Dosimetry-based high-activity therapy with I-metaiodobenzylguanidine (I-mIBG) and topotecan for the treatment of high-risk refractory neuroblastoma.

Purpose: Patients with high-risk neuroblastoma have an increased risk of recurrence and relapse of disease and a very poor prognosis. I-metaiodobenzylguanidine (I-mIBG) in combination with topotecan as a radiosensitizer can be an effective and relatively well-tolerated agent for the treatment of refractory neuroblastoma. The aim of this retrospective study was to evaluate response and outcome of combined therapy with I-mIBG and topotecan.

Myocardial MIBG scintigraphy in genetic Parkinson's disease as a model for Lewy body disorders.

Purpose: To identify myocardial sympathetic denervation patterns suggestive of Lewy body (LB) pathology in patients with genetic and idiopathic parkinsonisms by I-metaiodobenzylguanidine (MIBG) scintigraphy.

Methods: We retrospectively analysed myocardial MIBG images acquired with a dual-head gamma camera and low-energy high-resolution collimator (LEHR) in 194 patients with suspected synucleinopathy or atypical parkinsonism, including 34 with genetic Parkinson's disease (PD; 4 PARK1, 8 PARK2 and 22 PARK8), 85 with idiopathic PD (iPD), 6 with idiopathic REM sleep behaviour disorder (iRBD), 17 with dementia with LB (DLB), 40 with multiple system atrophy (MSA) and 12 with progressive supranuclear palsy (PSP), and in 45 healthy controls. We calculated heart-to-mediastinum MIBG uptake ratios (HMR) at 15 min and 4 h (HMR4H) for the LEHR and standardized medium-energy collimators, to obtain classification accuracies and optimal cut-off values for HMR using supervised classification and ROC analyses.

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.

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.

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.

The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.

Familial parkinsonism and dementia with cortical and subcortical Lewy bodies is uncommon, and no genetic defect has been reported in the previously described sibships. We present a Spanish family with autosomal dominant parkinsonism, dementia, and visual hallucinations of variable severity. The postmortem examination showed atrophy of the substantia nigra, lack of Alzheimer pathology, and numerous Lewy bodies which were immunoreactive to alpha-synuclein and ubiquitin in cortical and subcortical areas.