Journal of Huntington's disease最新文献

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Changes in 24(S)-Hydroxycholesterol Are Associated with Cognitive Performance in Early Huntington's Disease: Data from the TRACK and ENROLL HD Cohorts. 24(S)-羟基胆固醇的变化与早期亨廷顿氏症患者的认知能力有关:来自 TRACK 和 ENROLL HD 队列的数据。
IF 2.1
Journal of Huntington's disease Pub Date : 2024-09-05 DOI: 10.3233/JHD-240030
Sarah M Gray, Jing Dai, Anne C Smith, Jacob T Beckley, Negah Rahmati, Michael C Lewis, Michael C Quirk
{"title":"Changes in 24(S)-Hydroxycholesterol Are Associated with Cognitive Performance in Early Huntington's Disease: Data from the TRACK and ENROLL HD Cohorts.","authors":"Sarah M Gray, Jing Dai, Anne C Smith, Jacob T Beckley, Negah Rahmati, Michael C Lewis, Michael C Quirk","doi":"10.3233/JHD-240030","DOIUrl":"https://doi.org/10.3233/JHD-240030","url":null,"abstract":"<p><strong>Background: </strong>There is evidence for dysregulated cholesterol homeostasis in Huntington's disease (HD). The brain-specific cholesterol metabolite 24(S)-hydroxycholesterol (24(S)-OHC) is decreased in manifest HD. 24(S)-OHC is an endogenous positive allosteric modulator (PAM) of the N-methyl-D-aspartate (NMDA) receptor, suggesting lower 24(S)-OHC may contribute to NMDA receptor hypofunction in HD. We hypothesized changes in 24(S)-OHC would be associated with cognitive impairment in early HD.</p><p><strong>Objective: </strong>To determine the interactions between oxysterols (24(S)-OHC, 25-OHC, and 27-OHC) at the NMDA receptor, the plasma levels of these oxysterols, and how these levels relate to cognitive performance.</p><p><strong>Methods: </strong>An in vitro competition assay was used to evaluate interactions at the NMDA receptor, liquid chromatography coupled tandem mass spectrometry (LC-MS/MS) was used to measure plasma 24(S)-OHC, 25-OHC, and 27-OHC levels, and correlation analyses investigated their relationship to performance on cognitive endpoints in TRACK and ENROLL-HD (NCT01574053).</p><p><strong>Results: </strong>In vitro, 25-OHC and 27-OHC attenuated the PAM activity of 24(S)-OHC on the NMDA receptor. Lower plasma 24(S)-OHC levels and 24(S)/25-OHC ratios were detected in participants with early HD. Moderate and consistent associations were detected between plasma 24(S)/25-OHC ratio and performance on Stroop color naming, symbol digit modality, Trails A/B, and emotion recognition. Little association was observed between the ratio and psychiatric or motor endpoints, suggesting specificity for the relationship to cognitive performance.</p><p><strong>Conclusions: </strong>Our findings support growing evidence for dysregulated CNS cholesterol homeostasis in HD, demonstrate a relationship between changes in oxysterols and cognitive performance in HD, and propose that NMDA receptor hypofunction may contribute to cognitive impairment in HD.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
What Huntington's Disease Patients Say About Their Illness: An Online Direct-to-Participant Pilot Study. 亨廷顿氏病患者对疾病的看法:一项直接面向参与者的在线试点研究。
IF 2.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-231520
Karen E Anderson, Lakshmi Arbatti, Abhishek Hosamath, Andrew Feigin, Jody Goldstein, Elise Kayson, Brett L Kinsler, Lauren Falanga, Lynn Denise, Noelle E Carlozzi, Samuel Frank, Katie Jackson, Sandra Kostyk, Jennifer L Purks, Kenneth P Serbin, Shari Kinel, Christopher A Beck, Ira Shoulson
{"title":"What Huntington's Disease Patients Say About Their Illness: An Online Direct-to-Participant Pilot Study.","authors":"Karen E Anderson, Lakshmi Arbatti, Abhishek Hosamath, Andrew Feigin, Jody Goldstein, Elise Kayson, Brett L Kinsler, Lauren Falanga, Lynn Denise, Noelle E Carlozzi, Samuel Frank, Katie Jackson, Sandra Kostyk, Jennifer L Purks, Kenneth P Serbin, Shari Kinel, Christopher A Beck, Ira Shoulson","doi":"10.3233/JHD-231520","DOIUrl":"10.3233/JHD-231520","url":null,"abstract":"<p><strong>Background: </strong>Direct-to-participant online reporting facilitates the conduct of clinical research by increasing access and clinically meaningful patient engagement.</p><p><strong>Objective: </strong>We assessed feasibility of online data collection from adults with diagnosed Huntington's disease (HD) who directly reported their problems and impact in their own words.</p><p><strong>Methods: </strong>Data were collected online from consenting United States residents who self-identified as 1) having been diagnosed with Huntington's disease, 2) able to ambulate independently, and 3) self-sufficient for most daily needs. Data for this pilot study were collected using the Huntington Study Group myHDstory online research platform. The Huntington Disease Patient Report of Problems (HD-PROP), an open-ended questionnaire, was used to capture verbatim bothersome problems and functional impact. Natural language processing, human-in-the-loop curation of verbatim reports involving clinical and experience experts, and machine learning classified verbatim-reports into clinically meaningful symptoms.</p><p><strong>Results: </strong>All 8 questionnaires in the online pilot study were completed by 345 participants who were 60.9% men, 34.5±9.9 (mean±SD) years old, and 9.5±8.4 years since HD diagnosis. Racial self-identification was 46.4% Caucasian, 28.7% African American, 15.4% American Indian/Alaska Native, and 9.5% other. Accuracy of verbatim classification was 99%. Non-motor problems were the most frequently reported symptoms; depression and cognitive impairment were the most common.</p><p><strong>Conclusions: </strong>Online research participation was feasible for a diverse cohort of adults who self-reported an HD diagnosis and predominantly non-motor symptoms related to mood and cognition. Online research tools can help inform what bothers HD patients, identify clinically meaningful outcomes, and facilitate participation by diverse and under-represented populations.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"237-248"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140857282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gut Microbiota as a Modifier of Huntington's Disease Pathogenesis. 肠道微生物群是亨廷顿氏病发病机制的调节因子
IF 2.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240012
Ali Khoshnan
{"title":"Gut Microbiota as a Modifier of Huntington's Disease Pathogenesis.","authors":"Ali Khoshnan","doi":"10.3233/JHD-240012","DOIUrl":"10.3233/JHD-240012","url":null,"abstract":"<p><p>Huntingtin (HTT) protein is expressed in most cell lineages, and the toxicity of mutant HTT in multiple organs may contribute to the neurological and psychiatric symptoms observed in Huntington's disease (HD). The proteostasis and neurotoxicity of mutant HTT are influenced by the intracellular milieu and responses to environmental signals. Recent research has highlighted a prominent role of gut microbiota in brain and immune system development, aging, and the progression of neurological disorders. Several studies suggest that mutant HTT might disrupt the homeostasis of gut microbiota (known as dysbiosis) and impact the pathogenesis of HD. Dysbiosis has been observed in HD patients, and in animal models of the disease it coincides with mutant HTT aggregation, abnormal behaviors, and reduced lifespan. This review article aims to highlight the potential toxicity of mutant HTT in organs and pathways within the microbiota-gut-immune-central nervous system (CNS) axis. Understanding the functions of Wild-Type (WT) HTT and the toxicity of mutant HTT in these organs and the associated networks may elucidate novel pathogenic pathways, identify biomarkers and peripheral therapeutic targets for HD.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"133-147"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11307070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140904492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic Interventions for Spinocerebellar Ataxia and Huntington's Disease: A Qualitative Study of the Patient Perspective. 脊髓小脑共济失调症和亨廷顿舞蹈症的基因干预:对患者观点的定性研究。
IF 2.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240026
Nienke J H van Os, Mayke Oosterloo, Brigitte A B Essers, Janneke P C Grutters, Bart P C van de Warrenburg
{"title":"Genetic Interventions for Spinocerebellar Ataxia and Huntington's Disease: A Qualitative Study of the Patient Perspective.","authors":"Nienke J H van Os, Mayke Oosterloo, Brigitte A B Essers, Janneke P C Grutters, Bart P C van de Warrenburg","doi":"10.3233/JHD-240026","DOIUrl":"10.3233/JHD-240026","url":null,"abstract":"<p><strong>Background: </strong>For various genetic disorders characterized by expanded cytosine-adenine-guanine (CAG) repeats, such as spinocerebellar ataxia (SCA) subtypes and Huntington's disease (HD), genetic interventions are currently being tested in different clinical trial phases. The patient's perspective on such interventions should be included in the further development and implementation of these new treatments.</p><p><strong>Objective: </strong>To obtain insight into the thoughts and perspectives of individuals with SCA and HD on genetic interventions.</p><p><strong>Methods: </strong>In this qualitative study, participants were interviewed using semi-structured interview techniques. Topics discussed were possible risks and benefits, and logistic factors such as timing, location and expertise. Data were analyzed using a generic thematic analysis. Responses were coded into superordinate themes.</p><p><strong>Results: </strong>Ten participants (five with SCA and five with HD) were interviewed. In general, participants seemed to be willing to undergo genetic interventions. Important motives were the lack of alternative disease-modifying treatment options, the hope for slowing down disease progression, and preservation of current quality of life. Before undergoing genetic interventions, participants wished to be further informed. Logistic factors such as mode and frequency of administration, expertise of the healthcare provider, and timing of treatment are of influence in the decision-making process.</p><p><strong>Conclusions: </strong>This study identified assumptions, motives, and topics that require further attention before these new therapies, if proven effective, can be implemented in clinical practice. The results may help in the design of care pathways for genetic interventions for these and other rare genetic movement disorders.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"321-328"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11492111/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141537923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Towards Standardizing Nomenclature in Huntington's Disease Research. 实现亨廷顿氏病研究命名标准化。
IF 2.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240044
Marian DiFiglia, Blair R Leavitt, Douglas Macdonald, Leslie M Thompson
{"title":"Towards Standardizing Nomenclature in Huntington's Disease Research.","authors":"Marian DiFiglia, Blair R Leavitt, Douglas Macdonald, Leslie M Thompson","doi":"10.3233/JHD-240044","DOIUrl":"10.3233/JHD-240044","url":null,"abstract":"<p><p>The field of Huntington's disease research covers many different scientific disciplines, from molecular biology all the way through to clinical practice, and as our understanding of the disease has progressed over the decades, a great deal of different terminology has accrued. The field is also renowned for its collaborative spirit and use of standardized reagents, assays, datasets, models, and clinical measures, so the use of standardized terms is especially important. We have set out to determine, through a consensus exercise involving basic and clinical scientists working in the field, the most appropriate language to use across disciplines. Nominally, this article will serve as the style guide for the Journal of Huntington's Disease (JHD), the only journal devoted exclusively to HD, and we lay out the preferred and standardized terminology and nomenclature for use in JHD publications. However, we hope that this article will also serve as a useful resource to the HD research community at large and that these recommended naming conventions will be adopted widely.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":"13 2","pages":"119-131"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11307060/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141537925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of an Angiotensin IV Analog on 3-Nitropropionic Acid-Induced Huntington's Disease-Like Symptoms in Rats. 血管紧张素 IV 类似物对 3-硝基丙酸诱导的大鼠亨廷顿症样症状的影响
IF 3.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-231507
Russell G Wells, Azzam F Azzam, Amie L Hiller, Michael F Sardinia
{"title":"Effects of an Angiotensin IV Analog on 3-Nitropropionic Acid-Induced Huntington's Disease-Like Symptoms in Rats.","authors":"Russell G Wells, Azzam F Azzam, Amie L Hiller, Michael F Sardinia","doi":"10.3233/JHD-231507","DOIUrl":"10.3233/JHD-231507","url":null,"abstract":"<p><strong>Background: </strong>Huntington's disease (HD) is a neurodegenerative disorder characterized by motor, cognitive, and psychiatric dysfunction caused by a mutant huntingtin protein. Compromised metabolic activity resulting from systemic administration of the mitochondrial toxin, 3-nitropropionic acid (3-NP), is known to mimic the pathology of HD and induce HD-like symptoms in rats. N-hexanoic-Tyr-Ile-(6)-amino hexanoic amide (PNB-0408), also known as Dihexa, has been shown to have neuroprotective and procognitive properties in animal models of Alzheimer's and Parkinson's diseases. Given the mechanism of action and success in other neurodegenerative diseases, we felt it an appropriate compound to investigate further for HD.</p><p><strong>Objective: </strong>The present study was designed to test if PNB-0408, an angiotensin IV analog, could attenuate 3-NP-induced HD-like symptoms in rats and serve as a potential therapeutic agent.</p><p><strong>Methods: </strong>Forty male Wistar rats were randomized into three groups consisting of a \"vehicle\" group, a \"3-NP\" group, and a \"3-NP + PNB-0408\" group. PNB-0408 was administered along with chronic exposure to 3-NP. Animal body weight, motor function, and cognitive abilities were measured for five weeks, before euthanasia and histopathological analysis.</p><p><strong>Results: </strong>Exposure to 3-NP decreased the amount of weight rats gained, impaired spatial learning and memory consolidation, and led to marked motor dysfunction. From our observations and analysis, PNB-0408 did not protect rats from the deficits induced by 3-NP neurotoxicity.</p><p><strong>Conclusions: </strong>Our findings suggest that PNB-0408 may not be an efficacious treatment strategy for preventing 3-NP-induced HD-like symptoms in a preclinical model. These data highlight the need for further research of this compound in alternate models and/or alternative approaches to managing this disorder.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"55-66"},"PeriodicalIF":3.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140136908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Freesurfer Software Update Significantly Impacts Striatal Volumes in the Huntington's Disease Young Adult Study and Will Influence HD-ISS Staging. Freesurfer 软件更新显著影响亨廷顿氏病青年研究中的纹状体体积,并将影响 HD-ISS 分期。
IF 3.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-231512
Harry Knights, Annabelle Coleman, Nicola Z Hobbs, Sarah J Tabrizi, Rachael I Scahill
{"title":"Freesurfer Software Update Significantly Impacts Striatal Volumes in the Huntington's Disease Young Adult Study and Will Influence HD-ISS Staging.","authors":"Harry Knights, Annabelle Coleman, Nicola Z Hobbs, Sarah J Tabrizi, Rachael I Scahill","doi":"10.3233/JHD-231512","DOIUrl":"10.3233/JHD-231512","url":null,"abstract":"<p><strong>Background: </strong>The Huntington's Disease Integrated Staging System (HD-ISS) defined disease onset using volumetric cut-offs for caudate and putamen derived from FreeSurfer 6 (FS6). The impact of the latest software update (FS7) on volumes remains unknown. The Huntington's Disease Young Adult Study (HD-YAS) is appropriately positioned to explore differences in FS bias when detecting early atrophy.</p><p><strong>Objective: </strong>Explore the relationships and differences between raw caudate and putamen volumes, calculated total intracranial volumes (cTICV), and adjusted caudate and putamen volumes, derived from FS6 and FS7, in HD-YAS.</p><p><strong>Methods: </strong>Images from 123 participants were segmented and quality controlled. Relationships and differences between volumes were explored using intraclass correlation (ICC) and Bland-Altman analysis.</p><p><strong>Results: </strong>Across the whole cohort, ICC for raw caudate and putamen was 0.99, cTICV 0.93, adjusted caudate 0.87, and adjusted putamen 0.86 (all p < 0.0005). Compared to FS6, FS7 calculated: i) larger raw caudate (+0.8%, p < 0.00005) and putamen (+1.9%, p < 0.00005), with greater difference for larger volumes; and ii) smaller cTICV (-5.1%, p < 0.00005), with greater difference for smaller volumes. The systematic and proportional difference in cTICV was greater than raw volumes. When raw volumes were adjusted for cTICV, these effects compounded (adjusted caudate +7.0%, p < 0.00005; adjusted putamen +8.2%, p < 0.00005), with greater difference for larger volumes.</p><p><strong>Conclusions: </strong>As new software is released, it is critical that biases are explored since differences have the potential to significantly alter the findings of HD trials. Until conversion factors are defined, the HD-ISS must be applied using FS6. This should be incorporated into the HD-ISS online calculator.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"77-90"},"PeriodicalIF":3.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140136909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mono- and Biallelic Inactivation of Huntingtin Gene in Patient-Specific Induced Pluripotent Stem Cells Reveal HTT Roles in Striatal Development and Neuronal Functions. 患者特异性诱导多能干细胞中亨廷汀基因的单拷贝和双拷贝失活揭示了 HTT 在纹状体发育和神经元功能中的作用。
IF 3.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-231509
Morgane Louessard, Michel Cailleret, Margot Jarrige, Julie Bigarreau, Sophie Lenoir, Noëlle Dufour, Maria Rey, Frédéric Saudou, Nicole Deglon, Anselme L Perrier
{"title":"Mono- and Biallelic Inactivation of Huntingtin Gene in Patient-Specific Induced Pluripotent Stem Cells Reveal HTT Roles in Striatal Development and Neuronal Functions.","authors":"Morgane Louessard, Michel Cailleret, Margot Jarrige, Julie Bigarreau, Sophie Lenoir, Noëlle Dufour, Maria Rey, Frédéric Saudou, Nicole Deglon, Anselme L Perrier","doi":"10.3233/JHD-231509","DOIUrl":"10.3233/JHD-231509","url":null,"abstract":"<p><strong>Background: </strong>Mutations in the Huntingtin (HTT) gene cause Huntington's disease (HD), a neurodegenerative disorder. As a scaffold protein, HTT is involved in numerous cellular functions, but its normal and pathogenic functions during human forebrain development are poorly understood.</p><p><strong>Objective: </strong>To investigate the developmental component of HD, with a specific emphasis on understanding the functions of wild-type and mutant HTT alleles during forebrain neuron development in individuals carrying HD mutations.</p><p><strong>Methods: </strong>We used CRISPR/Cas9 gene-editing technology to disrupt the ATG region of the HTT gene via non-homologous end joining to produce mono- or biallelic HTT knock-out human induced pluripotent stem cell (iPSC) clones.</p><p><strong>Results: </strong>We showed that the loss of wild-type, mutant, or both HTT isoforms does not affect the pluripotency of iPSCs or their transition into neural cells. However, we observed that HTT loss causes division impairments in forebrain neuro-epithelial cells and alters maturation of striatal projection neurons (SPNs) particularly in the acquisition of DARPP32 expression, a key functional marker of SPNs. Finally, young post-mitotic neurons derived from HTT-/- human iPSCs display cellular dysfunctions observed in adult HD neurons.</p><p><strong>Conclusions: </strong>We described a novel collection of isogenic clones with mono- and biallelic HTT inactivation that complement existing HD-hiPSC isogenic series to explore HTT functions and test therapeutic strategies in particular HTT-lowering drugs. Characterizing neural and neuronal derivatives from human iPSCs of this collection, we show evidence that HTT loss or mutation has impacts on neuro-epithelial and striatal neurons maturation, and on basal DNA damage and BDNF axonal transport in post-mitotic neurons.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"41-53"},"PeriodicalIF":3.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11091579/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140012734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical Review of Juvenile Huntington's Disease. 青少年亨廷顿氏病临床回顾。
IF 2.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-231523
Mayke Oosterloo, Alexiane Touze, Lauren M Byrne, Jannis Achenbach, Hande Aksoy, Annabelle Coleman, Dawn Lammert, Martha Nance, Peggy Nopoulos, Ralf Reilmann, Carsten Saft, Helen Santini, Ferdinando Squitieri, Sarah Tabrizi, Jean-Marc Burgunder, Oliver Quarrell
{"title":"Clinical Review of Juvenile Huntington's Disease.","authors":"Mayke Oosterloo, Alexiane Touze, Lauren M Byrne, Jannis Achenbach, Hande Aksoy, Annabelle Coleman, Dawn Lammert, Martha Nance, Peggy Nopoulos, Ralf Reilmann, Carsten Saft, Helen Santini, Ferdinando Squitieri, Sarah Tabrizi, Jean-Marc Burgunder, Oliver Quarrell","doi":"10.3233/JHD-231523","DOIUrl":"10.3233/JHD-231523","url":null,"abstract":"<p><p> Juvenile Huntington's disease (JHD) is rare. In the first decade of life speech difficulties, rigidity, and dystonia are common clinical motor symptoms, whereas onset in the second decade motor symptoms may sometimes resemble adult-onset Huntington's disease (AOHD). Cognitive decline is mostly detected by declining school performances. Behavioral symptoms in general do not differ from AOHD but may be confused with autism spectrum disorder or attention deficit hyperactivity disorder and lead to misdiagnosis and/or diagnostic delay. JHD specific features are epilepsy, ataxia, spasticity, pain, itching, and possibly liver steatosis. Disease progression of JHD is faster compared to AOHD and the disease duration is shorter, particularly in case of higher CAG repeat lengths. The diagnosis is based on clinical judgement in combination with a positive family history and/or DNA analysis after careful consideration. Repeat length in JHD is usually > 55 and caused by anticipation, usually via paternal transmission. There are no pharmacological and multidisciplinary guidelines for JHD treatment. Future perspectives for earlier diagnosis are better diagnostic markers such as qualitative MRI and neurofilament light in serum.</p>","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"149-161"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11307030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140856129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neuroimaging to Facilitate Clinical Trials in Huntington's Disease: Current Opinion from the EHDN Imaging Working Group. 神经成像促进亨廷顿氏病的临床试验:EHDN成像工作组的当前观点。
IF 2.1
Journal of Huntington's disease Pub Date : 2024-01-01 DOI: 10.3233/JHD-240016
Nicola Z Hobbs, Marina Papoutsi, Aline Delva, Kirsi M Kinnunen, Mitsuko Nakajima, Koen Van Laere, Wim Vandenberghe, Priyantha Herath, Rachael I Scahill
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