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1.
Heliyon ; 10(10): e30698, 2024 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-38778942

RESUMO

Background: Parkinson's disease (PD), even though generally perceived as a dominantly motor disorder, is associated with a wide range of non-motor symptoms, including mixed anxiety-depressive disorder (MADD). Objectives: The aim of the presented study was to determine whether deep brain stimulation (DBS) of the subthalamic nucleus (STN) brings the functional characteristics of non-motor networks closer to the condition detected in healthy population and whether pre-DBS presence of MADD in PD patients was associated with different reaction to this therapeutic modality. Methods: Resting-state fMRI signature elicited by STN DBS activation and deactivation in 81 PD patients was compared against healthy controls, with the focus on measures of efficiency of information processing and localised subnetwork differences. Results: While all the MRI metrics showed statistically significant differences between PD patients in DBS OFF condition and healthy controls, none were detected in such a comparison against DBS ON condition. Furthermore, in the post-DBS evaluation, PD patients with MADD in the pre-DBS stage showed no differences in depression scales compared to pre-DBS psychiatrically intact PD patients, but still exhibited lower DBS-related connectivity in a subnetwork encompassing anterior and posterior cingulate, dorsolateral prefrontal and medial temporal cortices. Conclusions: STN DBS improved all the metrics of interest towards the healthy state, normalising the resting-state MRI signature of PD. Furthermore, pre-DBS presence of MADD, even though clinically silent at post-DBS MRI acquisition, was associated with lower DBS effect in areas highly relevant for depression. This finding points to a possibly latent nature of post-DBS MADD, calling for caution in further follow-up of these patients.

2.
Front Aging Neurosci ; 14: 886491, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35783142

RESUMO

Background: Everyday functioning and instrumental activities of daily living (IADL) play a vital role in preserving the quality of life in patients with Parkinson's disease (PD) after deep brain stimulation of the subthalamic nucleus (STN-DBS). Objective: The main goal of the current study was to examine IADL change in pre-and post-surgery of the STN-DBS. We also analyzed the influence of the levodopa equivalent daily dose (LEDD) and global cognitive performance (Dementia Rating Scale; DRS-2) as covariates in relation to IADL. Methods: Thirty-two non-demented PD patients were administered before and after STN-DBS neurosurgery the Penn Parkinson's Daily Activities Questionnaire (PDAQ; self-report), the DRS-2 and Beck Depression Inventory (BDI-II) to assess IADL change, global cognition, and depression. Results: We found a positive effect of STN-DBS on IADL in the post-surgery phase. Moreover, lower global cognition and lower LEDD are predictive of lower IADL in both pre-surgery and post-surgery examinations. Summary/Conclusion: STN-DBS in PD is a safe method for improvement of everyday functioning and IADL. In the post-surgery phase, we show a relation of IADL to the severity of cognitive impairment in PD and to LEDD.

3.
Neurol Neurochir Pol ; 47(6): 534-41, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24374998

RESUMO

BACKGROUND AND PURPOSE: Huntington disease (HD) is an au-tosomal dominant hereditary neurodegenerative disease with multiplication of CAG triplet in the short arm of chromoso-me 4, manifested by motor symptoms, cognitive dysfunction progressing to dementia, and various types of neuropsychiat-ric disorders. The diagnosis of HD is confirmed by a gene-tic test, which may also be carried out presymptomatically. MATERIAL AND METHODS: We studied differences in psychiatric examination and psychometric measures among the 52 people at risk of HD, who were recommended to postpone or to continue in the predictive protocol. In addition to the psychiatric examination, we administered the Eysenck Personality Questionnaire (EPQ-A), the Symptom Checklist 90 (SCL-90), and quality of life questionnaire (MANSA). RESULTS: People at risk of HD with the recommended test postponement showed lower rate of neuroticism and EPQ-A lie score, higher values on the phobia and the so-called 'positive symptom distress index' in SCL-90 and lower quality of life than people at risk of HD with the recommendation to continue. CONCLUSIONS: Our results indicate that the formalized testing does not bring significant information whereas the clinical psychiatric examination remains the main decisive factor in the recommendation to perform a predictive genetic test. The motivation of applicants is considered as the most important factor in the decision-making process.


Assuntos
Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/genética , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Transtornos Psicomotores/diagnóstico , Transtornos Psicomotores/genética , Adulto , Causalidade , Transtornos Cognitivos/epidemiologia , Comorbidade , Feminino , Predisposição Genética para Doença , Nível de Saúde , Humanos , Doença de Huntington/epidemiologia , Doença de Huntington/psicologia , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Polônia , Valor Preditivo dos Testes , Escalas de Graduação Psiquiátrica , Transtornos Psicomotores/epidemiologia , Fatores de Risco , Adulto Jovem
4.
Mov Disord ; 26(1): 125-9, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21322024

RESUMO

Huntington's disease (HD) is caused by the expansion of the number of CAG repeats on the chromosome 4p16.3, which results in elongated glutamine tract of huntingtin. The purpose of this work was to examine the interaction between the normal and mutant alleles of this gene and their effect on the clinical onset of HD. We hypothesized that in patients with identical number of CAG repeats within the mutant allele, the age of onset of HD is influenced by the number of CAG repeats within the normal allele. We analyzed the relations between the number of CAG repeats within the normal and mutant alleles, the age at HD onset, and the character of initial symptoms in 468 patients with clinically expressed HD. Although the Cox regression coefficient of 0.15 was significant (P < 0.0001), the regression model explained only 28% of the variance of the age at onset related to the effect of the number of CAG repeats within normal allele. Within the groups of patients with the same number of CAG repeats of the mutant allele, number of CAG repeats of the normal allele was found uncorrelated to the age at onset. Furthermore, when analyzing subgroups of patients with the same allelic composition on both alleles, we failed to observe any correlation with the age at the onset. Our analysis gives no corroboration to the idea of a normal allele having a share in the modification of the age at HD onset. We believe that with the current state of knowledge it is not possible to devise a mathematical model for HD onset prediction because too many entirely unknown modifying factors are still involved.


Assuntos
Doença de Huntington/genética , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Repetições de Trinucleotídeos/genética , Adolescente , Adulto , Idade de Início , Idoso , República Tcheca , Feminino , Frequência do Gene , Genótipo , Humanos , Proteína Huntingtina , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Modelos de Riscos Proporcionais , Adulto Jovem
5.
Funct Neurol ; 20(3): 127-30, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16324236

RESUMO

We analysed clinical data in 80 genetically confirmed Huntington?s disease (HD) patients and measured the severity of the head of the caudate nucleus (HCN) atrophy using computed tomography-guided planimetry. The results were compared with measurements obtained in 43 age-matched healthy subjects. Mean planimetric measurements of the HCN differed significantly between the HD patients and healthy controls (p<0.001). We observed a significant inverse correlation between duration of HD and HCN planimetric values (p<0.001). Physiological atrophy of the HCN with age was also present in healthy controls, but did not overlap with values obtained in HD patients (p<0.01). Furthermore, we found in our patients a statistically significant inverse correlation between the number of CAG triplet repeats and the age at onset of HD (p<0.001). Neither the number of CAG triplet repeats, nor the age at onset of HD was found to be related to the character of the initial clinical symptoms (motor vs mental). Similarly, no relationship emerged between maternal or paternal inheritance and the number of CAG triplet repeats. Moreover, the type of inheritance did not influence the age at onset of HD in our patients. Planimetric measurement of the HCN appears to be a simple and useful paraclinical tool for the diagnosis of HD.


Assuntos
Núcleo Caudado/patologia , Doença de Huntington/patologia , Adulto , Envelhecimento/patologia , Envelhecimento/fisiologia , Atrofia/genética , Núcleo Caudado/anatomia & histologia , Feminino , Humanos , Doença de Huntington/genética , Masculino , Pessoa de Meia-Idade , Tamanho do Órgão/genética , Valores de Referência , Estatísticas não Paramétricas
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