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1.
J Huntingtons Dis ; 13(2): 119-131, 2024.
Article de Anglais | MEDLINE | ID: mdl-38968054

RÉSUMÉ

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.


Sujet(s)
Maladie de Huntington , Terminologie comme sujet , Maladie de Huntington/classification , Maladie de Huntington/diagnostic , Humains , Recherche biomédicale/normes
3.
Arch Med Res ; 55(4): 103004, 2024 Jun.
Article de Anglais | MEDLINE | ID: mdl-38714041

RÉSUMÉ

INTRODUCTION: Huntington's disease (HD) is a genetic neurodegenerative disorder with dominant inheritance. Our center in Mexico City has offered presymptomatic testing (PT) since 1995. OBJECTIVE: To describe the main clinical and demographic characteristics of at-risk HD individuals who applied to the PT program, the reasons for seeking it, and the molecular results. METHODS: A cross-sectional study was conducted with sociodemographic and clinical data of all PT applicants from 1995-2023. Reasons for seeking PT were assessed using a modified questionnaire. In addition, anxiety, and depressive symptoms before and after PT were evaluated with Beck's instruments; cognitive impairment (CI) was assessed with the Mini-Mental State Examination (MMSE) and molecular results. RESULTS: 214 people applied for PT (2.1% of the at-risk population identified in our center); 63% were women (mean age of 37.11 years). 204 (95.3%) were accepted and 190 received results. 70% indicated that the main reason for applying for PT was to inform their offspring about the risk of inheriting HD. Significant differences were observed in the reasons for seeking PT by age group. Although some subjects received treatment, Beck's instrument scores did not indicate special attention or pharmacological treatment. The MMSE showed probable CI in 20 subjects. Of those who received results, 37% were carriers of a full penetrance allele. CONCLUSION: Our center has the only formal PT program for HD in Mexico. The reasons for seeking PT are varied and age-related. Although PT is offered to all subjects at risk for HD, uptake remains low.


Sujet(s)
Maladie de Huntington , Humains , Maladie de Huntington/génétique , Maladie de Huntington/diagnostic , Maladie de Huntington/épidémiologie , Femelle , Mâle , Adulte , Mexique/épidémiologie , Études transversales , Adulte d'âge moyen , Dépistage génétique , Jeune adulte
4.
Article de Anglais | MEDLINE | ID: mdl-38819972

RÉSUMÉ

In Huntington's disease (HD), wearable inertial sensors could capture subtle changes in motor function. However, disease-specific validation of methods is necessary. This study presents an algorithm for walking bout and gait event detection in HD using a leg-worn accelerometer, validated only in the clinic and deployed in free-living conditions. Seventeen HD participants wore shank- and thigh-worn tri-axial accelerometers, and a wrist-worn device during two-minute walk tests in the clinic, with video reference data for validation. Thirteen participants wore one of the thigh-worn tri-axial accelerometers (AP: ActivPAL4) and the wrist-worn device for 7 days under free-living conditions, with proprietary AP data used as reference. Gait events were detected from shank and thigh acceleration using the Teager-Kaiser energy operator combined with unsupervised clustering. Estimated step count (SC) and temporal gait parameters were compared with reference data. In the clinic, low mean absolute percentage errors were observed for stride (shank/thigh: 0.6/0.9%) and stance (shank/thigh: 3.3/7.1%) times, and SC (shank/thigh: 3.1%). Similar errors were observed for proprietary AP SC (3.2%), with higher errors observed for the wrist-worn device (10.9%). At home, excellent agreement was observed between the proposed algorithm and AP software for SC and time spent walking (ICC [Formula: see text]). The wrist-worn device overestimated SC by 34.2%. The presented algorithm additionally allowed stride and stance time estimation, whose variability correlated significantly with clinical motor scores. The results demonstrate a new method for accurate estimation of HD gait parameters in the clinic and free-living conditions, using a single accelerometer worn on either the thigh or shank.


Sujet(s)
Accélérométrie , Algorithmes , Troubles neurologiques de la marche , Maladie de Huntington , Dispositifs électroniques portables , Humains , Maladie de Huntington/physiopathologie , Maladie de Huntington/diagnostic , Mâle , Femelle , Adulte d'âge moyen , Accélérométrie/instrumentation , Adulte , Reproductibilité des résultats , Troubles neurologiques de la marche/physiopathologie , Troubles neurologiques de la marche/diagnostic , Troubles neurologiques de la marche/étiologie , Troubles neurologiques de la marche/rééducation et réadaptation , Démarche/physiologie , Conception d'appareillage , Sujet âgé , Surveillance électronique ambulatoire/instrumentation , Surveillance électronique ambulatoire/méthodes , Poignet , Marche à pied/physiologie , Phénomènes biomécaniques , Sensibilité et spécificité
5.
J Huntingtons Dis ; 13(2): 249-257, 2024.
Article de Anglais | MEDLINE | ID: mdl-38759020

RÉSUMÉ

Background: Huntington's disease (HD) is a neurodegenerative disorder marked by cognitive impairment, movement abnormalities, and behavioral disturbances. The Stroop Color Word Test (SCWT) is a widely used tool to detect cognitive decline in HD. Variations in SCWT formats-horizontal (original) and vertical (Golden)-may influence performance, given HD's impact on cognitive and oculomotor abilities. Objective: This study aimed to compare the effectiveness of the horizontal and Golden vertical SCWT formats in detecting cognitive decline in HD, and to determine how performance may have been influenced by eye movement abnormalities. Methods: Forty-five participants with genetically confirmed HD were recruited. Both SCWT formats were administered to each participant in a counterbalanced fashion. Individual performance of all three sections on each format was standardized across 2 different norms. Raw and normed scores on each variation were compared and correlated with eye movement ratings on the Unified Huntington's Disease Rating Scale. Results: The Golden variation elicited significantly slower responses, particularly in the Word Reading section, across two benchmark norms. Statistical analysis revealed significant performance differences between the two formats. Correlations between vertical eye movement ratings and performance on the Golden SCWT were highly significant, highlighting the impact of oculomotor coordination on cognitive assessments in HD. Conclusion: This study underscores the importance of considering test format in cognitive assessments for HD. The Golden vertical SCWT demonstrates increased sensitivity in detecting deficits in HD, possibly linked to vertical saccade abnormalities. These insights are important for improving the sensitivity of cognitive assessments and monitoring disease progression in HD research and clinical practice.


Sujet(s)
Dysfonctionnement cognitif , Maladie de Huntington , Test de Stroop , Humains , Maladie de Huntington/physiopathologie , Maladie de Huntington/complications , Maladie de Huntington/diagnostic , Mâle , Femelle , Adulte d'âge moyen , Dysfonctionnement cognitif/physiopathologie , Dysfonctionnement cognitif/étiologie , Dysfonctionnement cognitif/diagnostic , Adulte , Sujet âgé , Mouvements oculaires/physiologie
6.
J Huntingtons Dis ; 13(2): 149-161, 2024.
Article de Anglais | MEDLINE | ID: mdl-38669553

RÉSUMÉ

 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.


Sujet(s)
Maladie de Huntington , Humains , Maladie de Huntington/diagnostic , Maladie de Huntington/génétique , Adolescent , Enfant , Évolution de la maladie , Âge de début
8.
Parkinsonism Relat Disord ; 123: 106087, 2024 Jun.
Article de Anglais | MEDLINE | ID: mdl-38640832

RÉSUMÉ

INTRODUCTION: Irritability, a common neuropsychiatric symptom in Huntington's disease (HD), lacks a standardized measurement. The Irritability Scale (IS), tailored for HD, has patient and informant versions, but variable interrater agreement has been reported frequently in previous studies. To enhance the clinical utility of the IS, this study aimed to identify the most reliable components estimating the underlying construct and develop a shortened version for time-limited contexts. METHODS: Participant and informant/observer concordance and the relationship of individual items to the complete IS scale were assessed. The short-form (SF) items were selected based on interrater agreement, exploratory factor analysis (EFA), and Item Response Theory (IRT) analysis results. Pair-wise correlation and covariance models were used to examine how SF predicted total IS score in 106 participants from the STAIR (Safety, Tolerability, and Activity of SRX246 in Irritable Subjects with Huntington's Disease) trial. Item Response Theory (IRT) analysis was used to evaluate the range and function of the selected items. RESULTS: IS interrater agreement was statistically significant (r = 0.33, p = .001). In combination with EFA factors and IRT analyses, five items were identified that showed good reliability and performance in differentiating levels of irritability. CONCLUSION: The proposed 5-item SF IS provided a reliable measure of the full scale and may be less burdensome for use in a clinical setting.


Sujet(s)
Agressivité , Maladie de Huntington , Humeur irritable , Humains , Maladie de Huntington/diagnostic , Maladie de Huntington/complications , Humeur irritable/physiologie , Mâle , Femelle , Adulte d'âge moyen , Adulte , Agressivité/physiologie , Sujet âgé , Échelles d'évaluation en psychiatrie/normes , Reproductibilité des résultats
9.
Am J Speech Lang Pathol ; 33(3): 1390-1405, 2024 May.
Article de Anglais | MEDLINE | ID: mdl-38530396

RÉSUMÉ

PURPOSE: Changes in voice and speech are characteristic symptoms of Huntington's disease (HD). Objective methods for quantifying speech impairment that can be used across languages could facilitate assessment of disease progression and intervention strategies. The aim of this study was to analyze acoustic features to identify language-independent features that could be used to quantify speech dysfunction in English-, Spanish-, and Polish-speaking participants with HD. METHOD: Ninety participants with HD and 83 control participants performed sustained vowel, syllable repetition, and reading passage tasks recorded with previously validated methods using mobile devices. Language-independent features that differed between HD and controls were identified. Principal component analysis (PCA) and unsupervised clustering were applied to the language-independent features of the HD data set to identify subgroups within the HD data. RESULTS: Forty-six language-independent acoustic features that were significantly different between control participants and participants with HD were identified. Following dimensionality reduction using PCA, four speech clusters were identified in the HD data set. Unified Huntington's Disease Rating Scale (UHDRS) total motor score, total functional capacity, and composite UHDRS were significantly different for pairwise comparisons of subgroups. The percentage of HD participants with higher dysarthria score and disease stage also increased across clusters. CONCLUSION: The results support the application of acoustic features to objectively quantify speech impairment and disease severity in HD in multilanguage studies. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25447171.


Sujet(s)
Maladie de Huntington , Acoustique de la voix , Mesures de production de la parole , Humains , Maladie de Huntington/diagnostic , Maladie de Huntington/complications , Mâle , Femelle , Adulte d'âge moyen , Adulte , Études cas-témoins , Sujet âgé , Dysarthrie/diagnostic , Dysarthrie/étiologie , Dysarthrie/physiopathologie , Analyse en composantes principales , Qualité de la voix , Troubles de la parole/diagnostic , Troubles de la parole/étiologie , Valeur prédictive des tests
10.
Rev. neurol. (Ed. impr.) ; 78(5): 135-138, 1-15 de Mar. 2024. tab, graf, ilus
Article de Anglais, Espagnol | IBECS | ID: ibc-231051

RÉSUMÉ

Introducción La enfermedad de Huntington (EH) es una enfermedad de herencia autosómica dominante caracterizada por la expansión de tripletes de citosina-adenina-guanina (CAG) en el gen que codifica la huntingtina. Los síntomas en la descendencia suelen ser más tempranos por el fenómeno de anticipación. La clínica de inicio en la infancia, antes de los 10 años, difiere de la observada en la adultez. Se manifiesta por afectación motora, dificultades conductuales y retraso o regresión del desarrollo. La corea es infrecuente. El objetivo del caso es describir aspectos clínicos de una paciente con EH de inicio infantil. Caso clínico Niña de 5 años con antecedentes familiares de EH y desarrollo típico hasta los 3 años. Presentó progresivamente afectación del lenguaje con habilidades descendidas para su edad en aspectos expresivos y comprensivos, sin afectación en las habilidades pragmáticas y sociales. En cuanto a la motricidad, la marcha y la bipedestación eran inestables, y mostraba rigidez, distonía y movimientos coreicos. Presentó atrofia de los núcleos lenticulares y caudados en la resonancia magnética, y posteriormente se realizó el diagnóstico molecular con la expansión de tripletes CAG (51 copias). Conclusión La EH de inicio en la infancia presenta manifestaciones clínicas distintas a la forma del adulto. Debe considerarse en pacientes con afectación motora y cognitiva progresiva. Por la herencia familiar, es importante interrogar cuidadosamente sobre los antecedentes familiares y tenerla en cuenta aun sin familiares afectados por el fenómeno de anticipación. (AU)


INTRODUCTIO NHuntington’s disease (HD) is a rare autosomal dominant disease caused by the expansion of CAG triplets in the gene that encodes huntingtin. There are earlier symptoms’ onset in offspring due to the phenomenon of anticipation. The clinical features of childhood-onset HD, before age 10 years, differs from adult-onset form. It is characterized by motor impairment, behavioral difficulties and delay or regression in areas of development; while chorea is rarely seen. In this case we describe clinical aspects of a patient with childhood-onset Huntington’s disease. CASE REPORT A 5-year-old girl with a family history of HD and typical development up to 3 years of age. She progressively acquired language impairment with skills that were below her age in expressive and receptive areas, without deficits in pragmatic and social skills. Regarding motor skills, she manifested instability at walking and standing, with rigidity, dystonia and choreic movements. Atrophy of the basal ganglia was evident on MRI, EEG was normal, and molecular confirmation of CAG triplet revealed repeat length of 51 copies. CONCLUSION. Childhood-onset HD differs from adult-form´s clinical manifestations. It should be considered in patients with progressive motor and cognitive impairment. Due to family inheritance, it is important to carefully examine family history and take it into account even without relatives affected, considering the anticipation phenomenon. (AU)


Sujet(s)
Humains , Femelle , Enfant d'âge préscolaire , Maladie de Huntington/diagnostic , Maladie de Huntington/génétique , Maladies neurodégénératives héréditaires , Pédiatrie , Troubles du développement neurologique , Troubles du développement du langage , Troubles neurologiques de la marche
11.
Neurobiol Dis ; 193: 106442, 2024 Apr.
Article de Anglais | MEDLINE | ID: mdl-38382884

RÉSUMÉ

Current research efforts on neurodegenerative diseases are focused on identifying novel and reliable biomarkers for early diagnosis and insight into disease progression. Salivary analysis is gaining increasing interest as a promising source of biomarkers and matrices for measuring neurodegenerative diseases. Saliva collection offers multiple advantages over the currently detected biofluids as it is easily accessible, non-invasive, and repeatable, allowing early diagnosis and timely treatment of the diseases. Here, we review the existing findings on salivary biomarkers and address the potential value in diagnosing neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, Huntington's disease and Amyotrophic lateral sclerosis. Based on the available research, ß-amyloid, tau protein, α-synuclein, DJ-1, Huntington protein in saliva profiles display reliability and validity as the biomarkers of neurodegenerative diseases.


Sujet(s)
Maladie d'Alzheimer , Maladie de Huntington , Maladies neurodégénératives , Maladie de Parkinson , Humains , Maladies neurodégénératives/diagnostic , Reproductibilité des résultats , Maladie de Parkinson/métabolisme , Maladie de Huntington/diagnostic , Marqueurs biologiques
12.
Tijdschr Psychiatr ; 66(1): 51-54, 2024.
Article de Néerlandais | MEDLINE | ID: mdl-38380489

RÉSUMÉ

The differential diagnosis of chorea encompasses a broad range of disorders. In psychiatry, tardive dyskinesia may be difficult to discern from other causes, particularly when the family history is negative. A 59-year-old man with an unclear medical history had been using risperidone for over a decade when we first saw him. He presented with severe dyskinesia in all extremities. The family history for neuropsychiatric disorders was negative. We interpreted the movement disorder as tardive dyskinesia, but later he turned out to suffer from Huntington’s disease. To improve diagnostic accuracy, we should have more frequently re-evaluated the differential diagnosis and our family history should have been more thorough. We outline the diagnostic considerations in patients presenting with chorea. Finally, we highlight the value of diagnostic re-evaluation and thorough family history taking to optimize diagnostic accuracy in neuropsychiatry.


Sujet(s)
Chorée , Maladie de Huntington , Troubles de la motricité , Dyskinésie tardive , Mâle , Humains , Adulte d'âge moyen , Chorée/diagnostic , Chorée/génétique , Maladie de Huntington/diagnostic , Maladie de Huntington/génétique , Rispéridone
13.
Ann Clin Transl Neurol ; 11(4): 989-999, 2024 Apr.
Article de Anglais | MEDLINE | ID: mdl-38356101

RÉSUMÉ

OBJECTIVE: Huntington's disease (HD) is an inherited neurodegenerative disease involving progressive motor abnormalities, cognitive decline, and psychiatric disturbances. Depression and cognitive difficulties are among the most impactful symptoms of HD, yet the pathogenesis of these symptoms is not fully understood. HD involves low-level chronic inflammation and dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis, which are linked to depression and cognitive impairment in non-HD populations. However, previous research on the relationships of these pathologies with depression and cognition in HD is limited and inconsistent. METHODS: Fifty-three adults with the HD gene expansion (30 premanifest and 23 manifest) completed measures of depression and cognitive functioning. Forty-eight out of 53 participants provided hair samples for quantification of cortisol, and 34 participants provided blood samples for quantification of peripheral inflammatory cytokines. We examined the associations of four cytokines (interleukin [IL]-6, IL-10, IL-1ß, and tumor necrosis factor [TNF]-α) and cortisol levels with depression and cognitive scores. RESULTS: In unadjusted models, higher levels of plasma IL-6, IL-10, and TNF-α correlated with higher depression scores, and higher levels of IL-10 and TNF-α correlated with poorer cognitive performance. After controlling for age, sex, and body mass index, only the correlations of IL-10 with depression and cognitive performance remained significant. No correlations were evident with hair cortisol. INTERPRETATIONS: Peripheral inflammation is associated with depression symptoms and cognitive impairment in HD. Our findings suggest that interactions between the immune and nervous systems are important in HD, and highlight the potential of chronic inflammation as a therapeutic target in early stages of HD.


Sujet(s)
Maladie de Huntington , Maladies neurodégénératives , Adulte , Humains , Maladie de Huntington/diagnostic , Cytokines , Hydrocortisone , Interleukine-10 , Facteur de nécrose tumorale alpha , Interleukine-6 , Inflammation
14.
Psychiatr Genet ; 34(1): 15-18, 2024 Feb 01.
Article de Anglais | MEDLINE | ID: mdl-38190229

RÉSUMÉ

INTRODUCTION: Huntington's disease (HD) stands as an inherited and progressive neurodegenerative ailment distinguished by chorea-esque movement patterns, which manifest as archetypal symptoms. The presence of pronounced psychiatric onset symptoms in patients can considerably amplify the intricacies of accurate diagnosis. CASE PRESENTATION: A 43-year-old gentleman was admitted with a five-year chronicle of delusions, hallucinations, and irritability. He had previously received a diagnosis of schizophrenia and had been subjected to a regimen of antipsychotic medications for a span exceeding four years. However, subsequent to the application of cerebral MRI and genetic testing, his condition was conclusively redetermined as HD. CONCLUSION: The salient attribute of this case resides in the deferred diagnosis of HD attributable to the presence of acute psychiatric initial symptoms, a scenario bearing noteworthy ramifications for disease oversight and prognostication. This instance warrants attentive scrutiny and discourse within the professional community.


Sujet(s)
Maladie de Huntington , Mâle , Humains , Adulte , Maladie de Huntington/diagnostic , Maladie de Huntington/génétique , Hallucinations , Dépistage génétique
15.
Mov Disord Clin Pract ; 11(4): 363-372, 2024 Apr.
Article de Anglais | MEDLINE | ID: mdl-38264920

RÉSUMÉ

BACKGROUND: Cognitive changes in Huntington's disease (HD) precede motor manifestations. ENROLL-HD platform includes four cognitive measures of information processing speed (IPS). Our group is eager to seek clinical markers in the life stage that is as close as possible to the age of onset (ie, the so called prodromal HD phase) because this is the best time for therapeutic interventions. OBJECTIVES: Our study aimed to test whether cognitive scores in prodromal ENROLL-HD mutation carriers show the potential to predict the severity of motor and behavioral changes once HD became fully manifested. METHODS: From the global ENROLL-HD cohort of 21,343 participants, we first selected a premanifest Cohort#1 (ie, subjects with Total Motor Score (TMS) <10 and Diagnostic Confidence Level (DCL) <4, N = 1.222). From this cohort, we then focused on a prodromal Cohort#2 of subjects who were ascertained to phenoconvert into manifest HD at follow-up visits (ie, subjects from 6 ≤ TMS≤9 and DCL <4 to TMS≥10 and DCL = 4, n = 206). RESULTS: The main results of our study showed that low IPS before phenoconversion in Cohort#2 predicted the severity of motor and behavioral manifestations. By combining the four IPS cognitive measures (eg, the Categorical Verbal Fluency Test; Stroop Color Naming Test; Stroop Word Reading; Symbol Digit Modalities Test), we generated a Composite Cognition Score (CCS). The lower the CCS score the higher the TMS and the apathy scores in the same longitudinally followed-up patients after phenoconversion. CONCLUSIONS: CCS might represent a clinical instrument to predict the prognosis of mutation carriers who are close to manifesting HD.


Sujet(s)
Maladie de Huntington , Humains , Études longitudinales , Études rétrospectives , Pronostic , Maladie de Huntington/diagnostic , Évolution de la maladie , Cognition
17.
J Laryngol Otol ; 138(3): 315-320, 2024 Mar.
Article de Anglais | MEDLINE | ID: mdl-37470108

RÉSUMÉ

BACKGROUND: Olfaction has recently found clinical value in prediction, discrimination and prognosis of some neurodegenerative disorders. However, data originating from standard tests on olfactory dysfunction in Huntington's disease are limited to odour identification, which is only one domain of olfactory perceptual space. METHOD: Twenty-five patients and 25 age- and gender-matched controls were evaluated by the Sniffin' Sticks test in three domains of odour threshold, odour discrimination, odour identification and the sum score of them. Patients' motor function was assessed based on the Unified Huntington's Disease Rating Scale. RESULTS: Compared with controls, patients' scores of all olfactory domains and their sum were significantly lower. Besides, our patients' odour threshold and odour discrimination impairments were more frequently impaired than odour identification impairment (86 per cent and 81 per cent vs 34 per cent, respectively). CONCLUSION: Olfactory impairment is a common finding in patients with Huntington's disease; it is not limited to odour identification but is more pronounced in odour discrimination and odour threshold.


Sujet(s)
Maladie de Huntington , Troubles de l'olfaction , Humains , Odorat , Odorisants , Maladie de Huntington/complications , Maladie de Huntington/diagnostic , Troubles de l'olfaction/diagnostic , Troubles de l'olfaction/étiologie , Seuils sensoriels
18.
Altern Ther Health Med ; 30(2): 68-75, 2024 Feb.
Article de Anglais | MEDLINE | ID: mdl-37883773

RÉSUMÉ

Huntington's disease (HD) is an autosomal neurodegenerative disease that involves movement disorders, cognitive impairments, and psychiatric symptoms. It is characterized by regionally selective cortical degeneration that proceeds from posterior to anterior cortical region which explains its heterogeneity. At present, the psychiatric symptoms of HD are mostly managed by antidepressant such as selective serotonin reuptake inhibitors or selective nor-epinephrine reuptake inhibitors, and atypical antipsychotics. Currently, there are no efficient pharmacological treatment available for HD. Thus, in order to avoid this void in effective pharmacotherapy, further supplemental and alternative approaches are being explored for the management of problems associated with HD. A literature review was performed using the databases PubMed and Google Scholar identifying clinical studies that were set to ameliorate the symptoms associated with HD. On critical analysis, it was found that alternative treatment modalities like music therapy, video games, Yoga, Physical therapy, and exercise-based programs have a potential and possible role in improving the symptoms of HD at varied degrees.


Sujet(s)
Dysfonctionnement cognitif , Maladie de Huntington , Maladies neurodégénératives , Humains , Maladie de Huntington/diagnostic , Maladie de Huntington/traitement médicamenteux , Exercice physique
19.
Neurol Sci ; 45(3): 1079-1086, 2024 Mar.
Article de Anglais | MEDLINE | ID: mdl-37770762

RÉSUMÉ

BACKGROUND: This study is aimed at assessing the clinimetric properties and feasibility of the Italian version of the Montreal Cognitive Assessment (MoCA) in patients with Huntington's disease (HD). METHODS: N = 39 motor-manifest HD patients, N = 74 Parkinson's disease (PD) patients and N = 92 matched HCs were administered the MoCA. HD patients further underwent the Unified Huntington's Disease Rating Scale (UHDRS), self-report questionnaires for anxiety and depression and a battery of first- and second-level cognitive tests. Construct validity was tested against cognitive and behavioural/psychiatric measures, whereas ecological validity against motor-functional subscales of the UHDRS. Sensitivity to disease severity was tested, via a logistic regression, by exploring whether the MoCA discriminated between patients in Shoulson-Fahn stage ≤ 2 vs. > 2. The same analysis was employed to test its ability to discriminate HD patients from HCs and PD patients. RESULTS: The MoCA converged towards cognitive and behavioural measures but diverged from psychiatric ones, being also associated with motor/functional measures from the UHDRS. In identifying patients with cognitive impairment, adjusted MoCA scores were highly accurate (AUC = .92), yielding optimal diagnostics at the cut-off of < 19.945 (J = .78). The MoCA was able to discriminate patients in the middle-to-advanced from those in the early-to-middle stages of the disease (p = .037), as well as to differentiate HD patients from both HCs (p < .001) and PD patients (p < .001). CONCLUSIONS: The MoCA is a valid, diagnostically sound and feasible cognitive screener in motor-manifest HD patients, whose adoption is thus encouraged in clinical practice and research.


Sujet(s)
Dysfonctionnement cognitif , Maladie de Huntington , Humains , Maladie de Huntington/complications , Maladie de Huntington/diagnostic , Études de faisabilité , Dysfonctionnement cognitif/étiologie , Dysfonctionnement cognitif/complications , Tests de l'état mental et de la démence , Tests neuropsychologiques , Italie
20.
Rev Neurol ; 78(1): 17-25, 2024 Jan 01.
Article de Espagnol, Anglais | MEDLINE | ID: mdl-38112653

RÉSUMÉ

INTRODUCTION: Huntington´s disease (HD) is a rare neurodegenerative disorder. Reliable information about nutritional status, especially body composition from individuals with HD is critical for clinical care and research. The ease of application and portability of multiple frequencies bioelectrical impedance analysis (mfBIA) make it an attractive tool for measuring body composition, but its accuracy in HD is unknown. AIM: To evaluate the accuracy of mfBIA vs. Dual X-ray absorptiometry (DEXA) in HD. PATIENTS AND METHODS: Cross-sectional, observational, and single-center study. HD severity was measured using motor subscale of the unified Huntington´s disease rating scale (m-UHDRS) and the total functional capacity (TFC). Body composition was measured in terms of fat-free mass (FFM), fat mass (FM), fat-free mass index (FFMI), and fat mass index (FMI). Using Bland-Altman plots, we analyzed reliability between DEXA and mfBIA using the Intraclass Correlation Coefficient with 95% confidence intervals (CI) and bias estimates for all. RESULTS: We included 16 patients with HD, 7 men, and 9 women, median age of 58.5 (32;68) years, TFC: 10 (3;13), and m-UHDRS: 31 (7;85). The reliability between mfBIA and DEXA were high for FFMI in men: 0.88 (95% CI 0.17-0.98), and women: 0.90 (95% CI 0.61- 0.98); for FMI, men: 0.97 (95% CI 0.83-0.99), and women: 0.91 (95% CI 0.68-0.98). Compared to DEXA, mfBIA slightly overestimated FFM, FM, FMI and FFMI in men and underestimated FFMI in women. CONCLUSIONS: mfBIA is an easy-to-use, safe, non-invasive, accurate method for measuring body composition and nutritional status in patients with mild-moderate HD.


TITLE: Cómo estimar la composición corporal en la enfermedad de Huntington. Estudio transversal y observacional con bioimpedancia de múltiples frecuencias.Introducción. La enfermedad de Huntington (EH) es un trastorno raro neurodegenerativo. La información fiable del estado nutricional, especialmente de la composición corporal, es crítica en clínica y en investigación. La facilidad de aplicación y portabilidad del análisis de la bioimpedancia de múltiples frecuencias (mfBIA) la convierten en una herramienta atractiva para medirla, pero se desconoce su precisión en la EH. Objetivo. Evaluar la precisión del mfBIA frente a la absorciometría dual de rayos X (DEXA) en la EH. Pacientes y métodos. Estudio transversal, observacional y unicéntrico. La EH se midió con la subescala motora de la escala unificada de valoración de la EH y con la capacidad funcional total. La composición corporal se valoró según la masa libre de grasa (MLG), la masa grasa (MG), el índice de masa libre de grasa (IMLG) y el índice de masa grasa (IMG). Se utilizó el coeficiente de correlación intraclase con intervalos de confianza al 95% y estimaciones de sesgo mediante gráficos de Bland-Altman. Resultados. Se incluyó a 16 pacientes, siete hombres y nueve mujeres, con edad media de 58,5 (32-68) años, capacidad funcional total de 10 (3-13) y escala unificada de valoración de la EH de 31 (7-85). La fiabilidad era alta entre el mfBIA y la DEXA para el IMLG en hombres, 0,88 (intervalo de confianza al 95%: 0,17-0,98), y mujeres, 0,9 (intervalo de confianza al 95%: 0,61-0,98); y para el IMG en hombres, 0,97 (intervalo de confianza al 95%: 0,83-0,99), y mujeres, 0,91 (intervalo de confianza al 95%: 0,68-0,98). El mfBIA sobreestimó ligeramente la MLG, la MG, el IMG y el IMLG en los hombres, pero subestimó el IMLG en las mujeres. Conclusiones. El mfBIA es un método fácil de usar, seguro, no invasivo y preciso para medir la composición corporal y el estado nutricional en pacientes con EH leve-moderada.


Sujet(s)
Maladie de Huntington , Sujet âgé , Femelle , Humains , Mâle , Absorptiométrie photonique/méthodes , Composition corporelle , Indice de masse corporelle , Études transversales , Impédance électrique , Maladie de Huntington/diagnostic , Reproductibilité des résultats , Adulte , Adulte d'âge moyen
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