Patients with Klinefelter syndrome have a higher prevalence of postural and action tremor that the generalpopulation, but are typically diagnosed before developing tremor. We here report a 68 year old patient diagnosedwith Klinefelter syndrome while being tested for FXTAS and review the available literature on this subject.Klinefelter syndrome (KS) is the most common aneuploidy in men,affecting 0.1â0.2% of the general population . While postural andaction tremor are more frequent in KS patients than in the generalpopulation , these patients are generally already diagnosed with KSby the time tremor develops. Indeed, KS is not currently in the clinicallist for differential diagnosis of tremor. We here report the case of a 68year old man diagnosed with KS while being investigated for fragile Xassociated tremor and ataxia syndrome. While KS is the most common aneuploidy in men, affecting0.1-0.2% of the general population , only 2 patients reported in theliterature have previously been diagnosed with KS while being tested
for FXTAS. The pathophysiology of tremor in KS patients is unclear. It has beensuggested that, since cortical and subcortical oscillators are involved, damage to the corticothalamic fibers could account for it . This could be secondary to abnormal brain development and function,either directly from the chromosomal defect.
Mehanna R, Tremor, FXTAS and Klinefelter Syndrome
Last date updated on July, 2014