Worsening of motor symptoms and gynecomastia during spironolactone treatment in a patient with Parkinson's disease and congestive heart failure

✍ Scribed by Hélio A.G. Teive; Renato P. Munhoz; Lineu C. Werneck

• Publisher: John Wiley and Sons
• Year: 2007
• Tongue: English
• Weight: 42 KB
• Volume: 22
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.21579

✦ Synopsis

roradiological features beyond the typical cerebellar peduncle hyperintensities that were found minimal in this instance.

FXTAS is expected to be less severe in females because of the presence of two X chromosomes, subject to random inactivation. It has been suggested that expression of the disease in women may be due to preferential inactivation of the X chromosome carrying the normal FMR1 allele and we have shown this to be the case for our patient in leukocyte DNA. However, this result does not necessarily represent the situation in other tissues, including the CNS.

FXTAS can no longer be considered as a condition affecting only males but as an X-linked dominant condition with a milder clinical picture in females. Because the prevalence of the premutation is quite high (ϳ1 in 260 in females and 1 in 810 males), FXTAS may turn out to be much more frequent than currently appreciated, even in females. Until more is known about the incidence of FXTAS in female carriers, this disorder should be added to the differential diagnosis of a late-onset postural tremor, focal dystonia, or progressive cerebellar ataxia in females.