scholarly journals Predicting phenoconversion in pure autonomic failure

Neurology ◽  
2020 ◽  
Vol 95 (7) ◽  
pp. e889-e897 ◽  
Author(s):  
Elizabeth A. Coon ◽  
Jay N. Mandrekar ◽  
Sarah E. Berini ◽  
Eduardo E. Benarroch ◽  
Paola Sandroni ◽  
...  
Keyword(s):  
Autonomic Failure ◽  
Age At Onset ◽  
Lewy Bodies ◽  
Pure Autonomic Failure ◽  
Predicting Factors ◽  
Increased Risk ◽  
Patients At Risk ◽  
Laboratory Variables ◽  
Bladder Symptoms ◽  
Cognitive Involvement

ObjectiveTo determine predicting factors and frequency of phenoconversion from pure autonomic failure (PAF) into a synucleinopathy with motor or cognitive involvement of multiple system atrophy (MSA), Parkinson disease (PD), or dementia with Lewy bodies (DLB).MethodsWe performed a retrospective review of all patients with PAF from 2001 to 2011 evaluated at Mayo Clinic, Rochester. Clinical follow-up and patient telephone calls were used to assess for development of symptoms and diagnosis of MSA, PD, or DLB. Clinical and laboratory variables were extracted with factors predictive of evolution assessed using group comparison, odds ratio, and logistical regression.ResultsAmong 275 patients with PAF at presentation, 67 (24%) phenoconverted to a synucleinopathy with motor or cognitive involvement; 34 met criteria for MSA, while 33 met criteria for PD or DLB. Age at onset was younger in MSA phenoconverters. Clinical features at presentation influenced phenoconversion: severe bladder symptoms were more common in MSA phenoconverters; subtle motor signs were more frequent in MSA and PD/DLB phenoconverters. MSA phenoconverters were more likely to have higher supine norepinephrine levels and preganglionic pattern of anhidrosis. Presentation variables predicting MSA phenoconversion included subtle motor signs, supine norepinephrine levels, severe bladder symptoms, and dream enactment behavior. Presentation variables predictive of PD/DLB phenoconversion included subtle motor signs, dream enactment behavior, and constipation.ConclusionsOur findings suggest that at least a quarter of patients with PAF phenoconvert to MSA, PD, or DLB. Presentation features determine patients at risk for evolution with specific patterns indicative of phenoconversion to MSA vs PD/DLB.Classification of evidence:This study provides Class II evidence that several presentation variables including subtle motor signs, severe bladder symptoms, and dream enactment behavior are associated with an increased risk of developing a synucleinopathy with motor or cognitive involvement.

scholarly journals Pure autonomic failure

Neurology ◽  
2017 ◽  
Vol 88 (12) ◽  
pp. 1129-1136 ◽  
Author(s):  
Wolfgang Singer ◽  
Sarah E. Berini ◽  
Paola Sandroni ◽  
Robert D. Fealey ◽  
Elizabeth A. Coon ◽  
...  
Keyword(s):  
Bladder Dysfunction ◽  
Autonomic Failure ◽  
Lewy Bodies ◽  
Pure Autonomic Failure ◽  
Cns Involvement ◽  
Sweat Loss ◽  
Mild Degree ◽  
Several Variables ◽  
Laboratory Variables

Objective:Based on the observation that a subset of patients originally diagnosed with pure autonomic failure (PAF) eventually develops extrapyramidal or cerebellar involvement consistent with multiple system atrophy (MSA), Parkinson disease (PD), or dementia with Lewy bodies (DLB), we aimed to identify predictors of progression of PAF to more sinister synucleinopathies.Methods:In this retrospective cohort study, we reviewed patients seen at Mayo Clinic Rochester by autonomic specialists between 2001 and 2011 and during initial evaluation diagnosed with orthostatic hypotension consistent with PAF (possible PAF). In order to assess for the presence or absence of progression, we identified patients with 3 years or more of in-person follow-up (stable PAF) or documented progression to another synucleinopathy (converters). To identify predictors of conversion, we assessed odds of conversion based on clinical, autonomic, and laboratory variables.Results:Among 318 patients fulfilling criteria for possible PAF, we identified 41 with stable PAF and 37 (12%) converters. Of those who evolved, 22 developed MSA, 11 developed PD/DLB, and 4 remained indeterminate. Several variables were identified to predict conversion to MSA: (1) mild degree of cardiovagal impairment, (2) preganglionic pattern of sweat loss, (3) severe bladder dysfunction, (4) supine norepinephrine >100 pg/mL, and (5) subtle motor signs at first presentation. Separate variables were found to predict conversion to PD/DLB. Composite conversion scores were generated based on individual predictors.Conclusions:Over 10% of patients originally diagnosed with PAF eventually evolve to develop CNS involvement, most commonly MSA. A combination of variables allows for prediction of conversion.

DISTRIBUTION OP LEWY BODIES IN PURE AUTONOMIC FAILURE

1996 ◽  
Vol 55 (5) ◽  
pp. 633
Author(s):  
K. Hague ◽  
S. Caro ◽  
H. Kaufmann ◽  
P. Lento ◽  
S. Morgello
Keyword(s):  
Autonomic Failure ◽  
Lewy Bodies ◽  
Pure Autonomic Failure

scholarly journals The Role of SNCA Rep1 Microsatellite in Parkinson’s Disease Progression

2017 ◽  
Author(s):  
Lucia Corrado ◽  
Fabiola De Marchi ◽  
Sara Tunesi ◽  
Gaia Oggioni ◽  
Miryam Carecchio ◽  
...  
Keyword(s):  
Disease Progression ◽  
Age At Onset ◽  
Freezing Of Gait ◽  
Lewy Bodies ◽  
Alpha Synuclein ◽  
Cognitive Outcomes ◽  
Cognitive Outcome ◽  
Visual Hallucinations ◽  
Increased Risk ◽  
Wearing Off

α-synuclein is a constituent of Lewy bodies and mutations of its gene cause familial PD. A previous study showed that a variant of α-synuclein gene (SNCA), namely the 263bp allele of Rep1 was associated to faster motor progression in PD. On the contrary, a recent report failed to detect a detrimental effect of Rep1 263 on both motor and cognitive outcomes in PD. Aim of this study was to evaluate the influence of the Rep1 variants on disease progression in Parkinson’s Disease (PD) patients. We recruited and genotyped for SNCA-Rep1 426 PD patients with age at onset ≥40 years and disease duration ≥4 years. We then analyzed frequency and time of occurrence of wearing-off, dyskinesia, freezing of gait, visual hallucinations and dementia. SNCA Rep1 263 carriers showed increased risk of both dementia (HR=3.03) and visual hallucinations (HR=2.69) compared to 263 non-carriers. In conclusion, SNCA Rep 1 263 allele is associated to a worst cognitive outcome in PD.

Different phenoconversion pathways in pure autonomic failure with versus without Lewy bodies

2021 ◽  
Author(s):  
David S. Goldstein ◽  
Risa Isonaka ◽  
Guillaume Lamotte ◽  
Horacio Kaufmann
Keyword(s):  
Autonomic Failure ◽  
Lewy Bodies ◽  
Pure Autonomic Failure

Abstract P381: Understanding the Symptoms of Neurogenic Orthostatic Hypotension: Results From a Survey of Patients and Caregivers

Hypertension ◽  
2017 ◽  
Vol 70 (suppl_1) ◽  
Author(s):  
Lawrence A Hewitt ◽  
Charles H Adler ◽  
Daniel O Claassen ◽  
Christopher H Gibbons ◽  
Satish R Raj
Keyword(s):  
Multiple System Atrophy ◽  
Parkinson Disease ◽  
Orthostatic Hypotension ◽  
Autonomic Failure ◽  
Alpha Synuclein ◽  
Pure Autonomic Failure ◽  
Motor Symptoms ◽  
Neurogenic Orthostatic Hypotension ◽  
The Past ◽  
Increased Risk

Objective: To understand the burden and impact of symptoms of neurogenic orthostatic hypotension (nOH) on patients Background: nOH and its symptoms such as dizziness/lightheadedness are common in patients with Parkinson disease (PD) and other forms of autonomic dysfunction. Methods: An author-designed, US-based survey was conducted by Harris Poll. Eligible participants were aged ≥18 years with PD, multiple system atrophy (MSA), or pure autonomic failure and ≥1 of the following: orthostatic hypotension, nOH, low BP, OH/nOH symptoms, or were caregivers of eligible patients. Results: Most patients (90%) had a diagnosis of PD, and most caregivers (88%) cared for a patient with PD (Table 1) . Patients (34%) and caregivers (49%) reported experiencing nOH symptoms before PD or MSA motor symptoms and >40% indicated that nOH symptoms were more troublesome than motor manifestations of PD or MSA. Less than a quarter (22%) of respondents suggested symptoms were most severe in the morning; more (30%) reported a consistent severity throughout the day. Patients (40%) and caregivers (63%) reported trouble managing symptoms during the day. In the past 12 months, a fall due to nOH symptoms was reported by 57% of patients and 80% of caregivers. Conclusions: These findings suggest that nOH symptoms may predate the onset of motor symptoms in neurodegenerative conditions linked to alpha-synuclein pathology. Many respondents report nOH symptoms are the same severity through the day. Patients with nOH may have trouble managing symptoms and note an increased risk for falls.

The distribution of Lewy bodies in pure autonomic failure: autopsy findings and review of the literature

1997 ◽  
Vol 94 (2) ◽  
pp. 192-196 ◽  
Author(s):  
K. Hague ◽  
P. Lento ◽  
S. Morgello ◽  
S. Caro ◽  
H. Kaufmann
Keyword(s):  
Autonomic Failure ◽  
Lewy Bodies ◽  
Pure Autonomic Failure ◽  
Review Of The Literature ◽  
Autopsy Findings

Efficiency of droxydopa in pure autonomic failure

2010 ◽  
Vol 41 (01) ◽  
Author(s):  
M Knosalla ◽  
CA Haensch ◽  
J Wehe ◽  
H Lerch ◽  
J Weis ◽  
...  
Keyword(s):  
Autonomic Failure ◽  
Pure Autonomic Failure

scholarly journals Comparing Patient Characteristics, Clinical Outcomes, and Biomarkers of Severe Asthma Patients in Taiwan

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 764
Author(s):  
Shih-Lung Cheng ◽  
Kuo-Chin Chiu ◽  
Hsin-Kuo Ko ◽  
Diahn-Warng Perng ◽  
Hao-Chien Wang ◽  
...  
Keyword(s):  
Severe Asthma ◽  
Clinical Characteristics ◽  
Linear Models ◽  
Patient Characteristics ◽  
Emergency Department Visits ◽  
Receiver Operating Characteristic Curves ◽  
Increased Risk ◽  
Significant Difference ◽  
Asthma Patients ◽  
Patients At Risk

Purpose: To understand the association between biomarkers and exacerbations of severe asthma in adult patients in Taiwan. Materials and Methods: Demographic, clinical characteristics and biomarkers were retrospectively collected from the medical charts of severe asthma patients in six hospitals in Taiwan. Exacerbations were defined as those requiring asthma-specific emergency department visits/hospitalizations, or systemic steroids. Enrolled patients were divided into: (1) those with no exacerbations (non-exacerbators) and (2) those with one or more exacerbations (exacerbators). Receiver operating characteristic curves were used to determine the optimal cut-off value for biomarkers. Generalized linear models evaluated the association between exacerbation and biomarkers. Results: 132 patients were enrolled in the study with 80 non-exacerbators and 52 exacerbators. There was no significant difference in demographic and clinical characteristics between the two groups. Exacerbators had significantly higher eosinophils (EOS) counts (367.8 ± 357.18 vs. 210.05 ± 175.24, p = 0.0043) compared to non-exacerbators. The optimal cut-off values were 292 for EOS counts and 19 for the Fractional exhaled Nitric Oxide (FeNO) measure. Patients with an EOS count ≥ 300 (RR = 1.88; 95% CI, 1.26–2.81; p = 0.002) or FeNO measure ≥ 20 (RR = 2.10; 95% CI, 1.05–4.18; p = 0.0356) had a significantly higher risk of exacerbation. Moreover, patients with both an EOS count ≥ 300 and FeNO measure ≥ 20 had a significantly higher risk of exacerbation than those with lower EOS count or lower FeNO measure (RR = 2.16; 95% CI, 1.47–3.18; p = < 0.0001). Conclusions: Higher EOS counts and FeNO measures were associated with increased risk of exacerbation. These biomarkers may help physicians identify patients at risk of exacerbations and personalize treatment for asthma patients.

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