John E. Gould

Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurological disorder that affects older adult carriers, predominantly males, of premutation alleles (55 to 200 CGG repeats) of the fragile X (FMR1) gene. Principal features of FXTAS are intention tremor, ataxia, parkinsonism, cognitive decline, and peripheral neuropathy; ancillary features include, autonomic dysfunction, and psychiatric symptoms of anxiety, depression, and disinhibition. Although controlled trials have not been carried out in individuals with FXTAS, there is a significant amount of anecdotal information regarding various treatment modalities. Moreover, there exists a great deal of evidence regarding the efficacy of various medications for treatment of other disorders (eg, Alzheimer disease) that have substantial phenotypic overlap with FXTAS. The current review summarizes what is currently known regarding the symptomatic treatment, or potential for treatment, of FXTAS.

Enzyme immunoassay method for total urinary follicle-stimulating hormone (FSH) beta subunit and its application for measurement of total urinary FSH☆

OBJECTIVE To develop and validate an enzyme-linked immunosorbent assay (ELISA) for total urinary follicle-stimulating hormone (FSH) that can be used to evaluate frozen-thawed urine samples. DESIGN A method was developed for dissociating urinary FSH into subunits by boiling. An ELISA for the free beta subunit of FSH was used to measure total FSH in urine samples collected from male and female volunteers. The urinary FSH values were compared with serum FSH concentrations in paired samples. SETTING A clinical research laboratory. PATIENT(S) Serum and urine samples from normal male and female volunteers and from men with infertility were used to develop and validate an assay for total urinary FSH. INTERVENTION(S) None. RESULT(S) Urinary FSH concentrations in frozen-thawed urine were highly correlated to matched serum FSH concentrations. CONCLUSION(S) A microtiter plate ELISA for FSH beta subunit provides an economical method for evaluating FSH secretion in men and women. This method has practical applications for population-based epidemiologic studies in which urine samples are collected in the field and stored frozen before analysis.

Sperm-immunobead binding decreases with in vitro incubation *

OBJECTIVE To characterize the stability of the sperm-immunobead association over time. DESIGN Prospective evaluation of sperm-immunobead binding, using direct and indirect assays. SETTING Male Infertility Clinic, University of California, Davis, Davis, California. PATIENTS Eleven men with sperm surface antibodies and 25 men with serum antisperm antibodies volunteered. MAIN OUTCOME MEASURES Repeated assessment of sperm-immunobead binding over time. RESULTS Serum immunoglobulin (Ig)G decreased a mean of 42.6% over 30 minutes, and serum IgA decreased a mean of 22.7% over 30 minutes. Semen-derived IgG binding fell a mean of 59.9% and semen-derived IgA fell a mean of 27.0% over 25 to 40 minutes. CONCLUSIONS Sperm-immunobead coincubation results in a decrease in the number of sperm bound to immunobeads.

What functions of the sperm cell are measured by in vitro fertilization of zona-free hamster eggs?**Supported by the National Institutes of Health grant HD 15149.††Presented at the Thirty-Eighth Annual Meeting of The American Fertility Society, March 20 to 24, 1982, Las Vegas, Nevada.

Human spermatozoa were capacitated in media containing either high concentrations (3.5%) of human serum albumin (HSA) or low concentrations (0.3%) of bovine serum albumin (BSA). The effects of both capacitation media were assessed immediately and after overnight preincubation (18 to 24 hours) by adding a mixture of nonliving human oocytes and living zona-free hamster eggs to the sperm suspension. Overnight preincubation of sperm in media containing 3.5% HSA enhanced sperm fusion with hamster vitelli, but the capacity for zona penetration was lost. These effects could be attributed to the concentration of HSA rather than a general effect of albumin concentration, because overnight preincubation in 3.5% BSA did not interfere with zona penetration. During overnight incubation in 3.5% HSA, the percentage of acrosome reactions increased, as did alterations in the equatorial segment of the acrosome-reacted sperm. The percentage of motile sperm remained high after overnight incubation in 3.5% HSA, but both the mean swimming speed and flagellar activity on the zona surface declined. The sperm also lost their ability for strong zona binding after overnight incubation in 3.5% HSA.