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1.
Front Neurol ; 15: 1474336, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39416661

RESUMO

Background: Alzheimer's and other neurodegenerative forms of dementia affect 8 million Europeans. Assistive technologies are suggested to reduce the burden of care and improve the quality of life of person living with dementia. Nonetheless, the acceptance and attitudes toward technological interventions pose challenges not only for people living with dementia and caregivers but also for healthcare workers. This review specifically aims to investigate how these key groups perceive and accept technology in European dementia care settings. Methods: This systematic review was conducted to identify studies, published between 2013 and 2023, that examined the acceptance and attitude of assistive technologies in Alzheimer's and other dementia European settings, following the PRISMA guidelines. Rayyan AI was used for data extraction, and bias was assessed using the Mixed Methods Appraisal Tool. Results: Among the 1,202 identified articles, 13 met the inclusion criteria, revealing a prevailing positivity toward technological interventions in dementia care. Nonetheless, several barriers to adoption, including technological unfamiliarity, and specific dementia-related symptoms that complicate usage were identified. They also unveiled varying attitudes, influenced by factors such as familiarity with technologies, perceived usefulness, and the broader context of the COVID-19 pandemic which accelerated telemedicine and digital solution acceptance during restricted mobility and social distancing. Conclusion: Understanding attitudes toward technology in dementia care is crucial as it influences the adoption and utilization of tech-based interventions, impacting symptom management and quality of life. Addressing these attitudes through tailored interventions and education can enhance well-being and quality of life for people living with dementia, caregivers, and healthcare professionals.

2.
Clin Neuropsychol ; : 1-19, 2024 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-39394675

RESUMO

Objective: Visuospatial deficits have been extensively studied in Huntington's disease (HD), particularly in relation to visuomotor integration, with less emphasis on visuo-constructive abilities. Quantitative analyses have demonstrated that individuals with HD perform worse than healthy controls (HC) but similarly to people with Alzheimer's disease (AD). The aim of the present study was to conduct a qualitative investigation of visuo-constructive abilities in both HD and AD. By employing both simple and complex tasks, we hypothesized that a qualitative analysis of performance would reveal a distinct pattern of errors specific to HD. Methods: Participants for this study were identified retrospectively. The sample included 41 individuals with HD, 25 with AD, and 35 HC. All participants underwent a neuropsychological battery, which included the Constructional Apraxia Test (CAT) and the Rey-Osterrieth Complex Figure (ROCF) test. Results: Our results showed no significant quantitative difference in visuo-constructive performance between the two patient groups. However, distinct qualitative patterns of drawing errors emerged. Simplifications were more frequent in the AD group, while distortions were distinctive errors in the HD group. These qualitative error patterns were consistent across both the CAT and ROCF. Conclusion: Our study emphasises the value of qualitative analysis in interpreting visuo-constructive performance, shifting the focus from "how much" a participant achieves to "how" they perform a neuropsychological task. This qualitative approach is useful to capture the complexity and variability of individual performance, providing deeper insight into the cognitive processes affected by different neurological conditions.

3.
Sci Data ; 11(1): 800, 2024 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-39030186

RESUMO

This paper describes a new publicly-available database of VOiCe signals acquired in Amyotrophic Lateral Sclerosis (ALS) patients (VOC-ALS) and healthy controls performing different speech tasks. This dataset consists of 1224 voice signals recorded from 153 participants: 51 healthy controls (32 males and 19 females) and 102 ALS patients (65 males and 37 females) with different severity of dysarthria. Each subject's voice was recorded using a smartphone application (Vox4Health) while performing several vocal tasks, including a sustained phonation of the vowels /a/, /e/, /i/, /o/, /u/ and /pa/, /ta/, /ka/ syllable repetition. Basic derived speech metrics such as harmonics-to-noise ratio, mean and standard deviation of fundamental frequency (F0), jitter and shimmer were calculated. The F0 standard deviation of vowels and syllables showed an excellent ability to identify people with ALS and to discriminate the different severity of dysarthria. These data represent the most comprehensive database of voice signals in ALS and form a solid basis for research on the recognition of voice impairment in ALS patients for use in clinical applications.


Assuntos
Esclerose Lateral Amiotrófica , Disartria , Humanos , Esclerose Lateral Amiotrófica/fisiopatologia , Esclerose Lateral Amiotrófica/complicações , Disartria/fisiopatologia , Masculino , Feminino , Voz , Bases de Dados Factuais , Pessoa de Meia-Idade , Adulto , Idoso , Estudos de Casos e Controles
5.
Neurol Sci ; 45(9): 4373-4381, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38607533

RESUMO

BACKGROUND: SPG18 is caused by mutations in the endoplasmic reticulum lipid raft associated 2 (ERLIN2) gene. Autosomal recessive (AR) mutations are usually associated with complicated hereditary spastic paraplegia (HSP), while autosomal dominant (AD) mutations use to cause pure SPG18. AIM: To define the variegate clinical spectrum of the SPG18 and to evaluate a dominant negative effect of erlin2 (encoded by ERLIN2) on oligomerization as causing differences between AR and AD phenotypes. METHODS: In a four-generation pedigree with an AD pattern, a spastic paraplegia multigene panel test was performed. Oligomerization of erlin2 was analyzed with velocity gradient assay in fibroblasts of the proband and healthy subjects. RESULTS: Despite the common p.V168M mutation identified in ERLIN2, a phenoconversion to amyotrophic lateral sclerosis (ALS) was observed in the second generation, pure HSP in the third generation, and a complicated form with psychomotor delay and epilepsy in the fourth generation. Erlin2 oligomerization was found to be normal. DISCUSSION: We report the first AD SPG18 family with a complicated phenotype, and we ruled out a dominant negative effect of V168M on erlin2 oligomerization. Therefore, our data do not support the hypothesis of a relationship between the mode of inheritance and the phenotype, but confirm the multifaceted nature of SPG18 on both genetic and clinical point of view. Clinicians should be aware of the importance of conducting an in-depth clinical evaluation to unmask all the possible manifestations associated to an only apparently pure SPG18 phenotype. We confirm the genotype-phenotype correlation between V168M and ALS emphasizing the value of close follow-up.


Assuntos
Proteínas de Membrana , Mutação , Linhagem , Paraplegia Espástica Hereditária , Humanos , Paraplegia Espástica Hereditária/genética , Feminino , Masculino , Adulto , Proteínas de Membrana/genética , Pessoa de Meia-Idade , Fenótipo , Adulto Jovem , Adolescente , Genes Dominantes , Criança , Idoso
6.
Neuroepidemiology ; : 1-12, 2024 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-38657587

RESUMO

OBJECTIVE: The aims of this study were to provide population-based estimates of prevalence and incidence of any dementia and Alzheimer's dementia (AD) in the Campania region (South Italy) and to validate towards a clinical registry. METHODS: This was a population-based study, using routinely collected healthcare data of individuals living in the Campania region (South Italy) from 2015 to 2020. We included individuals aged ≥65 years alive at the prevalence day (January 1, 2021) who had at least one administrative record for dementia and/or AD from 2015 to 2020. Age-and sex-standardised prevalence rates were calculated using direct standardisation method (European population in 2020 as the reference population). To estimate the incidence, we tested three possible algorithms, which differed for the duration of the time interval between study baseline (January 1, 2015) and index date (first record for dementia and/or AD in administrative databases). We employed a clinical database for the validation of our algorithms towards neuropsychological test results. RESULTS: Among individuals aged over 65 years, 80,392 had dementia, of which 35,748 had AD. The age- and sex-standardised prevalence rates per 1,000 individuals for any dementia and AD were 77.64 (95% confidence interval [CI] = 77.57; 77.68) and 34.05 (95% CI = 34.01; 34.09), respectively. There were 82.10 incident cases of any dementia per 100,000 per year (0.79 sensitivity and 0.62 specificity) and 59.89 incident cases of AD per 100,000 per year (0.80 sensitivity and 0.59 specificity). The capture-recapture method showed a very low number of undetected cases (1.7% for any dementia and 3.0% for AD). Our algorithms showed acceptable performance with the area under the curve ranging from 0.59 to 0.72 and a double likelihood ratio of correctly identifying individuals above and below mini-mental status examination (MMSE) standard cut-offs (24 and 26). CONCLUSIONS: Prevalence and incidence of any dementia and AD in the Campania region (South Italy) from 2015 to 2020 are in line with previous estimates from other countries. Our algorithm, integrating administrative and clinical data, holds potential for assessing dementia's epidemiological burden, identifying risk factors, planning healthcare access, and developing prevention strategies.

7.
J Neurol ; 270(11): 5408-5417, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37462754

RESUMO

BACKGROUND: Progressive cognitive decline is an inevitable feature of Huntington's disease (HD) but specific criteria and instruments are still insufficiently developed to reliably classify patients into categories of cognitive severity and to monitor the progression of cognitive impairment. METHODS: We collected data from a cohort of 180 positive gene-carriers: 33 with premanifest HD and 147 with manifest HD. Using a specifically developed gold-standard for cognitive status we classified participants into those with normal cognition, those with mild cognitive impairment, and those with dementia. We administered the Parkinson's Disease-Cognitive Rating Scale (PD-CRS), the MMSE and the UHDRS cogscore at baseline, and at 6-month and 12-month follow-up visits. Cutoff scores discriminating between the three cognitive categories were calculated for each instrument. For each cognitive group and instrument we addressed cognitive progression, sensitivity to change, and the minimally clinical important difference corresponding to conversion from one category to another. RESULTS: The PD-CRS cutoff scores for MCI and dementia showed excellent sensitivity and specificity ratios that were not achieved with the other instruments. Throughout follow-up, in all cognitive groups, PD-CRS captured the rate of conversion from one cognitive category to another and also the different patterns in terms of cognitive trajectories. CONCLUSION: The PD-CRS is a valid and reliable instrument to capture MCI and dementia syndromes in HD. It captures the different trajectories of cognitive progression as a function of cognitive status and shows sensitivity to change in MCI and dementia.


Assuntos
Disfunção Cognitiva , Doença de Huntington , Doença de Parkinson , Humanos , Doença de Huntington/complicações , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Testes Neuropsicológicos , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/psicologia , Cognição , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico
8.
Eur J Neurol ; 30(10): 3056-3067, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37335396

RESUMO

BACKGROUND: In amyotrophic lateral sclerosis (ALS), gait abnormalities contribute to poor mobility and represent a relevant risk for falls. To date, gait studies in ALS patients have focused on the motor dimension of the disease, underestimating the cognitive aspects. METHODS: Using a wearable gait analysis device, we compared gait patterns in ambulatory ALS patients with mild cognitive impairment (ALS MCI+; n = 18), and without MCI (ALS MCI-; n = 24), and healthy subjects (HS; n = 16) under two conditions: (1) normal gait (single task) and (2) walking while counting backward (dual task). Finally, we examined if the occurrence and number of falls in the 3 months following the baseline test were related to cognition. RESULTS: In the single task condition, ALS patients, regardless of cognition, displayed higher gait variability than HS, especially for stance and swing time (p < 0.001). The dual task condition revealed additional differences in gait variability parameters between ALS MCI+ and ALS MCI- for cadence (p = 0.005), stance time (p = 0.04), swing time (p = 0.04) and stability index (p = 0.02). Moreover, ALS MCI+ showed a higher occurrence (p = 0.001) and number of falls (p < 0.001) at the follow-up. Regression analyses demonstrated that MCI condition predicted the occurrence of future falls (ß = 3.649; p = 0.01) and, together with executive dysfunction, was associated with the number of falls (cognitive impairment: ß = 0.63; p < 0.001; executive dysfunction: ß = 0.39; p = 0.03), regardless of motor impairment at clinical examination. CONCLUSION: In ALS, MCI is associated with exaggerated gait variability and predicts the occurrence and number of short-term falls.


Assuntos
Esclerose Lateral Amiotrófica , Disfunção Cognitiva , Humanos , Esclerose Lateral Amiotrófica/complicações , Disfunção Cognitiva/complicações , Marcha , Caminhada , Cognição
10.
Artigo em Inglês | MEDLINE | ID: mdl-36900872

RESUMO

This article reports the study protocol of a nationwide multicentric study in seven Italian regions aimed at assessing the effectiveness of a digitally supported approach for the early screening of frailty risk factors in community-dwelling older adults. SUNFRAIL+ is a prospective observational cohort study aimed at carrying out a multidimensional assessment of community-dwelling older adults through an IT platform, which allows to connect the items of the SUNFRAIL frailty assessment tool with a cascading multidimensional in-depth assessment of the bio-psycho-social domains of frailty. Seven centers in seven Italian regions will administer the SUNFRAIL questionnaire to 100 older adults. According to the answers provided by older adults, they will be subjected to one or more validated in-depth scale tests in order to perform further diagnostic or dimensional evaluations. The study aims to contribute to the implementation and validation of a multiprofessional and multistakeholder service model for the screening of frailty in community-dwelling older adult population.


Assuntos
Fragilidade , Humanos , Idoso , Fragilidade/epidemiologia , Idoso Fragilizado , Vida Independente , Estudos Prospectivos , Avaliação Geriátrica/métodos , Serviços de Saúde , Estudos Observacionais como Assunto
11.
Front Med (Lausanne) ; 9: 998838, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36465902

RESUMO

Background: Irritable bowel syndrome (IBS) is a common multifactorial condition that affects the large intestine and is characterized by chronic and relapsing abdominal pain and altered bowel habit. IBS is due to a combination of genetic, environmental and dietary factors. It's usually a lifelong problem very frustrating to live with and can have a big impact on quality of life, as single-agent therapy ra. Objective: To analyze the approaches and solutions that address the social and health unmet needs of patients with IBS. Design: A quantitative-qualitative approach was adopted in the current study to identify and specify key digital solution and high impact user scenarios applied to IBS patients, through an adaptation of the "Blueprint on Digital Transformation in Health and Care in an Ageing Society" persona methodology. Settings: Digital health solutions bring the potential of supporting health interventions through mobile apps, wearable devices, telemedicine. Patients: A Survey was administered to a group of patients in an anonymous form, and no need for Medical Ethical Committee approval was identified. Interventions: The theoretical elaboration IBS personas was developed through an interdisciplinary Focus Group, which also mapped the pathway for the patient's management. Main outcome: Three main needs were identified to be met to improve IBS patient's lifestyle: access to psychological support, mHealth solutions supporting diet and adapted physical activity, and home-based digital health support. mHealth intervention has been identified for diet adherence, physical exercise and psychological well-being. The process has been mapped and adapted to integrate the new solutions into the care pathway. Limitation: Further research is needed to evaluate how mHealth services enable IBS patients to manage their conditions and improve their quality of life. Conclusion: The person-centered approach was implemented through a multidisciplinary Focus group that enabled the identification of the need for a mHealth intervention.

12.
Artigo em Inglês | MEDLINE | ID: mdl-36498125

RESUMO

Frailty is a complex interplay between several factors, including physiological changes in ageing, multimorbidities, malnutrition, living environment, genetics, and lifestyle. Early screening for frailty risk factors in community-dwelling older people allows for preventive interventions on the clinical and social determinants of frailty, which allows adverse events to be avoided. By conducting a narrative review of the literature employing the International Narrative Systematic Assessment tool, the authors aimed to develop an updated framework for the main measurement tools to assess frailty risks in older adults, paying attention to use in the community and primary care settings. This search focused on the biopsychosocial domains of frailty that are covered in the SUNFRAIL tool. The study selected 178 reviews (polypharmacy: 20; nutrition: 13; physical activity: 74; medical visits: 0; falls: 39; cognitive decline: 12; loneliness: 15; social support: 5; economic constraints: 0) published between January 2010 and December 2021. Within the selected reviews, 123 assessment tools were identified (polypharmacy: 15; nutrition: 15; physical activity: 25; medical visits: 0; falls: 26; cognitive decline: 18; loneliness: 9; social support: 15; economic constraints: 0). The narrative review allowed us to evaluate assessment tools of frailty domains to be adopted for multidimensional health promotion and prevention interventions in community and primary care.


Assuntos
Fragilidade , Desnutrição , Humanos , Idoso , Vida Independente , Idoso Fragilizado , Fragilidade/diagnóstico , Polimedicação , Avaliação Geriátrica/métodos
13.
Ann Ital Chir ; 93: 609-614, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35856252

RESUMO

Irritable bowel syndrome (IBS) is a common multifactorial condition that affects the large intestine and is characterized by chronic and relapsing abdominal pain and altered bowel habit. IBS is due to a combination of genetic, environmental and dietary factors. It's usually a lifelong problem very frustrating to live with and can have a big impact on quality of life, as single-agent therapy rarely relieves bothersome symptoms for all patients. The objective of this study was to analyze the approaches and solutions that address the social and health unmet needs of patients with IBS. A qualitative approach was adopted in the current study to identify and specify key digital solution and high impact user scenarios applied to IBS patients, through an adaptation of the "Blueprint on Digital Transformation in Health and Care in an Ageing Society" persona methodology. A Survey was administered to a group of patients in anonymous form. The theoretical elaboration IBS personas was developed through an interdisciplinary Focus Group, which also mapped the pathway for the patient's management. Three main needs were identified to be met to improve IBS patient's lifestyle: access to psychological support, mHealth solutions supporting diet and adapted physical activity, and homebased digital health support. mHealth intervention has been identified for diet adherence, physical exercise and psychological well-being. The process has been mapped and adapted to integrate the new solutions into the care pathway. Further research is needed to evaluate how mHealth services enable IBS patients to manage their conditions and improve their quality of life. KEY WORDS: Digital Health, Irritable bowel syndrome, mHealth, Nutrition, Physical activity, Psychological support.


Assuntos
Síndrome do Intestino Irritável , Humanos , Síndrome do Intestino Irritável/terapia , Síndrome do Intestino Irritável/diagnóstico , Síndrome do Intestino Irritável/psicologia , Qualidade de Vida , Dor Abdominal , Bem-Estar Psicológico
14.
Neurol Sci ; 43(9): 5403-5410, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35751711

RESUMO

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder with progressive loss of upper and lower motor neurons. Non-motor-symptoms, such as cognitive, emotional, autonomic, and somatosensory alterations, have been also described. Interoception represents the link between the body and brain, since it refers to the ability to consciously perceive the physical condition of the inner body, including one's heartbeat (i.e., interoceptive sensitivity, IS). OBJECTIVES: To evaluate IS in ALS patients by means of a well-established task: the heartbeat perception task. Moreover, we evaluated possible correlations between IS and neuropsychological, affective, and disease-related characteristics. METHODS: Fifty-five ALS patients (mean-age = 60.3 ± 12.5 years; mean disease-duration = 20.9 ± 18.8 months) and 41 caregivers (CG) underwent the heartbeat perception task and an extensive evaluation of motor, cognitive, body awareness, affective, and emotion domains. RESULTS: ALS patients showed lower IS than CG (0.68 ± 0.24 vs 0.82 ± 0.16; p = 0.003). Significant correlations were found between IS and self-reported measures of alexithymia (subscale of Toronto Alexithymia scale-20 "difficulties in describing feelings"; rho = - .391, p = .003) and interoceptive awareness (subscale of Multidimensional assessment of interoceptive awareness "not worrying about pain"; rho = .405, p = .002). No significant differences were found on questionnaires for depression and anxiety between patients with ALS and their caregivers (p > .05). CONCLUSIONS: ALS patients show reduced interoceptive sensitivity that is associated with poorer ability to describe feelings and with lower focalization on pain, regardless of cognitive and motor impairment. Alteration of interoception may represent a specific behavioural sign within the spectrum of emotion processing deficits described in ALS patients.


Assuntos
Esclerose Lateral Amiotrófica , Interocepção , Idoso , Esclerose Lateral Amiotrófica/complicações , Conscientização/fisiologia , Emoções/fisiologia , Frequência Cardíaca/fisiologia , Humanos , Interocepção/fisiologia , Pessoa de Meia-Idade , Dor
15.
Brain Sci ; 12(5)2022 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-35625062

RESUMO

Pain is a minor problem compared with other Huntington Disease (HD) symptoms. Nevertheless, in HD it is poorly recognized and underestimated. So far, no study evaluated the presence of chronic pain in HD. The aim of this pilot study was to evaluate the presence and features of chronic pain in a cohort of HD gene carriers. An observational cross-sectional study was conducted in a cohort of HD gene carriers compared to not gene carriers (n.134 HD subjects, n.74 not gene mutation carriers). A specific pain interview, alongside a neurological, cognitive and behavioural examination, was performed in order to classify the type of pain, subjective intensity. A significant prevalence of "no Pain" in HD was found, which tended to increase with HD progression and a reduced frequency of pain in the last 3 months. A clear difference was found between manifest and premanifest HD in terms of intensity of pain, which did not change significantly with HD progression; however, a tendency emerges to a progressive reduction. No significant group difference was present in analgesic use, type and the site of pain. These findings could support a lower prevalence of chronic pain in manifest HD. Prevalence and intensity of chronic pain seem directly influenced by the process of neurodegeneration rather than by an incorrect cognitive and emotional functioning.

16.
Graefes Arch Clin Exp Ophthalmol ; 260(7): 2321-2328, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35064364

RESUMO

PURPOSE: To investigate the vessel density (VD) of the radial peripapillary capillary (RPC) plexus in patients affected by preperimetric glaucoma (PPG), amnestic mild cognitive impairment (aMCI) and in a healthy control group using optical coherence tomography angiography (OCTA) in order to clarify the pathogenetic mechanisms of these neurodegenerative diseases. METHODS: In this prospective study, we studied 54 eyes of 54 patients with PPG, 54 eyes of 54 patients with aMCI and 54 healthy controls. All subjects underwent structural spectral domain optical coherence tomography (SD)-OCT to assess the ganglion cell complex (GCC) and the retinal nerve fibre layer (RNFL). OCTA was used to evaluate the VD of the RPC in different regions (whole image, inside disc and peripapillary). RESULTS: The PPG and aMCI groups showed a statistically significant reduction in SD-OCT and parameters with respect to controls (p < 0.001). No statistically significant difference was found in GCC and RNFL parameters between the two study groups (p > 0.05). At OCTA examination, PPG and aMCI patients exhibited a statistically significant reduction in the VD of the RPC in whole image, inside and peripapillary regions compared to healthy controls (p < 0.001). When comparing the two study groups, the OCTA parameters were significantly impaired in PPG with respect to aMCI patients. Significant correlations were found between structural OCT and OCTA parameters in PPG and aMCI groups (p < 0.05). CONCLUSIONS: RPC vessel density could represent a helpful and sensible biomarker to identify early retinal microvascular changes in PPG and MCI in order to better understand the vascular pathophysiological mechanisms involved in these neurodegenerative diseases.


Assuntos
Disfunção Cognitiva , Glaucoma , Biomarcadores , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/patologia , Angiofluoresceinografia/métodos , Humanos , Estudos Prospectivos , Retina , Vasos Retinianos/patologia , Tomografia de Coerência Óptica/métodos
17.
J Nucl Cardiol ; 29(2): 642-648, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-32803674

RESUMO

BACKGROUND: Huntington's disease (HD) patients often present with abnormal modulation of blood pressure and heart rate. We investigated whether cardiac autonomic innervation assessed by 123I-metaiodobenzylguanidine (MIBG) imaging is impaired in HD patients, in comparison with controls (Ctrl). METHODS: Fifteen patients (6 F and 9 M) were assessed by the motor section of the Unified HD Rating Scale, the Total Function Capacity, and the scale for outcomes in Parkinson's disease-autonomic (SCOPA-AUT) questionnaire. All patients and 10 Ctrl (5 F and 5 M) underwent 123I-MIBG imaging. From planar images, the early and late heart-to-mediastinum (H/M) ratios and myocardial washout rates (WR) were calculated. RESULTS: We did not find significant differences in early and late H/M ratios and WR between the two groups. At individual level, three patients showed reduced early and/or late H/M ratios. The most common autonomic complaints were gastrointestinal and genitourinary disorders. SCOPA-AUT questionnaire score results positively correlated with the disease duration and WR. CONCLUSIONS: Our study indicates that myocardial postganglionic sympathetic innervation is essentially preserved or only minimally involved in HD. These findings suggest that the cardiovascular dysfunction might be mainly due to the impairment of brain areas associated with the regulation and modulation of the heart function.


Assuntos
Doenças do Sistema Nervoso Autônomo , Doença de Huntington , Imagem de Perfusão do Miocárdio , 3-Iodobenzilguanidina , Doenças do Sistema Nervoso Autônomo/diagnóstico por imagem , Coração/inervação , Humanos , Doença de Huntington/diagnóstico por imagem , Radioisótopos do Iodo , Compostos Radiofarmacêuticos
18.
J Huntingtons Dis ; 10(4): 459-468, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34602494

RESUMO

BACKGROUND: Arithmetic word-problem solving depends on the interaction of several cognitive processes that may be affected early in the disease in gene-mutation carriers for Huntington's disease (HD). OBJECTIVE: Our goal was to examine the pattern of performance of arithmetic tasks in premanifest and manifest HD, and to examine correlations between arithmetic task performance and other neuropsychological tasks. METHODS: We collected data from a multicenter cohort of 165 HD gene-mutation carriers. The sample consisted of 31 premanifest participants: 16 far-from (>12 years estimated time to diagnosis; preHD-A) and 15 close-to (≤12 years estimated time to diagnosis; preHD-B), 134 symptomatic patients (early-mild HD), and 37 healthy controls (HC). We compared performance between groups and explored the associations between arithmetic word-problem solving and neuropsychological and clinical variables. RESULTS: Total arithmetic word-problem solving scores were lower in preHD-B patients than in preHD-A (p < 0.05) patients and HC (p < 0.01). Early-mild HD patients had lower scores than preHD patients (p < 0.001) and HC (p < 0.001). Compared to HC, preHD and early-mild HD participants made more errors as trial complexity increased. Moreover, arithmetic word-problem solving scores were significantly associated with measures of global cognition (p < 0.001), frontal-executive functions (p < 0.001), attention (p < 0.001) visual working memory (p < 0.001), mental rotation (p < 0.001), and confrontation naming (p < 0.05). CONCLUSION: Arithmetic word-problem solving is affected early in the course of HD and is related to deficient processes in frontal-executive and mentalizing-related processes.


Assuntos
Doença de Huntington , Biomarcadores , Cognição , Progressão da Doença , Função Executiva , Humanos , Doença de Huntington/genética , Testes Neuropsicológicos , Resolução de Problemas
19.
Neurol Sci ; 42(9): 3947-3948, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34338930
20.
Neurol Sci ; 42(3): 995-1001, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32700226

RESUMO

OBJECTIVES: To evaluate the retinal and choriocapillaris vascular networks in macular region and the central choroidal thickness (CCT) in patients affected by Huntington disease (HD), using optical coherence tomography angiography (OCTA) and enhanced depth imaging spectral-domain OCT (EDI SD-OCT). METHODS: We assessed the vessel density (VD) in superficial capillary plexus (SCP), deep capillary plexus (DCP), and choriocapillaris (CC) using OCTA, while CCT was measured by EDI SD-OCT. RESULTS: Sixteen HD patients (32 eyes) and thirteen healthy controls (26 eyes) were enrolled in this prospective study. No significant difference in retinal and choriocapillaris VD was found between HD patients and controls while CCT turned to be thinner in patients respect to controls. There were no significant relationships between OCTA findings and neurological parameters. CONCLUSION: The changes in choroidal structure provide useful information regarding the possible neurovascular involvement in the physiopathology of HD. Choroidal vascular network could be a useful parameter to evaluate the vascular impairment that occurs in this neurodegenerative disease.


Assuntos
Doença de Huntington , Doenças Neurodegenerativas , Angiofluoresceinografia , Humanos , Doença de Huntington/diagnóstico por imagem , Estudos Prospectivos , Vasos Retinianos/diagnóstico por imagem , Tomografia de Coerência Óptica
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