Autonomic nervous system abnormalities in spinocerebellar ataxia type 2: A cardiovascular neurophysiologic study

Joanna, Gabriella De; Rosa, Anna De; Salvatore, Elena; Castaldo, Imma; Luca, Nicola De; Izzo, Raffaele; Manzo, Valentino; Filla, Alessandro; Michele, Giuseppe De

doi:10.1016/j.jns.2008.07.015

Cited by 28 publications

(17 citation statements)

References 12 publications

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“…A cardiovascular neurophysiologic examination revealed vagal or sympathetic abnormalities in most patients 38. A cardiac sympathetic dysfunction is also present, and similar but less marked than that found in Parkinson disease 39…”

Section: Clinical Featuresmentioning

confidence: 64%

The Multiple Faces of Spinocerebellar Ataxia type 2

Antenora

Rinaldi

Roca

et al. 2017

Ann Clin Transl Neurol

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Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families. Occurrence is higher in specific populations such as the Cuban and Southern Italian. The disease is caused by a CAG expansion in ATXN2 gene, leading to abnormal accumulation of the mutant protein, ataxin‐2, in intracellular inclusions. The clinical picture is mainly dominated by cerebellar ataxia, although a number of other neurological signs have been described, ranging from parkinsonism to motor neuron involvement, making the diagnosis frequently challenging for neurologists, particularly when information about the family history is not available. Although the functions of ataxin‐2 have not been completely elucidated, the protein is involved in mRNA processing and control of translation. Recently, it has also been shown that the size of the CAG repeat in normal alleles represents a risk factor for ALS, suggesting that ataxin‐2 plays a fundamental role in maintenance of neuronal homeostasis.

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Section: Clinical Featuresmentioning

confidence: 64%

The Multiple Faces of Spinocerebellar Ataxia type 2

Antenora

Rinaldi

Roca

et al. 2017

Ann Clin Transl Neurol

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show abstract

“…Other studies reported cardiovascular autonomic abnormalities in SCA2 patients, but the magnitude of BP fall and/or tachycardia response were not specified [4], or different criteria were applied to diagnose orthostatic hypotension [18]. Another case report on early onset SCA2 pointed out a marked autonomic dysfunction as part of the phenotypic spectrum, but related symptoms were not described [19].…”

Section: Discussionmentioning

confidence: 99%

“…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%

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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“…In this article's case, the Chariker-Jeter method was selected as the patient's best therapeutic strategy because chronic pain and autonomic nervous system degeneration/dysfunction, which involves the gastrointestinal tract, including dysmotility (dysphagia, pseudo-obstruction, hypotonia, and hypomotility), are common and well characterized in patients with spinocerebellar ataxia. 12,13 This method was also chosen here based on the strategy of reducing the frequency of dressing changes and reducing the pain caused by repeat dressing changes and by the therapy itself. The application of continuous negative pressure was of particular importance, as sudden spikes between highand low-pressure values typical of NPWT intermittent systems have been associated with increased pain.…”

Section: Discussionmentioning

confidence: 99%