Autonomic function testing in spinocerebellar ataxia type 2

Indelicato, Elisabetta; Fanciulli, Alessandra; Ndayisaba, Jean‐Pierre; Nachbauer, Wolfgang; Granata, Roberta; Wanschitz, Julia; Wagner, M.; Gizewski, Elke R.; Poewe, Werner; Wenning, Gregor K.; Boesch, Sylvia

doi:10.1007/s10286-018-0504-4

Cited by 14 publications

(8 citation statements)

References 25 publications

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“…CAFTs allow the detection of orthostatic hypotension (OH), namely a sustained BP drop ≥ 20 mmHg systolic or ≥ 10 mmHg diastolic or an absolute systolic BP value < 90 mmHg after 3 min of head-up tilt or active standing, and ascertain its neurogenic origin [11,12]. Hereditary cerebellar ataxias and SAOA may experience various autonomic symptoms [7,13,14], but orthostatic hypotension is rare [15] and its detection enables the diagnosis of "possible MSA-C", according to international criteria [6]. A severe orthostatic hypotension, namely a BP fall > 30 mmHg systolic or > 15 mmHg diastolic is required to diagnose "probable" MSA-C [6].…”

Section: Introductionmentioning

confidence: 99%

Cardiovascular autonomic testing in the work-up of cerebellar ataxia: insight from an observational single center study

et al. 2019

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Background Cerebellar ataxias are a heterogeneous group of disorders of both genetic and non-genetic origin. In sporadic cases, two entities are recognized: multiple system atrophy of cerebellar type (MSA-C) and SAOA (sporadic adult-onset ataxia). The presence of severe cardiovascular autonomic failure reliably distinguishes MSA-C from other ataxias, but it may appear only late in the disease course. Objective To evaluate the diagnostic yield of cardiovascular autonomic function tests in the work-up of cerebellar ataxia. Methods We applied a cardiovascular autonomic tests battery in consecutive patients with neurodegenerative cerebellar ataxia and matched healthy controls. We recorded the presence of both orthostatic hypotension (OH) and blood pressure falls non-fulfilling the criteria of OH (non-OH BP). Sporadic cases were followed-up for an eventual conversion to MSA-C. Results Forty-two patients were recruited, 19 of whom with sporadic disease (2 probable MSA-C, 6 possible MSA-C, 11 SAOA). Sporadic and hereditary cases showed no difference concerning ataxia severity at baseline. At head-up tilt, non-OH BP falls were detected in nine patients, but not in controls. This finding was significantly more frequent in sporadic cases (p = 0.006) and was detected in five out of seven patients that during follow-up converted to possible/probable MSA-C. Findings at standing test were normal in four out of nine cases with non-OH BP falls at head-up tilt. Conclusions A complete cardiovascular autonomic battery with head-up tilt can detect early signs of BP dysregulation which may be missed at bedside tests, thus warranting its application in the first line work-up of cerebellar ataxias.

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Section: Introductionmentioning

confidence: 99%

Cardiovascular autonomic testing in the work-up of cerebellar ataxia: insight from an observational single center study

et al. 2019

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“…There is no significant correlation with CAG repeat length [9]. Autonomic neurophysiologic evaluation usually unveil urinary, gastrointestinal, and sweat dysfunction, while cardiac neuropathy abnormality is controversial [17].…”

Section: Spinocerebellar Ataxias (Autosomal Dominant)-scasmentioning

confidence: 99%

The Intersection Between Cerebellar Ataxia and Neuropathy: a Proposed Classification and a Diagnostic Approach

et al. 2021

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Neuropathy is a common associated feature of different types of genetic or sporadic cerebellar ataxias. The pattern of peripheral nerve involvement and its associated clinical features can be an invaluable aspect for narrowing the etiologic diagnosis in the investigation of cerebellar ataxias. In this review, we discuss the differential diagnosis of the intersection between peripheral nerve and cerebellar involvement, and classify them in accordance with the predominant features. Genetics, clinical features, neuroimaging, and neurophysiologic characteristics are discussed. Furthermore, a diagnostic approach for cerebellar ataxia with neuropathy is proposed according to the different clinical characteristics. This is an Educational and Descriptive review with the aim of medical education for the approach to the patients with cerebellar ataxia and neuropathy. The diagnostic approach to the patient with cerebellar ataxia with neuropathy requires a detailed medical history, phenotyping, characterization of disease progression and family history. Neuroimaging features and the neurophysiological findings play pivotal roles in defining the diagnosis. Establishing an organized classification method for the disorders based on the clinical features may be very helpful, and could be divided as those with predominant cerebellar features, predominant neuropathic feature, or conditions with both cerebellar ataxia and neuropathy. Second, determining the mode of inheritance is critical on cerebellar ataxias: autosomal dominant and recessive cerebellar ataxias, mitochondrial or sporadic types. Third, one must carefully assess neurophysiologic findings in order to better characterize the predominant pattern of involvement: damage location, mechanism of lesion (axonal or demyelinating), motor, sensory or sensory motor compromise, large or small fibers, and autonomic system abnormalities.

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“…Interestingly, earlier reports indicated that cardiovascular autonomic failure with OH may be found in up to 25% people with SCA 3 mutations, with one study also reporting cardiac sympathetic denervation at 123 I-MIBG-SPECT [91,92]. At present, neurogenic OH seems to yield a limited diagnostic accuracy for distinguishing MSA-C from autosomal dominant cerebellar ataxia, particularly SCA 3 and 17, but further studies in larger independent cohorts with combined CAFT and cardiac 123 I-MIBG-SPECT are needed to clarify this issue [34,76,[89][90][91][92]. Whereas it is not generally recommended to perform genetic testing in individuals with clinically established MSA [4], this may be considered in case of positive family history, isolated cerebellar atrophy at neuroimaging or mild, non-progressive forms of autonomic failure [88,89].…”

Section: Cerebellar Ataxiamentioning

confidence: 99%

The role of cardiovascular autonomic failure in the differential diagnosis of α-synucleinopathies

2021

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The α-synucleinopathies comprise a group of adult-onset neurodegenerative disorders including Parkinson’s disease (PD), multiple system atrophy (MSA), dementia with Lewy bodies (DLB,) and — as a restricted non-motor form — pure autonomic failure (PAF). Neuropathologically, the α-synucleinopathies are characterized by aggregates of misfolded α-synuclein in the central and peripheral nervous system. Cardiovascular autonomic failure is a common non-motor symptom in people with PD, a key diagnostic criterion in MSA, a supportive feature for the diagnosis of DLB and disease-defining in PAF. The site of autonomic nervous system lesion differs between the α-synucleinopathies, with a predominantly central lesion pattern in MSA versus a peripheral one in PD, DLB, and PAF. In clinical practice, overlapping autonomic features often challenge the differential diagnosis among the α-synucleinopathies, but also distinguish them from related disorders, such as the tauopathies or other neurodegenerative ataxias. In this review, we discuss the differential diagnostic yield of cardiovascular autonomic failure in individuals presenting with isolated autonomic failure, parkinsonism, cognitive impairment, or cerebellar ataxia.

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Autonomic function testing in spinocerebellar ataxia type 2

Cited by 14 publications

References 25 publications

Cardiovascular autonomic testing in the work-up of cerebellar ataxia: insight from an observational single center study

Cardiovascular autonomic testing in the work-up of cerebellar ataxia: insight from an observational single center study

The Intersection Between Cerebellar Ataxia and Neuropathy: a Proposed Classification and a Diagnostic Approach

The role of cardiovascular autonomic failure in the differential diagnosis of α-synucleinopathies

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