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1.
J Parkinsons Dis ; 14(3): 399-414, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38489198

RESUMEN

 The movement toward prevention trials in people at-risk for Parkinson's disease (PD) is rapidly becoming a reality. The authors of this article include a genetically at-risk advocate with the LRRK2 G2019 S variant and two patients with rapid eye movement sleep behavior disorder (RBD), one of whom has now been diagnosed with PD. These authors participated as speakers, panelists, and moderators in the "Planning for Prevention of Parkinson's: A Trial Design Forum" hosted by Massachusetts General Hospital in 2021 and 2022. Other authors include a young onset person with Parkinson's (PwP) and retired family physician, an expert in patient engagement in Parkinson's, and early career and veteran movement disorders clinician researchers. Several themes emerged from the at-risk participant voice concerning the importance of early intervention, the legitimacy of their input in decision-making, and the desire for transparent communication and feedback throughout the entire research study process. Challenges and opportunities in the current environment include lack of awareness among primary care physicians and general neurologists about PD risk, legal and psychological implications of risk disclosure, limited return of individual research study results, and undefined engagement and integration of individuals at-risk into the broader Parkinson's community. Incorporating the perspectives of individuals at-risk as well as those living with PD at this early stage of prevention trial development is crucial to success.


Asunto(s)
Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/prevención & control , Trastorno de la Conducta del Sueño REM/etiología , Trastorno de la Conducta del Sueño REM/prevención & control , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina/genética , Predisposición Genética a la Enfermedad , Masculino , Investigación Biomédica
2.
Neurorehabil Neural Repair ; 35(7): 611-621, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33978530

RESUMEN

Parkinson disease (PD) and other related diseases with α-synuclein pathology are associated with a long prodromal or preclinical stage of disease. Predictive models based on diagnosis of idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) make it possible to identify people in the prodromal stage of synucleinopathy who have a high probability of future disease and provide an opportunity to implement neuroprotective therapies. However, rehabilitation providers may be unaware of iRBD and the motor abnormalities that indicate early motor system dysfunction related to α-synuclein pathology. Furthermore, there is no existing rehabilitation framework to guide early interventions for people with iRBD. The purpose of this work is to (1) review extrapyramidal signs of motor system dysfunction in people with iRBD and (2) propose a framework for early protective or preventive therapies in prodromal synucleinopathy using iRBD as a predictive marker. Longitudinal and cross-sectional studies indicate that the earliest emerging motor deficits in iRBD are bradykinesia, deficits performing activities of daily living, and abnormalities in speech, gait, and posture. These deficits may emerge up to 12 years before a diagnosis of synucleinopathy. The proposed rehabilitation framework for iRBD includes early exercise-based interventions of aerobic exercise, progressive resistance training, and multimodal exercise with rehabilitation consultations to address exercise prescription, progression, and monitoring. This rehabilitation framework may be used to implement neuroprotective, multidisciplinary, and proactive clinical care in people with a high likelihood of conversion to PD, dementia with Lewy bodies, or multiple systems atrophy.


Asunto(s)
Discinesias , Terapia por Ejercicio , Rehabilitación Neurológica , Síntomas Prodrómicos , Trastorno de la Conducta del Sueño REM , Sinucleinopatías , Discinesias/etiología , Discinesias/fisiopatología , Discinesias/prevención & control , Discinesias/rehabilitación , Humanos , Trastorno de la Conducta del Sueño REM/complicaciones , Trastorno de la Conducta del Sueño REM/fisiopatología , Trastorno de la Conducta del Sueño REM/prevención & control , Trastorno de la Conducta del Sueño REM/rehabilitación , Sinucleinopatías/complicaciones , Sinucleinopatías/fisiopatología , Sinucleinopatías/prevención & control , Sinucleinopatías/rehabilitación
3.
Psiquiatr. biol. (Internet) ; 23(2): 80-83, mayo-ago. 2016. tab
Artículo en Español | IBECS | ID: ibc-153661

RESUMEN

El trastorno de conducta durante el sueño REM (TCSR) es una parasomnia que no debe ser considerada como un simple trastorno del sueño, sino como una manifestación de una enfermedad neurológica, pues puede constituir hasta en un 50% de casos un síntoma inicial de una enfermedad neurodegenerativa (especialmente de la enfermedad de Parkinson y la demencia por cuerpos de Lewy), circunstancia que hace imprescindible el conocimiento de este síndrome por parte del psiquiatra, pues por su consulta transitarán muchos de estos pacientes, que deberemos redirigir para completar el estudio y realizar el diagnóstico definitivo, que además de clínico, requiere un estudio polisomnográfico de confirmación. Esto facilitará un diagnóstico precoz de la enfermedad neurológica. El TCSR se manifiesta como sueños vívidos o pesadillas asociadas a conductas motoras y vocales vigorosas, simples o complejas, durante el sueño y falta de la atonía fisiológica durante la fase REM. Los pacientes parecen «actuar sus sueños», que a menudo incluyen temáticas de persecución o lucha. Habitualmente ocurre en hombres a partir de 55 años. Su prevalencia se desconoce, aunque se estima entre un 0,5-2%. Parece que los antidepresivos, especialmente los ISRS, pueden desencadenar el cuadro. La depresión comórbida es frecuente. El tratamiento más eficaz es el clonazepam a dosis bajas (0,5-3 mg antes del sueño), que resulta exitoso hasta en el 89,5% de pacientes, asociado a consejo (AU)


REM sleep behaviour disorder (RBD) is classified as a parasomnia. However, it should not be considered as a simple sleep disorder, but as a manifestation of a neurological disease, since it can be an initial symptom of a neurodegenerative disorder in up to 50% of cases (especially Parkinson's disease and Lewy bodies dementia). It is essential that psychiatrists are aware of this syndrome, as many of these patients are first seen in psychiatric outpatient clinics. Psychiatrists should be redirected to complete the study and make the final diagnosis, which also requires confirmation by polysomnography. RBD manifests as vivid dreams or nightmares associated with simple or complex vigorous motor and vocal behaviours during REM sleep. This will facilitate early diagnosis of neurological disease. Patients appear to ‘act out their dreams’, which often include themes of persecution or fight. It usually occurs in men over 55 years. Its prevalence is unknown, but is estimated at between 0.5% and 2%. Antidepressants, especially SSRIs, seem to trigger the disorder. Comorbid depression is common. The most effective treatment is clonazepam at low doses (0.5-3 mg before sleep), which is successful in up to 89.5% of patients, with associated counselling (AU)


Asunto(s)
Humanos , Masculino , Anciano , Trastorno de la Conducta del Sueño REM/complicaciones , Trastorno de la Conducta del Sueño REM/diagnóstico , Trastorno de la Conducta del Sueño REM/tratamiento farmacológico , Depresión/complicaciones , Depresión/diagnóstico , Psiquiatría Biológica/métodos , Psiquiatría Biológica/tendencias , Antidepresivos/uso terapéutico , Trastorno de la Conducta del Sueño REM/prevención & control , Trastorno de la Conducta del Sueño REM/fisiopatología , Trastorno de la Conducta del Sueño REM/psicología , Citalopram/uso terapéutico
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