Autonomic function testing in Friedreich’s ataxia

Indelicato, Elisabetta; Fanciulli, Alessandra; Ndayisaba, Jean‐Pierre; Nachbauer, Wolfgang; Eigentler, Andreas; Granata, Roberta; Wanschitz, Julia; Poewe, Werner; Wenning, Gregor K.; Boesch, Sylvia

doi:10.1007/s00415-018-8946-0

Cited by 16 publications

(13 citation statements)

References 28 publications

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“…and Takazaki et al . found similar results in a closely related heredodegenerative disorder – Friedreich's ataxia – and also considered deconditioning as a reasonable explanation .…”

Section: Discussionsupporting

confidence: 66%

“…Our belief is that this is not a true sign of autonomic failure, but instead may be related to poor physical conditioning due to motor handicap. Indelicato et al and Takazaki et al found similar results in a closely related heredodegenerative disorder -Friedreich's ataxiaand also considered deconditioning as a reasonable explanation [23,24]. The QSART is a well validated test to assess sympathetic sudomotor functioning [25].…”

Section: Discussionmentioning

confidence: 74%

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Autonomic dysfunction in hereditary spastic paraplegia type 4

González-Salazar

Takazaki

Martínez

et al. 2019

Euro J of Neurology

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Background and purpose SPAST mutations are the most common cause of hereditary spastic paraplegia (SPG4‐HSP), which is characterized by progressive lower limb weakness, spasticity and hyperreflexia. There are few studies about non‐motor manifestations in this disease and none about autonomic involvement. Therefore, the aim was to determine the frequency and pattern of autonomic complaints in patients with SPG4‐HSP, as well as to determine the clinical relevance and the possible factors associated with these manifestations. Methods Thirty‐four molecularly confirmed SPG4 patients were recruited in a multicenter cross‐sectional study, of whom 26 underwent detailed neurophysiological testing (heart rate variability, sympathetic skin response and the Quantitative Sudomotor Axonal Reflex Test). The Scales for Outcomes in Parkinson's Disease – Autonomic Questionnaire (SCOPA‐AUT) was applied to quantify the severity of autonomic symptoms. Results were compared with 44 age‐ and gender‐matched healthy controls using non‐parametric tests. P values <0.05 were considered significant. Results In the SPG4‐HSP group, there were 18 men with a mean age of 47.7 ± 12.6 years. SCOPA‐AUT scores were similar between patients and controls (P = 0.238). Only the urinary domain subscore was significantly higher amongst patients (4 vs. 2.5, P = 0.05). Absent sympathetic skin response in the hands and feet was more frequent amongst patients (20% vs. 0%, P < 0.001, and 64% vs. 0%, P = 0.006, respectively). Quantitative Sudomotor Axonal Reflex Test responses were also smaller throughout all recording regions in the SPG4‐HSP group. Conclusion Our results indicate that SPG4‐HSP patients have sudomotor dysfunction caused by damaged small post‐ganglionic cholinergic fibers. Damage in SPG4‐HSP extends to the peripheral nervous system.

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“…and Takazaki et al . found similar results in a closely related heredodegenerative disorder – Friedreich's ataxia – and also considered deconditioning as a reasonable explanation .…”

Section: Discussionsupporting

confidence: 66%

Section: Discussionmentioning

confidence: 74%

Autonomic dysfunction in hereditary spastic paraplegia type 4

González-Salazar

Takazaki

Martínez

et al. 2019

Euro J of Neurology

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“… 79 Increased heart rate at rest and during orthostatic challenge is the most common autonomic abnormality in FRDA patients. 80 Cardiovascular dysfunction, however, is primarily due to heart disease rather than dysautonomia.…”

Section: Affected Systems In Frdamentioning

confidence: 99%

Central Nervous System Therapeutic Targets in Friedreich Ataxia

et al. 2020

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Friedreich ataxia (FRDA) is an autosomal recessive inherited multisystem disease, characterized by marked differences in the vulnerability of neuronal systems. In general, the proprioceptive system appears to be affected early, while later in the disease, the dentate nucleus of the cerebellum and, to some degree, the corticospinal tracts degenerate. In the current era of expanding therapeutic discovery in FRDA, including progress toward novel gene therapies, a deeper and more specific consideration of potential treatment targets in the nervous system is necessary. In this work, we have reexamined the neuropathology of FRDA, recognizing new issues superimposed on classical findings, and dissected the peripheral nervous system (PNS) and central nervous system (CNS) aspects of the disease and the affected cell types. Understanding the temporal course of neuropathological changes is needed to identify areas of modifiable disease progression and the CNS and PNS locations that can be targeted at different time points. As most major targets of longterm therapy are in the CNS, this review uses multiple tools for evaluation of the importance of specific CNS locations as targets. In addition to clinical observations, the conceptualizations in this study include physiological, pathological, and imaging approaches, and animal models. We believe that this review, through analysis of a more complete set of data derived from multiple techniques, provides a comprehensive summary of therapeutic targets in FRDA.

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“…5,10,13,14,18 Cardiovascular dysautonomia is very rare, 28 but some patients may show tachycardia at rest and during orthostatic challenge. 29,30 Early markers of myocardial dysfunction in cases with normal left ventricular ejection fraction include reduced longitudinal myocardial strain on echocardiography 31 and signs of cardiac remodeling on cardiovascular magnetic resonance. 32,33 Patients with progressive declining left ventricular ejection fraction, usually below 55%, have worse outcome.…”

Section: Frda (Or Atx-fxn)mentioning

confidence: 99%

Cardiac Involvement in Movement Disorders

Rossi

Wainsztein

Merello

2021

Movement Disord Clin Pract

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BackgroundBackground: Several conditions represented mainly by movement disorders are associated with cardiac disease, which can be overlooked in clinical practice in the context of a prominent primary neurological disorder. Objectives Objectives: To review neurological conditions that combine movement disorders and primary cardiac involvement. Methods Methods: A comprehensive and structured literature search following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses criteria was conducted to identify disorders combining movement disorders and cardiac disease. ResultsResults: Some movement disorders are commonly or prominently associated with cardiac disease. Neurological and cardiac symptoms may share underlying physiopathological mechanisms in diseases, such as Friedreichʼs ataxia and Wilsonʼs disease, and in certain metabolic disorders, including Refsum disease, Gaucher disease, a congenital disorder of glycosylation, or cerebrotendinous xanthomatosis. In certain conditions, such as Sydenhamʼs chorea or dilated cardiomyopathy with ataxia syndrome (ATX-DNAJC19), heart involvement can present early in the course of disease, whereas in others such as Friedreichʼs ataxia or Refsum disease, cardiac symptoms tend to present in later stages. In another 68 acquired or inherited conditions, cardiac involvement or movement disorders are seldom reported. Conclusions Conclusions: As cardiac disease is part of the phenotypic spectrum of several movement disorders, heart involvement should be carefully investigated and increased awareness of this association encouraged as it may represent a leading cause of morbidity and mortality.Cardiac abnormalities may be a significant source of morbidity and premature mortality [1][2][3][4] and can occur in numerous neurological diseases, manifesting as cardiomyopathy, arrhythmias, conduction defects, structural malformations, coronary disease, valvulopathies, or cardiac autonomic dysfunction. In neurological conditions mainly manifested by movement disorders, cardiac disease can be a frequent and predominant clinical feature, or only be reported in isolated cases, and can be of early presentation, or occur only during later stages of disease. 5,6 In diseases such as Friedreichʼs ataxia (FRDA), where the need for heart monitoring is well established, a cross-sectional healthcare resource study revealed that recommended annual cardiac evaluations had not been conducted in up to 23% of patients with FRDA in the United States and 14% in Canada. 7 These figures may be even higher in other parts of the world.In this educational review, we describe and list movement disorders with cardiac involvement as part of the clinical picture. MethodsA comprehensive and structured search in PubMed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines (http://www.prismastatement.org) was conducted.

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Autonomic function testing in Friedreich’s ataxia

Cited by 16 publications

References 28 publications

Autonomic dysfunction in hereditary spastic paraplegia type 4

Autonomic dysfunction in hereditary spastic paraplegia type 4

Central Nervous System Therapeutic Targets in Friedreich Ataxia

Cardiac Involvement in Movement Disorders

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