Male sexual function in presymptomatic gene carriers and patients with Huntington's disease

Kolenc, Matej; Kobal, Jan; Podnar, Simon

doi:10.1016/j.jns.2015.11.015

Cited by 11 publications

(22 citation statements)

References 40 publications

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“…Of the remaining 162, only nine fulfilled our eligibility criteria. Almost all of the included studies identified several sexual dysfunctions related to HD, with the most prevalent being sexual desire disorder [7,10,11,12,13] and hyposexuality rather than hypersexuality.…”

Section: Resultsmentioning

confidence: 99%

Sexual dysfunction in Huntington’s Disease — a systematic review

Szymuś

Bystrzyński

Kwaśniak-Butowska

et al. 2020

Neurol Neurochir Pol.

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Introduction. Huntington's Disease (HD) is a neurodegenerative disorder of which the main symptoms are motor, cognitive and behavioural problems sometimes including sexual dysfunction. Aim.To review the current knowledge on sexual dysfunction in HD.Methods. Databases of Pubmed and Scopus were searched. Only original studies performed after 1994 were included (from 1994 a genetic test = proven diagnosis).Results. 162 publications were found, but only nine met our established criteria. The majority of patients with HD suffer from sexual disorders. The most common are: hypoactive sexual disorder (53-83% of patients), hyperactive sexual disorder (6-30%), erectile (48-74%) and ejaculatory dysfunctions (30-65%), lubrication problems (53-83%), and orgasmic dysfunction (35-78%).Discussion. Results may be biased for several reasons e.g.: social taboos regarding sex lives, medications that affect sexual function, impaired self-awareness of patients, small study samples, a lack of standardised questionnaires, and a focus only on the presence of sexual problems without describing them.Conclusions. Sexual disorders in HD are common. This is a problem that is probably underestimated, both by patients/caregivers and physicians, who should focus more on these symptoms in order to improve patient quality of life.

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Section: Resultsmentioning

confidence: 99%

Sexual dysfunction in Huntington’s Disease — a systematic review

Szymuś

Bystrzyński

Kwaśniak-Butowska

et al. 2020

Neurol Neurochir Pol.

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“…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 ].…”

Section: Introductionmentioning

confidence: 99%

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

Vicars

Liu

Holt

et al. 2021

JPM

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Huntington’s disease (HD) can be associated with pathologic involvement beyond the striatum including the autonomic nervous system. Bladder, bowel, and sexual dysfunction have been reported independently in HD, but little is known about their concomitant occurrence. To document this concomitant phenomena, forty-eight subjects (54% male, ages 28–74 years, CAG repeat 38–61) with manifest/symptomatic HD completed detailed questionnaires regarding bladder, bowel, and sexual function. In total, 45 subjects (93.8%) reported symptoms in at least one organ system (bladder, bowel, or sexual), 13 (27.1%) reported symptoms in two systems, and 19 (39.6%) reported concomitant symptoms in all three systems. Urinary problems were most frequent in 42 subjects (87.5%) followed by lower bowel (60.4%) and sexual dysfunction (56.2%). Participants reporting concomitant symptoms were more likely to have longer duration of disease and lower Total Functional Capacity (TFC) scores. This study documents the high frequency of bladder, bowel, and sexual dysfunction in HD and the common occurrence of concomitance of these pelvic organ problems.

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“…While a high percentage of patients suffer of sexual disturbances [ 9 ], the underlying mechanisms are not known, nor it is clear to which extend these symptoms are specific for the disease or secondary to other symptoms. More recent research also reported impaired sexual performance and problems with erections in HD [ 11 ]. Thus, HD patients suffer a wide variety of sexual dysfunctions of which the biological causes remain unclear.…”

Section: Introductionmentioning

confidence: 99%

Sexual behavior and testis morphology in the BACHD rat model

et al. 2018

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BackgroundHuntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin (HTT) gene, which results in brain neurodegeneration and peripheral pathology affecting different organs including testis. Patients with HD suffer from motor and cognitive impairment, and multiple psychiatric symptoms. Among behavioral abnormalities in HD, sexual disturbances have often been reported, but scarcely investigated in animal models. The BACHD rat model of HD carries the human full-length mutated HTT (mHTT) genomic sequence with 97 CAG-CAA repeats and displays HD-like alterations at neuropathological and behavioral level.ObjectiveThis study aims to phenotype the BACHD rats’ sexual behavior and performance as well as testis morphology because alterations in these aspects have been associated to HD.MethodsTwo rat cohorts at the age of 3 and 7 months were subjected to mating tests to assess different parameters of sexual behavior. Histological analyses for testis morphology were performed in different rat cohorts at 1.5, 7 and 12 months of age whereas immunohistochemical analyses were carried out at 7 and 12 months of age to visualize the presence of mHTT in testicular tissue. Furthermore, western blot analyses were used to assess HTT and mHTT expression levels in striatum and testis at three months of age.ResultsAt 3 months, BACHD rats showed a decreased time exploring the female anogenital area (AGA), decreased latency to mount, increased number of intromissions and ejaculations and enhanced hit rate. At 7 months, all sexual parameters were comparable between genotypes with the exception that BACHD rats explored the AGA less than wild type rats. Testis analyses did not reveal any morphological alteration at any of the examined ages, but showed presence of mHTT limited to Sertoli cells in transgenic rats at both 7 and 12 months. BACHD rat HTT and mHTT expression levels in testis were lower than striatum at 3 months of age.ConclusionsThe testis phenotype in the BACHD rat model does not mimic the changes observed in human HD testis. The altered sexual behavior in BACHD rats at three months of age could be to a certain extent representative of and share common underlying pathways with some of the sexual disturbances in HD patients. Further investigating the biological causes of the sexual phenotype in BACHD rats may therefore contribute to clarifying the mechanisms at the base of sexual behavior changes in HD.

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Male sexual function in presymptomatic gene carriers and patients with Huntington's disease

Cited by 11 publications

References 40 publications

Sexual dysfunction in Huntington’s Disease — a systematic review

Sexual dysfunction in Huntington’s Disease — a systematic review

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

Sexual behavior and testis morphology in the BACHD rat model

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