Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy.

Pompe's disease (glycogen storage disease type II) is an autosomal recessive myopathy caused by lysosomal alpha-glucosidase deficiency. Enzyme replacement therapy (ERT) is currently under development for this disease. We evaluated the morphological changes in muscle tissue of four children with infantile Pompe's disease who received recombinant human alpha-glucosidase from rabbit milk for 72 weeks.

Anti-GM1 IgG antibodies induce leukocyte effector functions via Fcgamma receptors.

Guillain-Barré syndrome (GBS) is an immune-mediated neuropathy, in which leukocytes and humoral components of the immune system proposedly initiate localized inflammation. An important pathogenic role for anti-GM1 ganglioside antibodies has been suggested. Therefore, we evaluated anti-GM1 IgG antibody-induced leukocyte effector functions such as degranulation and phagocytosis using serum of 24 GBS patients.

Screening for anti-ganglioside antibodies in hypocretin-deficient human narcolepsy.

Narcolepsy is a sleep disorder caused by defective hypocretin (orexin) neurotransmission. It is thought to result from an autoimmune destruction of hypocretin producing neurons. Recently, low hypocretin levels were found in patients with Guillain-Barré syndrome, a post-infectious immune-mediated disorder in which a variety of circulating antibodies against neuronal gangliosides are found.

Treatment of immune neuropathies.

Purpose Of The Review: Guillain-Barré syndrome (GBS), chronic inflammatory demyelinating poly(radiculo)neuropathy (CIDP) and multifocal motor neuropathy (MMN) are potentially treatable disorders. The use of appropriate assessment scales to evaluate the effects of treatment is essential. Recent therapeutic trials and the question of whether patients with mild disease or other variants of these disorders need to be treated are discussed.

Comparison of weakness progression in inclusion body myositis during treatment with methotrexate or placebo.

We investigated whether 5 to 20mg per week oral methotrexate could slow down disease progression in 44 patients with inclusion body myositis in a randomized double-blind placebo-controlled study over 48 weeks. Mean change of quantitative muscle strength testing sum scores was the primary study outcome measure. Quantitative muscle strength testing sum scores declined in both treatment groups, -0.

Psychometric evaluation of a new handicap scale in immune-mediated polyneuropathies.

A new handicap measure, the Rotterdam nine-item handicap scale, was developed and its validity, reliability, and responsiveness evaluated in patients with immune-mediated polyneuropathies. We evaluated 113 stable patients, of whom 83 had Guillain--Barré syndrome (GBS), 22 had chronic inflammatory demyelinating polyneuropathy (CIDP), and 8 had a gammopathy-related polyneuropathy. We also studied 20 patients with recently diagnosed GBS (n = 7) or CIDP (n = 13) and changing clinical conditions (longitudinal group).