis (MG) patients. Alpha 1 was localized only in the epithelial cells, lying singly, grouped, in Hassall's corpuscles or proliferated in thymomas.

Chronic relapsing (dysimmune) polyneuropathy: pathogenesis and treatment.

Chronic relapsing polyneuropathy is a distinct dysschwannian/demyelinating polyneuropathy characterized by usually slow onset, progressive or relapsing-remitting course, elevated cerebrospinal fluid (CSF) protein, marked slowing of nerve conduction velocity, segmental demyelination demonstrable in sural nerve biopsies, and absence of systemic illness or abnormal serum immunoglobulins. The cause of the disorder and the mechanisms underlying its chronicity and relapsing-remitting course are not clear. Immunoglobulin deposition observed in sural nerve biopsies and abnormal immunoglobulin patterns in the "CSF in some cases suggest a dysimmune pathogenesis; thus the term chronic relapsing (dysimmune) polyneuropathy (CRDP) is preferred.

Splenic and total-body irradiation treatment of myasthenia gravis.

X-irradiation is introduced as a new therapeutic technique in the treatment of otherwise intractable myasthenia gravis (MG) and polymyositis (PM), on the basis that these dysimmune diseases are "lymphocyte dyscrasias" and that lymphocytes are the circulating cells most sensitive to x-irradiation. Splenic irradiation, 1000 rads per two-week course, repeated up to three courses, in five MG patients produced objective improvement in three and subjective improvement in another. The improvement was transient and accompanied by a temporary lymphocytopoenia.

Identification of human thymic epithelial cells with antibodies to thymosin alpha 1 in myasthenia gravis.

Thymosin-alpha 1 (alpha 1) is a potent thymic polypeptide hormone. Using anti-alpha 1 antibodies, we applied indirect immunofluorescence to human normal thymus of different ages and to hyperplastic, thymomatous, and "involuted" thymus of myasthenia gravis (MG) patients. Alpha 1 was localized only in the epithelial cells, lying singly, grouped, in Hassell's corpuscles, and proliferated in thymomas.

Immunoglobulin and complement deposits in nerves of patients with chronic relapsing polyneuropathy.

Sural nerve biopsy specimens from seven patients with chronic relapsing polyneuropathy (CRP) were studied by direct immunofluorescence. Granular deposits containing IgM (7/7) and C3 (6/7) (and occasionally IgG, 3/7) were found in intraneural blood vessels. Linear deposits of IgM (6/7) (and occasionally IgG, 3/7) without C3 (0/7) were found on the Schwann cell plasmalemma (and sometimes extending deeper into the Schwann cell) of yet undemyelinated portions of nerve fibers.

Nature of the reversible white matter lesion in multiple sclerosis. Effects of acute inflammation on myelinated tissue studied in the rabbit eye.

Arthus reactions of different intensities were induced in the rabbit eye using measles vaccine as the immunogen. In the presence of a mild Arthus reaction in the vitreous, myelinated nerve fibre bundles on the retinal surface revealed extracellular oedema together with marked swelling and rupture of astrocyte processes, including those bearing a special relationship to nodes of Ranvier. These changes improved or disappeared over the course of six days.

CSF "monoclonal" bands in chronic relapsing polyneuropathy.

The characteristics and temporal profiles of cerebrospinal fluid (CSF) and serum immunoglobulin patterns on agarose gel electrophoresis were studied in 47 patients with acute idiopathic polyneuropathy (AIP) and 15 patients with chronic relapsing polyneuropathy (CRP). Nineteen of 47 patients with AIP had transient oligoclonal IgG bands, which disappeared when the neurologic signs subsided. By contrast, 14 of 15 patients with CRP had a "monoclonal" (single) IgG band, which (1) was unchanged on repeated CSF examinations over 18 months, (2) was unaffected by corticosteroid therapy, and (3) did not correlate with the severity or chronicity of the disease.

Human schwann cells in tissue culture: histochemical and ultrastructural studies.

Schwann cells cultures were established from 40 human peripheral nerves that underwent biopsy according to an explant-reexplantation technique that markedly reduces non-Schwann cells and achieves cultures greatly enriched in Schwann cells suitable for a wide range of studies. Described are the growth characteristics and histochemical, ultrastructural, and ultrastructural-cytochemical patterns of normal human cultured Schwann cells from 12 patients with demonstrable peripheral nerve abnormality. These findings serve as a basis of comparison when seeking abnormalities of Schwann cells grown from peripheral nerves of patients with putative dysschwannian neuropathies.

Leukoencephalopathy in oculocraniosomatic neuromuscular disease with ragged-red fibers. Mitochondrial abnormalities demonstrated by computerized tomography.

In a group of 13 patients affected by oculocraniosomatic neuromuscular disease with mitochondrial abnormalities and ragged-red fibers, a major, diffuse leukoencephalopathic process was recognized by computerized tomography (CT) in three cases. Clinically, these three patients were the most severely affected. The areas involved by the leukoencephalopathic process did not show enhancement after contrast medium injection.