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1.
BMC Neurol ; 24(1): 186, 2024 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-38834958

RESUMO

BACKGROUND: Over the last decade, there has been an emerging trend of recreational misuse of several drugs and inhaled solvent including ethyl chloride. This case report follows CARE guidelines and highlights, with supporting video, the neurological features of ethyl chloride intoxication. CASE PRESENTATION: A 48-year-old man was seen for the sudden occurrence of an unsteady gait with dizziness. His only medical history was a chronic and treated HIV infection without any complications. Clinical examination revealed a cerebellar syndrome associated with impairment of short-term memory. Biological and radiological workups were normal. After several days, the patient recalled ethyl chloride inhalation. He fully recovered after being discharged from hospital. CONCLUSION: Clinicians should recognise the clinical features and neurological manifestations of ethyl chloride intoxication due to the potential fatal cardiovascular complications of this intoxication.


Assuntos
Cloreto de Etil , Óxido Nitroso , Humanos , Masculino , Pessoa de Meia-Idade , Cloreto de Etil/efeitos adversos , Óxido Nitroso/efeitos adversos , Óxido Nitroso/administração & dosagem
2.
Front Neurol ; 15: 1308462, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38576535

RESUMO

Objectives: Spontaneous intracranial hypotension (SIH) is frequently complicated by subacute subdural hematoma (SDH) and more rarely by bilateral thalamic ischemia. Here, we report a case of SIH-related SDH treated with three epidural patches (EPs), with follow-up of the intracranial pressure and lumbar intrathecal pressure. Methods: A 46-year-old man presented bilateral thalamic ischemia, then a growing SDH. After failure of urgent surgical evacuation, he underwent three saline EPs, two dynamic myelography examinations and one digital subtraction angiography-phlebography examination. However, because of no dural tear and no obstacle to the venous drainage of the vein of Galen, no therapeutic procedure was available, and the patient died. Results: The case exhibited a progressive increase in the transmission of lumbar intrathecal pressure to intracranial pressure during the three EPs. The EPs may have successfully treated the SIH, but the patient did not recover consciousness because of irreversible damage to both thalami. Conclusion: Clinicians should be aware of the bilateral thalamic ischemia picture that may be the presenting sign of SIH. Moreover, the key problem in the pathophysiology of SIH seems to be intraspinal and intracranial volumes rather than pressures. Therefore, intracranial hypotension syndrome might actually be an intraspinal hypovolume syndrome.

3.
PLoS One ; 19(2): e0294240, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38381728

RESUMO

BACKGROUND: For couples facing Parkinson's disease, marital relationships are significantly impacted, even at the early stages of the disease. However, very few studies have explicitly explored the functioning of the couple and how both partners deal with Parkinson's disease. The aim of this study was to explore the experiences and strategies of couples facing Parkinson's disease in the early stage using dyadic interpretative phenomenological analysis. METHODS: Fifteen couples agreed to participate in the study. Semistructured interviews were conducted with each partner separately regarding his or her individual experience with Parkinson's disease, the couple's history, the impact of the diagnosis on the functioning of the couple, and his or her projections for the future. RESULTS: Three higher-order themes emerged from the analyses. The first theme, "Being tested by the diagnosis", highlights 4 dyadic configurations according to the individual's and the couple's capacity for adjustment following the diagnosis: "noncongruent", "collapsed", "relieved" and "avoidant". The second theme, "Talking about everything except the disease", underlines that communication about the disease is often avoided both within the couple and with relatives to protect the persons with Parkinson's disease or respect their wishes. The third theme, "Supporting each other", describes the different levels of harmony between the two partners in the management of daily life and symptoms and their relational impacts. CONCLUSION: These results allow us to better understand the experiences of both partners and to highlight the importance of promoting better acceptance of the diagnosis by persons with Parkinson's disease to allow better communication between partners and with relatives. Such support prevents disease-specific distress and facilitates better adjustment in the later stages of the disease.


Assuntos
Adaptação Psicológica , Doença de Parkinson , Masculino , Feminino , Humanos , Doença de Parkinson/diagnóstico , Casamento
4.
PLOS Digit Health ; 2(11): e0000262, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37992015

RESUMO

Wearable technology provides an opportunity for new ways of monitoring patient gait remotely, through at-home self-administered six-minute walk tests (6MWTs). The purpose of this study was to evaluate the test-retest reliability of FeetMe insoles, a wearable gait assessment device, for measuring the six-minute walking distance (6MWD) during tests conducted with a one-week interval by completely unassisted healthy adults in their homes. Participants (n = 21) performed two 6MWTs at home while wearing the FeetMe insoles, and two 6MWTs at hospital while wearing FeetMe insoles and being assessed by a rater. All assessments were performed with a one-week interval between tests, no assistance was provided to the participants at home. The agreement between the 6MWD measurements made at baseline and at Week 1 was good for all test configurations and was highest for the at-home FeetMe measurements, with an intraclass correlation coefficient (ICC) of 0.95, standard error of the measurement (SEM) of 15.02 m and coefficient of variation (CV) of 3.33%, compared to ICCs of 0.79 and 0.78, SEMs of 25.65 and 26.65 and CVs of 6.24% and 6.10% for the rater and FeetMe measurements at hospital, respectively. Our work demonstrates that the FeetMe system could provide a reliable solution allowing individuals to self-administer 6MWTs independently at home.

5.
NPJ Parkinsons Dis ; 9(1): 21, 2023 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-36750568

RESUMO

Expression or phosphorylation levels of leucine-rich repeat kinase 2 (LRRK2) and its Rab substrates have strong potential as disease or pharmacodynamic biomarkers. The main objective of this study is therefore to assess the LRRK2-Rab pathway for use as biomarkers in human, non-human primate (NHP) and rat urine. With urine collected from human subjects and animals, we applied an ultracentrifugation based fractionation protocol to isolate small urinary extracellular vesicles (uEVs). We used western blot with antibodies directed against total and phosphorylated LRRK2, Rab8, and Rab10 to measure these LRRK2 and Rab epitopes in uEVs. We confirm the presence of LRRK2 and Rab8/10 in human and NHP uEVs, including total LRRK2 as well as phospho-LRRK2, phospho-Rab8 and phospho-Rab10. We also confirm LRRK2 and Rab expression in rodent uEVs. We quantified LRRK2 and Rab epitopes in human cohorts and found in a first cohort that pS1292-LRRK2 levels were elevated in individuals carrying the LRRK2 G2019S mutation, without significant differences between healthy and PD groups, whether for LRRK2 G2019S carriers or not. In a second cohort, we found that PD was associated to increased Rab8 levels and decreased pS910-LRRK2 and pS935-LRRK2. In animals, acute treatment with LRRK2 kinase inhibitors led to decreased pT73-Rab10. The identification of changes in Rab8 and LRRK2 phosphorylation at S910 and S935 heterologous phosphosites in uEVs of PD patients and pT73-Rab10 in inhibitor-dosed animals further reinforces the potential of the LRRK2-Rab pathway as a source of PD and pharmacodynamic biomarkers in uEVs.

6.
Br J Health Psychol ; 28(2): 366-382, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36301684

RESUMO

INTRODUCTION: The public health issue of the Parkinson's disease (PD) has led to a great deal of research that has highlighted the individual challenges faced by the person with the Parkinson's disease (PwPD) and the caregiving spouse. Few studies, however, have sought to understand the functioning of couples facing PD, by differentiating each stage, each of which has its own issues. In particular, the "honeymoon period", characterized by a symptomatic respite allowed by the effectiveness of treatments for motor symptoms, has been poorly documented, especially at the dyadic level. DESIGN AND METHOD: This qualitative study, based on Interpretative Phenomenological Analysis, aimed to understand the experience of couples and their functioning at this stage. Fifteen couples participated in separate semi-structured interviews for each partner. The analyses highlighted four dyadic dynamics, which call into question the relevance of the term "honeymoon" to describe the experience of couples. RESULTS: While some couples appear to adjust by means of flexible functioning and a positive reinterpretation of this experience, other dyads oscillate between rigid hyperprotection in the face of perceived distress or a vicious circle of control/avoidance and, in some cases, gradually slipping towards the erosion of the relationship. DISCUSSION: These results show that the relational difficulties suffered by partners at this stage should be taken into account as soon as possible after the diagnosis. Strengthening the communication and the togetherness between partners, as well as working on dyadic emotional regulation, are particularly relevant options for these couples.


Assuntos
Doença de Parkinson , Humanos , Pesquisa Qualitativa , Comunicação , Saúde Pública , Cônjuges
7.
Mov Disord ; 37(8): 1761-1767, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35708213

RESUMO

BACKGROUND: Pathogenic variants in the LRRK2 gene are a common monogenic cause of Parkinson's disease. However, only seven variants have been confirmed to be pathogenic. OBJECTIVES: We identified two novel LRRK2 variants (H230R and A1440P) and performed functional testing. METHODS: We transiently expressed wild-type, the two new variants, or two known pathogenic mutants (G2019S and R1441G) in HEK-293 T cells, with or without LRRK2 kinase inhibitor treatment. We characterized the phosphorylation and kinase activity of the mutants by western blotting. Thermal shift assays were performed to determine the folding and stability of the LRRK2 proteins. RESULTS: The two variants were found in two large families and segregate with the disease. They display altered LRRK2 phosphorylation and kinase activity. CONCLUSIONS: We identified two novel LRRK2 variants which segregate with the disease. The results of functional testing lead us to propose these two variants as novel causative mutations for familial Parkinson's disease. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Assuntos
Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina , Doença de Parkinson , Células HEK293 , Humanos , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/genética , Mutação/genética , Doença de Parkinson/genética , Doença de Parkinson/patologia , Proteínas Serina-Treonina Quinases/genética
8.
Neurology ; 98(1): e51-e61, 2022 01 04.
Artigo em Inglês | MEDLINE | ID: mdl-34649875

RESUMO

BACKGROUND AND OBJECTIVE: PRRT2 variants have been reported in a few cases of patients with hemiplegic migraine. To clarify the role of PRRT2 in familial hemiplegic migraine, we studied this gene in a large cohort of affected probands. METHODS: PRRT2 was analyzed in 860 probands with hemiplegic migraine, and PRRT2 variations were identified in 30 probands. Genotyping of relatives identified a total of 49 persons with variations whose clinical manifestations were detailed. RESULTS: PRRT2 variations were found in 12 of 163 probands who previously tested negative for CACNA1A, ATP1A2, and SCN1A variations and in 18 of 697 consecutive probands screened simultaneously on the 4 genes. In this second group, pathogenic variants were found in 105 individuals, mostly in ATP1A2 (42%), followed by CACNA1A (26%), PRRT2 (17%), and SCN1A (15%). The PRRT2 variations included 7 distinct variants, 5 of which have already been described in persons with paroxysmal kinesigenic dyskinesia and 2 new variants. Eight probands had a deletion of the whole PRRT2 gene. Among the 49 patients with variations in PRRT2, 26 had pure hemiplegic migraine and 16 had hemiplegic migraine associated with another manifestation: epilepsy (8), learning disabilities (5), hypersomnia (4), or abnormal movement (3). Three patients had epilepsy without migraine: 2 had paroxysmal kinesigenic dyskinesia without migraine, and 1 was asymptomatic. DISCUSSION: PRRT2 should be regarded as the fourth autosomal dominant gene for hemiplegic migraine and screened in any affected patient, together with the 3 other main genes. Further studies are needed to understand how the same loss-of-function PRRT2 variations can lead to a wide range of neurologic phenotypes, including paroxysmal movement disorder, epilepsy, learning disabilities, sleep disorder, and hemiplegic migraine.


Assuntos
Transtornos de Enxaqueca , Enxaqueca com Aura , Hemiplegia , Humanos , Proteínas de Membrana/genética , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/genética , Enxaqueca com Aura/epidemiologia , Enxaqueca com Aura/genética , Mutação , Proteínas do Tecido Nervoso/genética , Linhagem
9.
Parkinsonism Relat Disord ; 89: 128-133, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34293534

RESUMO

BACKGROUND: In 2020 the coronavirus disease 19 (COVID-19) pandemic imposed a total and sudden lockdown. We aimed to investigate the consequences of the first COVID-19 lockdown (mid-March - mid-April 2020) on motor and non-motor symptoms (NMS) in a cohort of French people with Parkinson's disease (PwP). METHODS: PwP were enrolled either by an on-line survey sent from the national France Parkinson association (FP) to reach the French community of PwP or as part of outpatients' telemedicine visits followed by an hospital-based Parkinson Expert Center (PEC). All patients were evaluated using the same standardized questionnaire assessing motor and NMS (including a list of most disabling, new or worsened symptoms and Patient's Global Impression-Improvement scales [PGI-I]) psycho-social queries and quality of life. RESULTS: 2653 PwP were included: 441 (16.6%) in the PEC group and 2122 (83.4%) in the community-based group. Physiotherapy was interrupted among 88.6% of the patients. 40.9% referred a clinical modification of their symptoms. Based on the questionnaire, pain (9.3%), rigidity (9.1%) and tremor (8.5%) were the three most frequently new or worsened reported symptoms. Based on the PGI-I, the motor symptoms were the most affected domain, followed by pain and psychic state. PwP in community-based group tended to have more frequent worsening for motor symptoms, motor complications, pain and confusion than those of the PEC group. CONCLUSIONS: The first COVID-19 lockdown had a negative impact on motor and NMS of PwP. Efforts should be allocated to avoid interruption of care, including physiotherapy and physical activities and implement telemedicine. .


Assuntos
COVID-19 , Pandemias , Doença de Parkinson/terapia , Estudos de Coortes , Controle de Doenças Transmissíveis , França , Humanos , Rigidez Muscular/epidemiologia , Dor/epidemiologia , Doença de Parkinson/psicologia , Modalidades de Fisioterapia , Qualidade de Vida , Quarentena/psicologia , Consulta Remota , Inquéritos e Questionários , Telemedicina , Tremor/epidemiologia
10.
Front Psychol ; 12: 770334, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35140654

RESUMO

BACKGROUND/OBJECTIVE: Several studies have examined the impact of Parkinson's disease (PD) on the quality of couples' relationships. To date, few studies have explored how couples experience their relationship dynamic by taking into account the disease stage. The objectives of this study were to understand the experience of each partner and to study the mechanisms that underlie their couple organization in the advanced stage of PD. METHODS: Semistructured individual interviews conducted with fifteen patients and their partners were the subject of a dyadic interpretative phenomenological analysis. RESULTS: Three themes were identified from the analysis: the first, "A Closeness That Separates," allows the identification of different patterns of interactions that lead to emotional distancing between the partners; the second, "The Adversity Is Not Unbearable, But Going It Alone Would Be," emphasizes the importance of how the assisting partner provides support; and the third, "Be Prepared for Anything and Facing an Uncertain Future," reveals the extent and modes of the dyadic regulation of the emotions linked to what the future may hold. CONCLUSION: Psychological support is important to help couples express both their feelings and their respective needs in the evolving context of PD.

12.
Brain Imaging Behav ; 14(2): 329-335, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31444780

RESUMO

With disease progression, patients with Parkinson's disease (PD) may have chronic visual hallucinations (VH). The mechanisms behind this invalidating non-motor symptom remain largely unknown, namely because it is extremely difficult to capture hallucination events. This study aimed to describe the patterns of brain functional changes when VH occur in PD patients. Nine PD patients were enrolled because of their frequent and chronic VH (> 10/day). Patients with severe cognitive decline (MMSE<18) were excluded. Patients were scanned during ON/OFF hallucinatory states and resting-state functional imaging (rs-fMRI) was performed. Data were analyzed in reference to the two-step method, which consists in: (i) a data-driven analysis of per-hallucinatory fMRI data, and (ii) selection of the components of interest based on a post-fMRI interview. The phenomenology of VH ranged from visual spots to distorting faces. First, at the individual level, several VH-related components of interest were identified and integrated in a second-level analysis. Using a random-effects self-organizing-group ICA, we evidenced increased connectivity in visual networks concomitant to VH, encompassing V2, V3 and the fusiform gyri bilaterally. Interestingly, the stability of the default-mode network (DMN) was found positively correlated with VH severity (Spearman's rho = 0.77, p = 0.05). By using a method that does not need online self-report, we showed that VH in PD patients were associated with functional changes in associative visual cortices, possibly linked with strengthened stability of resting-state networks.


Assuntos
Alucinações/diagnóstico por imagem , Doença de Parkinson/diagnóstico por imagem , Doença de Parkinson/psicologia , Idoso , Encéfalo/fisiopatologia , Córtex Cerebral/fisiopatologia , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/fisiopatologia
13.
J Parkinsons Dis ; 9(4): 785-791, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31476170

RESUMO

BACKGROUND: Dyspnea is a multidimensional sensation that is reported in Parkinson's disease (PD). The multidimensional dyspnea profile (MDP) questionnaire can help to distinguish the perceptive dimension and the emotion response. OBJECTIVE: The aim was to assess the clinical features associated with dyspnea using the MDP questionnaire in order to determine which aspects of the symptom was linked with anxiety, depression or motor severity of the disease. METHODS: Non-demented patients were asked whether they experienced shortness of breath in the last month. In case of positive answer, dyspnea was assessed by the MDP. MDS-UPDRS, global cognitive performance, non-motor symptoms and quality of life were assessed. RESULTS: 60/163 patients were dyspneic since 4.6±2.4 years. The most frequent best sensory quality (SQ) described were: hyperpnoea (35%), physical breathing effort (25%) and air hunger (20%). Hyperpnoea and air hunger had the highest SQ intensity. Anxiety had the highest intensity in the emotional domain. CONCLUSION: Dyspnea is a frequent symptom in PD, with specific presentations and two main aspects: one related with anxiety and another with ventilation control impairment.


Assuntos
Dispneia/complicações , Dispneia/diagnóstico , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Idoso , Ansiedade/complicações , Ansiedade/diagnóstico , Depressão/complicações , Depressão/diagnóstico , Dispneia/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/psicologia , Escalas de Graduação Psiquiátrica , Índice de Gravidade de Doença , Inquéritos e Questionários
14.
Acta Neurochir (Wien) ; 161(7): 1353-1360, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31069530

RESUMO

BACKGROUND: In case of suspected normal pressure hydrocephalus, MRI is performed systematically and can sometimes highlight an obstruction of the flow pathways of the CSF (aqueductal stenosis or other downstream obstruction). It seems legitimate for these patients to ask the question of a treatment with endoscopic third ventriculostomy (ETV), even if the late decompensation of an obstruction may suggest an association with a CSF resorption disorder. The aim of this study was to evaluate clinical and radiological evolution after ETV in a group of elderly patients with an obstructive chronic hydrocephalus (OCH). METHODS: ETV was performed in 15 patients with OCH between 2012 and 2017. Morphometric (callosal angle, ventricular surface, third ventricular width, and Evans' index) and velocimetric parameters (stroke volume of the aqueductal (SVa) CSF) parameters were measured prior and after surgery with brain MRI. The clinical score (mini-mental status examination (MMSE) and the modified Larsson's score, evaluating walking, autonomy, and incontinence) were performed pre- and postoperatively. RESULTS: SVa was less than 15 µL/R-R in 12 out of the 15 patients; in the other three cases, the obstruction was located at a distance from the middle part of the aqueduct. Fourteen out of 15 patients were significantly improved: mean Larsson's score decreased from 3.8 to 0.6 (P ≤ 0.01) and mean MMSE increased from 25.7 to 28 (P = 0.084). Evans' index and ventricular area decreased postoperatively and the callosal angle increased (P ≤ 0.01). The mean follow-up lasted 17.9 months. No postoperative complications were observed. CONCLUSION: ETV seems to be a safe and efficient alternative to shunt for chronic hydrocephalus with obstruction; the clinical improvement is usual and ventricular size decreases slightly.


Assuntos
Hidrocefalia/cirurgia , Complicações Pós-Operatórias/epidemiologia , Ventriculostomia/efeitos adversos , Idoso , Endoscopia/efeitos adversos , Endoscopia/métodos , Feminino , Humanos , Hidrocefalia/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Terceiro Ventrículo/diagnóstico por imagem , Terceiro Ventrículo/cirurgia , Ventriculostomia/métodos
15.
Neurodegener Dis ; 19(1): 12-21, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31112944

RESUMO

BACKGROUND: Dysarthria in neurological disorders can have psychosocial consequences. The dysarthric speaker's perspective towards the disorder's psychosocial impact is essential in its global assessment and management. For such purposes, assessment tools such as the Dysarthria Impact Profile (DIP) are indispensable. OBJECTIVE: We aimed to confirm the relevance of using the DIP to quantify the psychosocial consequences of dysarthria in neurological diseases. METHODS: We studied 120 participants, 15 healthy controls and 105 patients with different kinds of dysarthria induced by several neurological disorders (Parkinson's disease [PD], Huntington's disease, dystonia, cerebellar ataxia, progressive supranuclear palsy [PSP], multiple system atrophy, lateral amyotrophic sclerosis). All participants underwent a cognitive evaluation and a speech intelligibility assessment and completed three self-reported questionnaires: the 36-Item Short Form Health Survey, the Voice Handicap Index (VHI), and the DIP. RESULTS: The psychometric properties of the DIP were confirmed, including internal consistency (α = 0.93), concurrent validity (correlation with the VHI: r = -0.77), and discriminant validity (accuracy = 0.93). Psychosocial impact of dysarthria was revealed by the DIP for all patients. Intelligibility loss was found strongly correlated with the psychosocial impact of dysarthria: for a similar level of intelligibility impairment, the DIP total score was similar regardless of the pathological group. However, our findings suggest that the psychosocial impact measured by the DIP could be partially independent from the severity of dysarthria (indirectly addressed here via speech intelligibility): the DIP was able to detect patients without any intelligibility impairment, but with a psychosocial impact. CONCLUSIONS: All patients reported a communication complaint, attested by the DIP scores, despite the fact that not all patients, notably PD, ataxic, and PSP patients, had an intelligibility deficit. The DIP should be used in clinical practice to contribute to a holistic evaluation and management of functional communication in patients with dysarthria.


Assuntos
Disartria/psicologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Barreiras de Comunicação , Disartria/etiologia , Disartria/reabilitação , Disartria/terapia , Feminino , Humanos , Masculino , Testes de Estado Mental e Demência , Pessoa de Meia-Idade , Doenças Neurodegenerativas/complicações , Medidas de Resultados Relatados pelo Paciente , Fenótipo , Psicologia , Psicometria , Índice de Gravidade de Doença , Inteligibilidade da Fala
16.
Arch Cardiovasc Dis ; 112(2): 82-94, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30600217

RESUMO

BACKGROUND: Convulsive syncope and epileptic seizure share many similar clinical features. Early diagnosis is critical for choosing the appropriate management strategy. AIM: Our aim was to evaluate the diagnostic yield of an innovative diagnostic strategy - combined head-up tilt test (HUT)/video electroencephalogram (EEG) monitoring - in patients with unexplained seizure-like transient loss of consciousness (T-LOC). METHODS: Combined HUT/video EEG was performed in patients with unexplained atypical T-LOC with both syncope and seizure characteristics remaining undiagnosed after a first-line investigation. T-LOC diagnosis was achieved in case of reproduction of usual symptoms. Events were classified as vasovagal, psychogenic or epilepsy. The link between EEG abnormalities and T-LOC was determined by an epilepsy specialist. Clinical follow-up was performed to assess T-LOC recurrence. RESULTS: Hundred and one consecutive patients were prospectively enrolled (median age 26 [19; 46] years; 72% female) and underwent combined HUT/video EEG between 2007 and 2015. Antiepileptic drugs were being prescribed in 42% of patients. Combined HUT/video EEG was diagnostic in 67% of patients, leading to diagnosis of vasovagal syncope in 59 patients and psychogenic pseudosyncope in nine cases. Antiepileptic drugs were discontinued in 18 patients without epilepsy. Independent predictors of a definitive diagnosis were the presence of prodromal symptoms (odds ratio 5.97, 95% confidence interval 1.37-26; P=0.017) and a history of myoclonic jerks during T-LOC (odds ratio 4.36, 95% confidence interval 1.71-11.15; P=0.002). CONCLUSIONS: Combined HUT/video EEG is useful for investigating recurrent unexplained atypical seizure-like T-LOC, especially in patients with a history of myoclonic jerks or with documented interictal non-specific EEG abnormalities.


Assuntos
Ondas Encefálicas , Encéfalo/fisiopatologia , Eletroencefalografia/métodos , Posicionamento do Paciente , Convulsões/diagnóstico , Síncope/diagnóstico , Teste da Mesa Inclinada , Inconsciência/etiologia , Gravação em Vídeo , Adulto , Anticonvulsivantes/uso terapêutico , Encéfalo/efeitos dos fármacos , Ondas Encefálicas/efeitos dos fármacos , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Convulsões/complicações , Convulsões/tratamento farmacológico , Convulsões/fisiopatologia , Síncope/complicações , Síncope/fisiopatologia , Inconsciência/fisiopatologia , Adulto Jovem
17.
Parkinsonism Relat Disord ; 60: 162-166, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30224267

RESUMO

INTRODUCTION: Dyspnea is one of the least well-characterized non-motor symptoms (NMS) associated with Parkinson's disease (PD). OBJECTIVE: To determine the frequency of dyspnea in a large, single-center cohort of consecutive PD patients with no history of lung or heart disease, and to compare clinical features in dyspneic vs. non-dyspneic patients. METHODS: Patients with abnormal cardiovascular and pulmonary results in a clinical examination were excluded. A positive response to at least one question ("In the last month, have you suffered from breathlessness?" and "In the last month, have you had trouble breathing normally?") was considered to signify the experience of dyspnea. MDS-UPDRS, global cognitive performance, non-motor symptoms and quality of life were assessed. RESULTS: In the cohort of 153 non-demented PD patients (mean age ±â€¯standard deviation: 63.9 ±â€¯7.4; mean disease duration: 9.2 ±â€¯6.1 years), the mean [95% confidence interval (CI)] frequency of dyspnea was 39.2% (31.5-47). After adjustment for disease severity, PD patients with dyspnea had a significantly higher Movement Disorders Society Unified Parkinson's Disease Rating Scale part I, II and IV scores, a higher HAD anxiety and depression scores and a significantly higher 8-item Parkinson's Disease Questionnaire. CONCLUSION: Dyspnea is a frequent NMS in PD. Its pathophysiology and prognostic value need more investigation.


Assuntos
Dispneia/etiologia , Dispneia/fisiopatologia , Doença de Parkinson/complicações , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Índice de Gravidade de Doença
18.
PLoS One ; 13(1): e0190400, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29329328

RESUMO

INTRODUCTION: In Parkinson's disease (PD), respiratory insufficiency (including functional and muscle disorders) can impact dysarthria and swallowing. Most studies of this topic have been performed retrospectively in populations of patients with advanced PD. The objective of the present study was to characterize lung function (under off-drug conditions) in early-stage PD patients at baseline and then again two years later. METHODS: Forty-one early-stage PD patients (mean ± SD age: 61.7 ± 7.7; mean ± SD disease duration: 1.9 ± 1.7 years) were prospectively enrolled and compared with 36 age-matched healthy controls. Neurological evaluations and pulmonary function testing were performed in the off-drug condition at the inclusion visit and then two years later. RESULTS: Pulmonary function testing did not reveal any restrictive or obstructive disorders; at baseline, inspiratory muscle weakness was the only abnormality observed in the PD group (in 53.7% of the patients, vs. 25% in controls; p = 0.0105). The PD patients had a lower mean maximal inspiratory mouth pressure than controls and a lower sniff nasal inspiratory pressure. Two years after the initiation of chronic treatment with antiparkinsonian medications, the maximal inspiratory mouth pressure and the sniff nasal inspiratory pressure tended to be higher. Lastly, overall motor outcomes were not significantly worse in patients with inspiratory muscle weakness than in patients without inspiratory muscle weakness. CONCLUSION: Inspiratory muscle weakness seems to be common in patients with early-stage PD, and was seen to be stable over a two-year period. Additional long-term follow-up studies are required to specify the impact of this new feature of PD.


Assuntos
Debilidade Muscular/fisiopatologia , Doença de Parkinson/fisiopatologia , Músculos Respiratórios/fisiopatologia , Adulto , Feminino , Humanos , Inalação , Masculino , Pessoa de Meia-Idade
19.
Sci Rep ; 6: 36284, 2016 11 14.
Artigo em Inglês | MEDLINE | ID: mdl-27841268

RESUMO

The pathophysiology of visual hallucinations in Parkinson's disease has yet to be characterized. Although stimulus-driven ("bottom-up") processes are known to be impaired, the role of "top-down" processes remains to be determined. Distinguishing between conscious and non-conscious detections (i.e. access to consciousness) may be a valuable way of monitoring top-down processes. Conscious access to visual inputs was investigated to identify the neural substrates underlying susceptibility to hallucinations in Parkinson's disease. Seventeen healthy controls, 18 Parkinson's disease patients with minor visual hallucinations and 16 without were enrolled in the study. During functional magnetic resonance imaging, the participants performed a visual detection task. The detection threshold was significantly higher in each patient group than in healthy controls while the two groups of patients did not differ significantly. Compared with hallucination-free patients, patients with minor hallucinations displayed hyperactivation of prefrontal and right occipital cortices, and hypoactivation of the left cingulate, temporal and occipital cortices. During conscious access to visual inputs, the functional network in patients with visual hallucinations differed from that seen in patients without visual hallucinations. This suggests that the supremacy of top-down processes in visual information processing may enhance susceptibility to hallucinations in Parkinson's disease.


Assuntos
Córtex Cerebral/fisiopatologia , Estado de Consciência , Alucinações/fisiopatologia , Doença de Parkinson/fisiopatologia , Percepção Visual , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
20.
PLoS One ; 11(9): e0162904, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27654040

RESUMO

BACKGROUND: Axial disorders are considered to appear late in the course of Parkinson's disease (PD). The associated impact on quality of life (QoL) and survival and the lack of an effective treatment mean that understanding and treating axial disorders is a key challenge. However, upper-body axial disorders (namely dysarthria, swallowing and breathing disorders) have never been prospectively assessed in early-stage PD patients. OBJECTIVES: To characterize upper-body axial symptoms and QoL in consecutive patients with early-stage PD. METHODS: We prospectively enrolled 66 consecutive patients with early-stage PD (less than 3 years of disease progression) and assessed dysarthria, dysphagia and respiratory function (relative to 36 controls) using both objective and patient-reported outcomes. RESULTS: The mean disease duration was 1.26 years and the mean UPDRS motor score was 19.4 out of 108. 74% of the patients presented slight dysarthria (primarily dysprosodia). Men appeared to be more severely affected (i.e. dysphonia). This dysfunction was strongly correlated with low swallowing speed (despite the absence of complaints about dysphagia), respiratory insufficiency and poor QoL. Videofluorography showed that oral-phase swallowing disorders affected 60% of the 31 tested patients and that pharyngeal-phase disorders affected 21%. 24% of the patients reported occasional dyspnea, which was correlated with anxiety in women but not in men. Marked diaphragmatic dysfunction was suspected in 42% of the patients (predominantly in men). CONCLUSION: Upper body axial symptoms were frequent in men with early-stage PD, whereas women presented worst non-motor impairments. New assessment methods are required because currently available tools do not reliably detect these upper-body axial disorders.

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