Heart rate variability in type 2 spinocerebellar ataxia

Montes-Brown, Julio; Sánchez-Cruz, Gilberto; García, Alejandro Mendoza; Báez, Mario Estévez; Velázquez‐Pérez, Luis

doi:10.1111/j.1600-0404.2009.01320.x

Cited by 12 publications

(9 citation statements)

References 28 publications

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“…This finding is in agreement with previous studies, reporting bladder and gastrointestinal symptoms as the most common autonomic features among SCA 2 patients [14, 15, 22]. …”

Section: Discussionsupporting

confidence: 94%

“…Symptoms of overactive bladder were the most frequent autonomic disturbance reported by patients with SCA 2 in the present study. This finding is in agreement with previous studies, reporting bladder and gastrointestinal symptoms as the most common autonomic features among SCA 2 patients [ 14 , 15 , 22 ].…”

Section: Discussionsupporting

confidence: 94%

“…Few clinical studies have previously examined autonomic function in patients with SCA2 [ 4 , 15 , 18 ]. Symptoms of orthostatic intolerance, gastrointestinal, urogenital and sweating disturbances were reported, but most studies were published prior to current consensus criteria for the diagnosis of orthostatic hypotension [ 10 ], did not always provide a comparison with age- and gender-matched healthy controls, nor assessed autonomic symptoms through validated questionnaires [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

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Autonomic function testing in spinocerebellar ataxia type 2

et al. 2018

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PurposeTo assess whether autonomic failure belongs to the clinical spectrum of spinocerebellar ataxia type 2 (SCA2), an autosomal dominant genetic disorder showing progressive cerebellar and brainstem dysfunction.MethodsWe evaluated cardiovascular autonomic function in 8 patients with SCA2 and 16 age- and gender-matched healthy controls. Other autonomic domains were examined through standardized questionnaires and by testing the skin sympathetic reflex.ResultsPatients with SCA2 showed normal responses to cardiovascular autonomic function tests, with the exception of lower baroreflex sensitivity upon standing compared to controls. In questionnaires, 7 out of 8 patients reported bladder disturbances, while 3 out of 6 tested patients had no skin sympathetic reflex.ConclusionsWe did not observe clinically overt cardiovascular autonomic failure in patients with SCA2. Other autonomic domains (i.e., bladder and sudomotor function) may be affected in the disease.Electronic supplementary materialThe online version of this article (10.1007/s10286-018-0504-4) contains supplementary material, which is available to authorized users.

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“…This finding is in agreement with previous studies, reporting bladder and gastrointestinal symptoms as the most common autonomic features among SCA 2 patients [14, 15, 22]. …”

Section: Discussionsupporting

confidence: 94%

Section: Discussionsupporting

confidence: 94%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Autonomic function testing in spinocerebellar ataxia type 2

et al. 2018

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“…On electrophysiological assessments, heart rate variability studies in SCA2 patients reveal a cardiovascular autonomic dysfunction in above 60% of individuals, which consists of abnormal responses to deep breathing and Valsalva maneuver, head-up tilt test, standing, hand gripping test, and others. Spectral analyses of resting heart rate variability disclose reductions of high frequency and low frequency power, suggesting the combined involvement of sympathetic and parasympathetic systems in the cardiovascular autonomic dysfunction ( 56 , 57 ).…”

Section: Phenotypical Featuresmentioning

confidence: 99%

Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches

2017

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Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia that occurs as a consequence of abnormal CAG expansions in the ATXN2 gene. Progressive clinical features result from the neurodegeneration of cerebellum and extra-cerebellar structures including the pons, the basal ganglia, and the cerebral cortex. Clinical, electrophysiological, and imaging approaches have been used to characterize the natural history of the disease, allowing its classification into four distinct stages, with special emphasis on the prodromal stage, which is characterized by a plethora of motor and non-motor features. Neuropathological investigations of brain tissue from SCA2 patients reveal a widespread involvement of multiple brain systems, mainly cerebellar and brainstem systems. Recent findings linking ataxin-2 intermediate expansions to other neurodegenerative diseases such as amyotrophic lateral sclerosis have provided insights into the ataxin-2-related toxicity mechanism in neurodegenerative diseases and have raised new ethical challenges to molecular predictive diagnosis of SCA2. No effective neuroprotective therapies are currently available for SCA2 patients, but some therapeutic options such as neurorehabilitation and some emerging neuroprotective drugs have shown palliative benefits.

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“…1,8 Por otro lado, investigaciones cubanas han demostrado la existencia de síntomas y signos disautonómicos en varios pacientes. 9,10 Otros signos de la enfermedad son los trastornos cognitivos, en especial las disfunciones frontoejecutivas, de la atención, concentración y la memoria. Sin embargo, es poco usual que los pacientes progresen hasta demencias.…”

Section: Caracterización Clínica De La Sca2unclassified