No electrophysiological evidence for Onuf's nucleus degeneration causing bladder and bowel symptoms in Huntington's disease patients

Abstract

We found no EMG signs of Onuf's nucleus degeneration in HD patients. The observed decreased anal sphincter tonic activity and voluntary activation, lower sacral sensory thresholds and shorter reflex latencies as well as the reported bladder/bowel symptoms, are probably caused by degeneration of other central nervous system structures. Neurourol. Urodynam. 33:524-530, 2014. © 2013 Wiley Periodicals, Inc.

High Frequency of Concomitant Bladder, Bowel, and Sexual Symptoms in Huntington’s Disease: A Self-Reported Questionnaire Study

“…As in other degenerative CNS diseases, loss of supraspinal neurons results in a loss of inhibition of the micturition reflex, resulting in bladder overactivity with urinary urgency, frequency, nocturia, and urgency incontinence [ 32 ]. Limited studies have reported urinary symptoms in HD [ 2 , 5 , 6 , 7 ], and our findings corroborate them, with a high frequency of bladder dysfunction in our clinic population. In their cohort of 54 HD patients, Kolenc et al reported a significant level of urinary symptomology in both men and women, with the most common symptoms being bladder overactivity (frequency, urgency), urinary incontinence, and symptoms of disturbed emptying [ 2 ].…”

“…The clinical features of HD are commonly described as a triad of motor, cognitive, and psychological symptoms, which are attributed to neuronal loss in the striatum and other areas of the brain. However, sparse attention has been paid to the association of HD with development of pelvic organ dysfunction, encompassing bladder, bowel, and sexual organs or the presence of concomitant symptomatology [ 2 , 3 , 4 , 5 , 6 , 7 ]. Current texts of HD rarely mention the presence of bladder and bowel dysfunction in HD, and the reporting of sexual function is presented predominantly in the context of disordered psychiatric manifestations [ 8 , 9 , 10 , 11 ].…”

Systemic Symptoms in Huntington's Disease: A Comprehensive Review

“…24 On the other hand, fecal incontinence has also been reported, with two prevalence peaks: the first early in the disease, and probably a consequence of fecal urgency that might outline progressive deregulation between cortical and brainstem autonomic centers; the second, later in the disease, attributed to decreased mobility. 24 Anorectal manometry, 24 anal sphincter EMG and sacral reflex studies 7,102 in HD patients with bladder or bowel symptoms suggest a central dysregulation, probably involving basal ganglia and frontal lobes, as the etiology of lower bowel symptoms. There are no available recommendations for the management of lower bowel symptoms in HD patients.…”

Movement Disorders and the Gut: A Review

“…66 Several studies have shown no evidence of degeneration in Onuf's nucleus, although anal sphincter EMG studies do demonstrate decreased tonic sphincter activity and impaired voluntary activation. 67 Liver Dysfunction. Using the 13 C-methionine breath test as a surrogate for liver mitochondrial function, researchers have demonstrated subclinical liver dysfunction in both manifest and premanifest populations of HD.…”

“…Anorectal dysfunction, manifesting as incontinence or constipation, is significantly more prevalent in individuals with HD compared with healthy controls and may even arise in the premanifest stage 66 . Several studies have shown no evidence of degeneration in Onuf's nucleus, although anal sphincter EMG studies do demonstrate decreased tonic sphincter activity and impaired voluntary activation 67 …”