Multiple system atrophy: Clinical, evolutive and histopathological characteristics of a series of cases.

Background And Objective: Multiple system atrophy is a rare and fatal neurodegenerative disorder, characterized by autonomic dysfunction in association with either parkinsonism or cerebellar signs. The pathologic hallmark is the presence of alpha-synuclein aggregates in oligodendrocytes, forming glial cytoplasmic inclusions. Clinically, it may be difficult to distinguish form other parkinsonisms or ataxias, particularly in the early stages of the disease.

Seronegative and seropositive autoimmune autonomic ganglionopathy (AAG): Same clinical picture, same response to immunotherapy.

Two patients with a syndrome of pandisautonomia with clinical criteria of AAG are provided. Both patients present a similar clinical picture and response to immunosuppressive treatment. One of them has positive antibodies against the ganglionic nicotinic acetylcholine (gAChr) and the other does not.

Long-term impact on quality of life of subthalamic nucleus stimulation in Parkinson's disease.

Long-term impact of bilateral subthalamic nucleus deep brain stimulation (STN-DBS) on health-related quality of life (HRQOL) and associated factors in patients with Parkinson's disease (PD) are not clear. In this prospective study, we included 69 PD patients (64 % men, mean age 61.3 ± 7.

Autonomic involvement in Parkinsonian carriers of PARK2 gene mutations.

Background And Objectives: The objective of this study was to assess the presence of autonomic nervous system dysfunction in PARK2 mutation carriers.

Patients And Methods: We performed a cross-sectional analysis of 8 PARK2 carriers (age: 60.1 ± 12.

Cognitive and behavioral symptoms in Parkinson's disease patients with the G2019S and R1441G mutations of the LRRK2 gene.

Objective: To compare the cognitive and psychiatric status of patients with Parkinson's disease related to the G2019S and the R1441G mutations of the LRRK2 gene (LRRK2-PD) and idiopathic Parkinson's disease (iPD) patients.

Methods: We examined cognition and psychiatric symptoms in 27 patients with LRRK2-PD (12 G2019S and 15 R1441G) and 27 iPD patients.

Results: The groups were similar in age, education, disease duration, levodopa equivalent daily dose, and Unified Parkinson's Disease Rating Scale (UPDRS) II-IV; however, the LRRK2-PD showed less impairment on UPDRS-I (2.

Orthostatic hypotension in Parkinson disease: how much you fall or how low you go?

Orthostatic hypotension (OH) is frequent in patients with Parkinson's disease (PD) and can occur with or without symptoms. Pharmacological treatments are effective, but often exacerbate supine hypertension. Guidelines exist for the diagnosis, but not for the treatment of OH.

Cardiocirculatory manifestations in Parkinson's disease patients without orthostatic hypotension.

The objective of this study was to characterize cardiac sympathetic denervation in Parkinson's disease (PD) patients without neurogenic orthostatic hypotension (NOH), both in terms of hemodynamics and in its relation with vascular denervation. We studied 20 PD patients without NOH. We analyzed the heart rate and blood pressure variability during various physical maneuvers.

Motor and non-motor symptoms of Parkinson's disease and their impact on quality of life and on different clinical subgroups.

Introduction: The aim of the present study is to analyse the influence that motor and non-motor symptoms have on the quality of life (QoL) of patients with Parkinson's disease (PD), and to study the relationship between the two types of symptoms.

Material And Methods: This cross-sectional study included 103 patients with PD (55 men and 48 women). Quality of life was measured on the PDQ-39 scale.

Autonomic dysfunction in parkinsonian LRRK2 mutation carriers.

Introduction: The aim of this study was to compare autonomic function in PD symptomatic carriers of the LRRK2 mutations and idiopathic Parkinson's disease (iPD) patients.

Material And Methods: We studied 25 PD patients: 12 with the LRRK2 mutation (6 G2019S and 6 R1441G), and 13 with iPD. All patients underwent blood pressure and heart rate monitoring during head up tilt, Valsalva maneuver and deep breathing, along with recording of sympathetic skin response (SSR) and cardiac MIBG scintigraphy.

Nocturnal hypertension and dysautonomia in patients with Parkinson's disease: are they related?

Orthostatic hypotension and supine hypertension frequently coexist in Parkinson's disease (PD) patients, leading to visceral damage and increased mortality rates. The aim of this paper is to analyze the frequency and association of both conditions in a sample of outpatients with PD. A total of 111 patients, diagnosed with PD, were studied.

The applause sign and neuropsychological profile in progressive supranuclear palsy and Parkinson's disease.

Background: The applause sign has been associated with various neurodegenerative diseases. We investigate its validity in the differential diagnosis of progressive supranuclear palsy and Parkinson's disease, and its relationship with neuropsychological tests.

Patients And Methods: 23 patients with progressive supranuclear palsy and 106 patients with Parkinson's disease were included and administered the following scales: progressive supranuclear palsy rating scale, unified Parkinson's disease rating scale (UPDRS), mini-mental state examination (MMSE), frontal assessment battery (FAB), neuropsychiatric inventory and three-clap test.

Cardiac sympathetic denervation in symptomatic and asymptomatic carriers of the E46K mutation in the α synuclein gene.

Objective: The aim of this study was to analyze autonomic function and cardiac sympathetic innervation in symptomatic and asymptomatic carriers of the E46K alpha-synuclein gene (SNCA) mutation.

Patients And Methods: Autonomic function tests were performed in six patients, four of whom were symptomatic carriers (ages: 46, 59, 52 and 28-years) and two who were asymptomatic carriers (ages: 52 and 29 years). Autopsy studies were performed on an additional two symptomatic carriers not eligible for autonomic testing.

SCOPA-AUT scale in different parkinsonisms and its correlation with (123) I-MIBG cardiac scintigraphy.

Introduction: Our objective was to assess the usefulness of the Scales for Outcomes in Parkinson's disease - Autonomic (SCOPA-AUT) in the differential diagnosis of Parkinsonisms and clarify its relation with 123-I-MIBG cardiac scintigraphy.

Methods: A total of 112 patients with Parkinson's disease (PD), 12 with multiple system atrophy parkinsonian variant (MSA-P) and 20 with progressive supranuclear palsy (PSP) participated in the study. The following variables were collected: age, sex, age at onset, length of illness, type and dose of anti-Parkinson medication, and score on the Unified Parkinson's Disease Rating Scale.

Tako-tsubo cardiomyopathy in a patient with bilateral lesions in the dorsal medulla.

Tako-tsubo-like cardiomyopathy (TTC) is much more common than originally thought. The exact pathophysiology of TTC is unclear. The most accepted theory proposes myocardial stunning of neurogenic origin, supported by the frequent antecedent of emotional or physical stress, suggesting a catecholamine-mediated mechanism.

Impact of psychiatric symptoms and sleep disorders on the quality of life of patients with Parkinson's disease.

The objective of this study is to assess how the non-motor symptoms of Parkinson's disease (PD), such as depression, cognitive deterioration, neuropsychiatric and sleep disorders, affect the quality of life, and to compare them with the motor symptoms in order to determine their real impact. A cross-sectional study was designed including 99 patients (mean age 68.5 ± 9.

Factors influencing the symmetry of Parkinson's disease symptoms.

Introduction: The presence of asymmetry in symptoms and clinical signs favours the diagnosis of Parkinson's disease (PD). The aim of this study is to analyse this symptom asymmetry as a function of different variables and compare it with other parkinsonisms.

Materials And Methods: 201 Patients with PD were studied.