Hexosaminidase A activity and amyotrophic lateral sclerosis.

Abnormalities of GM2 ganglioside metabolism owing to hexosaminidase A (Hex A) deficiency have been associated with ALS phenotypes. The clinical features described in these ALS patients with Hex A deficiency include early onset, positive family history, and/or long disease duration. In an attempt to determine prospectively the incidence of Hex A deficiency within an ALS population, the records of The Mount Sinai Medical Center ALS Clinic were reviewed to select those patients with "atypical" ALS (total N = 52), i.

Abnormal glutamate metabolism in amyotrophic lateral sclerosis.

Glutamate levels were determined in the fasting plasma of 22 patients with early-stage primary amyotrophic lateral sclerosis (ALS) and compared to those of healthy and diseased controls. There was a significant increase (by approximately 100%, p less than 0.0005) in the plasma glutamate of the ALS patients as compared with the controls.

Amyotrophic lateral sclerosis. Its natural history.

ALS is the most common of the various MNDs, which also include the clinical entities of PBP, PMA, and PLS. Mean age of onset of ALS is 57 years, and there is a sex predilection for men in a ratio of 1.5:1.

Quantitative cerebrospinal fluid IgG measurements as a marker of disease activity in multiple sclerosis.

The value of various parameters of reporting quantitative cerebrospinal fluid (CSF) IgG levels to indicate disease activity in 34 patients with clinically definite multiple sclerosis was examined. IgG alone correlated significantly with increasing degree of disability and increasing number of clinical central nervous system lesions. There was also a trend toward higher mean IgG levels when the course was relapsing and progressive as opposed to progressive or relapsing.