{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T15:23:43Z","timestamp":1783092223416,"version":"3.54.6"},"reference-count":49,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2022,5,25]],"date-time":"2022-05-25T00:00:00Z","timestamp":1653436800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health","award":["RC2101MH09"],"award-info":[{"award-number":["RC2101MH09"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>(1) Background: Sleep patterns are frequently disrupted in neurodegenerative disorders such as Huntington disease (HD); however, they are still poorly understood, especially their association with clinic features. Our study aimed to explore potential correlations between sleep features and motor, cognitive, behavioural and functional changes in manifest HD subjects. (2) Methods: We enrolled 42 patients who were assessed by the Pittsburgh Sleep Quality Index (PSQI) and Insomnia Severity Index (ISI) questionnaires; clinical features were evaluated by the validated ENROLL-HD platform assay, including the Unified Huntington\u2019s Disease Rating Scale (UHDRS) and the Problem Behaviours Assessment Short Form (PBA-s). (3) Results: We found a significant association between the patients\u2019 perception of sleep abnormalities and scores of impaired independence, cognitive and motor performances. Specifically, sleep efficiency (PSQI\u2014C4 subscores) and the use of sleep medications (PSQI\u2014C6 subscores) seem to be more frequently associated with the severity of the disease progression. (4) Conclusion: sleep abnormalities represent an important part of the HD clinical profile and can impair patients\u2019 quality of life by affecting their level of independence, cognition performance and mental well-being.<\/jats:p>","DOI":"10.3390\/jpm12060864","type":"journal-article","created":{"date-parts":[[2022,5,25]],"date-time":"2022-05-25T08:41:33Z","timestamp":1653468093000},"page":"864","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Sleep Quality and Related Clinical Manifestations in Huntington Disease"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8295-8532","authenticated-orcid":false,"given":"Sabrina","family":"Maffi","sequence":"first","affiliation":[{"name":"Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2767-7295","authenticated-orcid":false,"given":"Eugenia","family":"Scaricamazza","sequence":"additional","affiliation":[{"name":"Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2665-231X","authenticated-orcid":false,"given":"Simone","family":"Migliore","sequence":"additional","affiliation":[{"name":"Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Casella","sequence":"additional","affiliation":[{"name":"Italian League for Research on Huntington (LIRH) Foundation, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Consuelo","family":"Ceccarelli","sequence":"additional","affiliation":[{"name":"Italian League for Research on Huntington (LIRH) Foundation, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7397-1727","authenticated-orcid":false,"given":"Ferdinando","family":"Squitieri","sequence":"additional","affiliation":[{"name":"Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1111\/cge.12574","article-title":"Epidemiology of Huntington Disease: First Post- HTT Gene Analysis of Prevalence in Italy: Prevalence of Huntington Disease in Italy","volume":"89","author":"Squitieri","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1159\/000516767","article-title":"Modeling Manifest Huntington\u2019s Disease Prevalence Using Diagnosed Incidence and Survival Time","volume":"55","author":"Crowell","year":"2021","journal-title":"Neuroepidemiology"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1056\/NEJM199405193302001","article-title":"A Worldwide Study of the Huntington\u2019s Disease Mutation: The Sensitivity and Specificity of Measuring CAG Repeats","volume":"330","author":"Kremer","year":"1994","journal-title":"N. Engl. J. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/S1474-4422(09)70170-X","article-title":"Biological and Clinical Manifestations of Huntington\u2019s Disease in the Longitudinal TRACK-HD Study: Cross-Sectional Analysis of Baseline Data","volume":"8","author":"Tabrizi","year":"2009","journal-title":"Lancet Neurol."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"McColgan, P., Seunarine, K.K., Gregory, S., Razi, A., Papoutsi, M., Long, J.D., Mills, J.A., Johnson, E., Durr, A., and Roos, R.A.C. (2017). Topological Length of White Matter Connections Predicts Their Rate of Atrophy in Premanifest Huntington\u2019s Disease. JCI Insight, 2.","DOI":"10.1172\/jci.insight.92641"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1002\/mds.26003","article-title":"Plasma Melatonin Is Reduced in Huntington\u2019s Disease","volume":"29","author":"Kalliolia","year":"2014","journal-title":"Mov. Disord."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1002\/ana.24495","article-title":"Sleep Deficits but No Metabolic Deficits in Premanifest H Untington\u2019s Disease","volume":"78","author":"Lazar","year":"2015","journal-title":"Ann. Neurol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.jns.2016.03.021","article-title":"Subjective Sleep Problems in Huntington\u2019s Disease: A Pilot Investigation of the Relationship to Brain Structure, Neurocognitive, and Neuropsychiatric Function","volume":"364","author":"Baker","year":"2016","journal-title":"J. Neurol. Sci."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1672","DOI":"10.1212\/WNL.35.11.1672","article-title":"Sleep Disturbances and Severity of Huntington\u2019s Disease","volume":"35","author":"Hansotia","year":"1985","journal-title":"Neurology"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/BF00314781","article-title":"Nocturnal Sleep in Huntington\u2019s Disease","volume":"238","author":"Wiegand","year":"1991","journal-title":"J. Neurol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1001\/archneur.65.4.482","article-title":"Rapid Eye Movement Sleep Disturbances in Huntington Disease","volume":"65","author":"Arnulf","year":"2008","journal-title":"Arch. Neurol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"221","DOI":"10.3389\/fpsyt.2019.00221","article-title":"Sleep Disorders in Huntington\u2019s Disease","volume":"10","author":"Krzywoszanski","year":"2019","journal-title":"Front. Psychiatry"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1523\/JNEUROSCI.3842-04.2005","article-title":"Disintegration of the Sleep-Wake Cycle and Circadian Timing in Huntington\u2019s Disease","volume":"25","author":"Morton","year":"2005","journal-title":"J. Neurosci."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1007\/BF00314313","article-title":"Changes in Nocturnal Sleep in Huntington\u2019s and Parkinson\u2019s Disease","volume":"235","author":"Emser","year":"1988","journal-title":"J. Neurol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/B978-0-444-53702-7.00007-5","article-title":"Effects of Sleep Deprivation on Cognition","volume":"Volume 185","author":"Killgore","year":"2010","journal-title":"Progress in Brain Research"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1016\/j.nlm.2011.07.004","article-title":"The Cognitive Cost of Sleep Lost","volume":"96","author":"McCoy","year":"2011","journal-title":"Neurobiol. Learn. Mem."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"A111","DOI":"10.1097\/00001756-200112210-00001","article-title":"Sleeping Brain, Learning Brain. The Role of Sleep for Memory Systems","volume":"12","author":"Peigneux","year":"2001","journal-title":"Neuroreport"},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Moroni, F., Nobili, L., Curcio, G., De Carli, F., Fratello, F., Marzano, C., De Gennaro, L., Ferrillo, F., Cossu, M., and Francione, S. (2007). Sleep in the Human Hippocampus: A Stereo-EEG Study. PLoS ONE, 2.","DOI":"10.1371\/journal.pone.0000867"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.brainresbull.2010.01.014","article-title":"Lack of Sleep Affects the Evaluation of Emotional Stimuli","volume":"82","author":"Tempesta","year":"2010","journal-title":"Brain Res. Bull."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.smrv.2017.12.005","article-title":"Sleep and Emotional Processing","volume":"40","author":"Tempesta","year":"2018","journal-title":"Sleep Med. Rev."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.psychres.2004.05.023","article-title":"The Relationship between Alexithymia, Depression, and Sleep Complaints","volume":"128","author":"Martina","year":"2004","journal-title":"Psychiatry Res."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1016\/j.psc.2006.08.005","article-title":"Sleep and Anxiety Disorders","volume":"29","author":"Mellman","year":"2006","journal-title":"Psychiatr. Clin. N. Am."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1093\/sleep\/16.1.40","article-title":"Sleep in Normal Aging and Dementia","volume":"16","author":"Bliwise","year":"1993","journal-title":"Sleep"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.3233\/JAD-160385","article-title":"Sleep-Wake Profile in Dementia with Lewy Bodies, Alzheimer\u2019s Disease, and Normal Aging","volume":"55","author":"Cagnin","year":"2016","journal-title":"J. Alzheimer's Dis."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1590\/0004-282x20190149","article-title":"Alzheimer\u2019s Disease and Sleep Disturbances: A Review","volume":"77","author":"Borges","year":"2019","journal-title":"Arq. Neuro-Psiquiatr."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1002\/mds.27018","article-title":"REMSleep Behavior Disorder in Parkinson\u2019s Disease and Other Synucleinopathies: REM Sleep Behavior Disorder in Synucleinopathies","volume":"32","author":"Boeve","year":"2017","journal-title":"Mov. Disord."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1007\/s11065-020-09473-1","article-title":"Sleep Disorders and Cognitive Dysfunctions in Parkinson\u2019s Disease: A Meta-Analytic Study","volume":"31","author":"Maggi","year":"2021","journal-title":"Neuropsychol. Rev."},{"key":"ref_28","first-page":"1537","article-title":"Self-Reported Sleep and \u03b2-Amyloid Deposition in Community-Dwelling Older Adults","volume":"70","author":"Spira","year":"2013","journal-title":"JAMA Neurol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"667420","DOI":"10.3389\/fneur.2021.667420","article-title":"Enroll-HD: An Integrated Clinical Research Platform and Worldwide Observational Study for Huntington\u2019s Disease","volume":"12","author":"Sathe","year":"2021","journal-title":"Front. Neurol."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"(1996). Unified Huntington\u2019s Disease Rating Scale: Reliability and Consistency. Mov. Disord., 11, 136\u2013142.","DOI":"10.1002\/mds.870110204"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.smrv.2018.01.006","article-title":"Sleep Disorders and Parkinson Disease; Lessons from Genetics","volume":"41","author":"Alcalay","year":"2018","journal-title":"Sleep Med. Rev."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"519","DOI":"10.5664\/jcsm.26918","article-title":"Behavioral and Physiological Consequences of Sleep Restriction","volume":"3","author":"Banks","year":"2007","journal-title":"J. Clin. Sleep Med."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/21678421.2020.1788094","article-title":"Psychological Interventions for People with Motor Neuron Disease: A Scoping Review","volume":"22","author":"Zarotti","year":"2021","journal-title":"Amyotroph. Lateral Scler. Front. Degener."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1111\/papt.12321","article-title":"Psychological Interventions for People with Parkinson\u2019s Disease in the Early 2020s: Where Do We Stand?","volume":"94","author":"Zarotti","year":"2021","journal-title":"Psychol. Psychother. Theory Res. Pract."},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Zarotti, N., Eccles, F., Broyd, A., Longinotti, C., Mobley, A., and Simpson, J. (2022). Third Wave Cognitive Behavioural Therapies for People with Multiple Sclerosis: A Scoping Review. Disabil. Rehabil., 1\u201316.","DOI":"10.1080\/09638288.2022.2069292"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"231","DOI":"10.3233\/JHD-200418","article-title":"Psychological Interventions for People with Huntington\u2019s Disease: A Call to Arms","volume":"9","author":"Zarotti","year":"2020","journal-title":"JHD"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1093\/oxfordjournals.aje.a009241","article-title":"Insomnia in Young Men and Subsequent Depression: The Johns Hopkins Precursors Study","volume":"146","author":"Chang","year":"1997","journal-title":"Am. J. Epidemiol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.4088\/JCP.v66n1008","article-title":"Sleep and Depression","volume":"66","author":"Tsuno","year":"2005","journal-title":"J. Clin. Psychiatry"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"2324","DOI":"10.1111\/jcmm.14170","article-title":"Depression in Sleep Disturbance: A Review on a Bidirectional Relationship, Mechanisms and Treatment","volume":"23","author":"Fang","year":"2019","journal-title":"J. Cell Mol. Med."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.smrv.2005.11.001","article-title":"Sleep Loss, Learning Capacity and Academic Performance","volume":"10","author":"Curcio","year":"2006","journal-title":"Sleep Med. Rev."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1111\/ejn.14411","article-title":"Effect of Acute Total Sleep Deprivation on Plasma Melatonin, Cortisol and Metabolite Rhythms in Females","volume":"51","author":"Honma","year":"2020","journal-title":"Eur. J. Neurosci."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"2133","DOI":"10.1172\/JCI46043","article-title":"Circadian Rhythms, Sleep, and Metabolism","volume":"121","author":"Huang","year":"2011","journal-title":"J. Clin. Investig."},{"key":"ref_43","doi-asserted-by":"crossref","unstructured":"Wang, X., Cheng, S., and Xu, H. (2019). Systematic Review and Meta-Analysis of the Relationship between Sleep Disorders and Suicidal Behaviour in Patients with Depression. BMC Psychiatry, 19.","DOI":"10.1186\/s12888-019-2302-5"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1136\/jmg.30.4.293","article-title":"Suicide Risk in Huntington\u2019s Disease","volume":"30","author":"Squitieri","year":"1993","journal-title":"J. Med. Genet."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/ajmg.1320240211","article-title":"Suicide and Attempted Suicide in Huntington Disease: Implications for Preclinical Testing of Persons at Risk","volume":"24","author":"Farrer","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1017\/S1041610209009065","article-title":"Dementia and Suicidal Behavior: A Review of the Literature","volume":"21","author":"Haw","year":"2009","journal-title":"IPG"},{"key":"ref_47","doi-asserted-by":"crossref","unstructured":"Migliore, S., D\u2019Aurizio, G., Maffi, S., Ceccarelli, C., Ristori, G., Romano, S., Castaldo, A., Mariotti, C., Curcio, G., and Squitieri, F. (2021). Cognitive and Behavioral Associated Changes in Manifest Huntington Disease: A Retrospective Cross-sectional Study. Brain Behav., 11.","DOI":"10.1002\/brb3.2151"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1016\/S2215-0366(16)30144-4","article-title":"Changes in Mental State and Behaviour in Huntington\u2019s Disease","volume":"3","author":"Eddy","year":"2016","journal-title":"Lancet Psychiatry"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/s11910-010-0163-x","article-title":"Asymptomatic Sleep Abnormalities Are a Common Early Feature in Patients with Huntington\u2019s Disease","volume":"11","author":"Goodman","year":"2011","journal-title":"Curr. Neurol. Neurosci. Rep."}],"container-title":["Journal of Personalized Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4426\/12\/6\/864\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T23:18:19Z","timestamp":1760138299000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4426\/12\/6\/864"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,25]]},"references-count":49,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,6]]}},"alternative-id":["jpm12060864"],"URL":"https:\/\/doi.org\/10.3390\/jpm12060864","relation":{},"ISSN":["2075-4426"],"issn-type":[{"value":"2075-4426","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,25]]}}}