Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency.

Background: Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, early-onset, dyskinetic encephalopathy mostly reflecting a defective synthesis of brain dopamine and serotonin. Intracerebral gene delivery (GD) provided a significant improvement among AADCD patients (mean age, ≤6 years).

Objective: We describe the clinical, biological, and imaging evolution of two AADCD patients ages >10 years after GD.

Diagnostic value of quantitative assessment of cardiac F-fluoro-2-deoxyglucose uptake in suspected cardiac sarcoidosis.

Objective: The identification of cardiac sarcoidosis is challenging as there is no gold standard consensually admitted for its diagnosis. The aim of this study was to evaluate the diagnostic value of the assessment of cardiac dynamic F-fluoro-2-deoxyglucose positron emission tomography (F-FDG PET/CT) and net influx constant (Ki) in patients suspected of cardiac sarcoidosis.

Methods: Data obtained from 30 biopsy-proven sarcoidosis patients suspected of cardiac sarcoidosis who underwent a 50-min list-mode cardiac dynamic F-FDG PET/CT after a 24 h high-fat and low-carbohydrate diet were analyzed.

Influence of education on cognitive performance and dopamine transporter binding in dementia with Lewy bodies.

Objectives: Dementia with Lewy bodies (DLB) and Alzheimer's disease (AD) are the two most common forms of dementia. These two diseases share some clinical and pathological similarities, yet the loss of dopaminergic neurons confirmed by 123-I-Ioflupane Single Photon Emission Computed Tomography (SPECT) is a suggestive feature of DLB. Current evidence suggests that higher education has a protective effect on the risk of developing clinical AD.

Accuracy and cutoff values of delayed heart to mediastinum ratio with (123)I-metaiodobenzylguanidine cardiac scintigraphy for Lewy body disease diagnoses.

Background: Different studies have found diminished cardiac metaiodobenzylguanidine (MIBG) uptake in Lewy body (LB) related conditions (Parkinson's disease (PD) and Lewy body dementia (LBD)). However, delayed heart/mediastinum (d-H/M) ratio diagnostic cutoff points are debated in parkinsonian syndromes.

Methods: We performed a monocentric retrospective analysis on 62 consecutive parkinsonian patients who underwent an (123)I-MIBG scintigraphy, brain imaging and dopaminergic imaging using (123)I-Ioflupane single photon emission computed tomography (SPECT) from 2009 to 2013.

Potential diagnostic value of regional myocardial adrenergic imaging using (123)I-MIBG SPECT to identify patients with Lewy body diseases.

Purpose: The aim of this study was to determine the potential diagnostic value of regional myocardial adrenergic (123)I-metaiodobenzylguanidine (MIBG) single photon emission computed tomography (SPECT) imaging to identify patients with Lewy body diseases (LBD+).

Methods: Sixty-four consecutive patients who underwent cardiac (123)I-MIBG SPECT to differentiate LBD+, including Parkinson's disease (PD) and dementia with Lewy bodies (DLB), from patients without LBD (LBD-) were retrospectively reviewed. A neurologist expert in memory disorders determined the final clinical diagnosis by using international clinical diagnostic criteria.