Isolated delusion in idiopathic Parkinson’s disease: particularities in a subgroup of patients
Objective: Characterize the subgroup of Parkinson’s Disease (PD) patients with isolated delusions. Background: Psychotic features in patients with PD, especially delusions, usually are thought to…Functional stiff person like disorders: clinical features and red flags
Objective: To delineate the characteristics and distinguishing features of functional stiff person-like disorders (fSPLD). Background: Stiff person spectrum disorders (SPSD) are a group of rare…Preoperative quantitative evaluation of psychological determinants in abnormal head postures
Objective: Improving the diagnostic capability by discriminating the psychogenic part of the disorder using a dedicated “home-made” questionnaire completed with the Minnesota Multiphasic Personality Inventory (MMPI).…Identification of aberrant circulating miRNAs in Parkinson’s disease plasma samples
Objective: To detect the aberrant expression of circulating miRNAs and explore thepotential early diagnostic biomarkers in patients with Parkinson’s disease (PD). Background: In the past…GBA p.Glu326Lys substitution increases the risk to develop Parkinson’s disease; is it enough to affect disease phenotype?
Objective: To evaluate the frequency of GBA p.Glu326Lys (E326K) carriers in a large cohort of Parkinson's disease patients of Ashkenazi Jewish origin (AJPD) and to…Targeted deep sequencing of brain DNA for detection of somatic point mutations in synucleinopathies
Objective: To detect relevant somatic "point mutations" (single nucleotide variants- SNVs) in brain-derived DNA in synucleinopathies. Background: There is increasing recognition that neurons may harbour…Effect of polygenic load on striatal dopaminergic deterioration in Parkinson’s disease
Objective: To investigate the longitudinal association between PD-associated polygenic load and the striatal dopaminergic activity using 123I-N-3-fluoropropyl-2-beta-carboxymethoxy-3beta-(4-iodophenyl) nortropane (123I-FP-CIT) single photon emission computed tomography (SPECT).…Assessing the response to Levodopa/carbidopa intestinal gel infusion based on genetic status
Objective: The aim of this study was to characterize patients with Parkinson's disease (PD) on Levodopa/carbidopa intestinal gel infusion (LCIG) treatment based on their genetic…Paroxysmal asymmetric dystonic arm posturing – a less recognised but characteristic manifestation of ATP1A3-related disease
Objective: To highlight a less recognised but characteristic manifestation of ATP1A3-related disease. Background: ATP1A3 mutations cause a wide clinical spectrum, and are one of the…Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
Objective: We aimed to characterize cognitive functions of patients with pure and complicated HSP, and to determine the frequency of abnormal cognitive performances in the…
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