Search results for "PARKINSON"
showing 10 items of 451 documents
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
2022
Background Complex parkinsonism is the commonest phenotype in late-onset PLA2G6-associated neurodegeneration. Objectives The aim of this study was to deeply characterize phenogenotypically PLA2G6-related parkinsonism in the largest cohort ever reported. Methods We report 14 new cases of PLA2G6-related parkinsonism and perform a systematic literature review. Results PLA2G6-related parkinsonism shows a fairly distinct phenotype based on 86 cases from 68 pedigrees. Young onset (median age, 23.0 years) with parkinsonism/dystonia, gait/balance, and/or psychiatric/cognitive symptoms were common presenting features. Dystonia occurred in 69.4%, pyramidal signs in 77.2%, myoclonus in 65.2%, and cere…
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB
2020
Abstract DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients with progressive supranuclear palsy. Our genetic screening of DCTN1 in 79 patients with progressive supranuclear palsy, 100 patients with multiple system atrophy, and 28 patients with dementia with Lewy bodies from Italy revealed only synonymous and intronic variants, suggesting that DCTN1 mutations do not have a key role in the development of atypical parkinsonism in the Italian population.
Nasal chemosensory tests: biomarker between dementia with Lewy bodies and Parkinson disease dementia.
2020
BACKGROUND: Dementia with Lewy bodies (DLB) and Parkinson disease dementia (PDD) are progressive and disabling neurodegenerative disorders, which are often misdiagnosed due to theirs overlapping clinical and paraclinical features. Nevertheless, their adequate management requires an accurate differential diagnosis. The main aim of this study was to investigate the usefulness of olfactory and trigeminal nasal testing for the differential diagnosis between DLB and PDD. METHODS: Odor thresholds to three odorants differentially activating the olfactory and trigeminal systems were assessed in patients with DLB, PDD and healthy controls (n = 20 per group). RESULTS: Odor thresholds were significant…
Analysis of the LRP10 gene in patients with Parkinson's disease and dementia with Lewy bodies from Southern Italy
2020
Recently, the LRP10 gene has been associated with Parkinson's disease (PD), Parkinson's disease with dementia (PDD), and dementia with Lewy bodies (DLB). The aim of the present study was to evaluate the presence of mutations of the LRP10 gene in patients with PD or DLB from Southern Italy. Sequencing analysis revealed only 2 missense and 3 synonymous variants in patients and control subjects and a rare variant p.L622F in a PD case. These results suggest that LRP10 mutations are not a frequent cause of PD and DLB in Southern Italy.
Presence phenomena in parkinsonian disorders: Phenomenology and neuropsychological correlates.
2020
Introduction The feeling of a presence that occurs in the absence of objectively identifiable stimuli is common in parkinsonian disorders. Although previously considered benign and insignificant, recent evidence suggests that presence phenomena may act as the gateway to more severe hallucinations and dementia. Despite this, we still know relatively little about these phenomena. Objective To examine parkinsonian disorder patients' subjective experience of presence phenomena, and retrospectively analyse their cognitive correlates, in order to elucidate the emergence of information processing deficits in parkinsonian disorders. Methods/design 25 patients who endorsed presence phenomena were as…
Recognition by familiarity is preserved in Parkinson's without dementia and Lewy-Body disease.
2010
Objective The retrieval deficit hypothesis states that the lack of deficit in recognition often observed in patients with Parkinson's disease is because of the low retrieval requirements of the task, given that these patients have retrieval and not encoding deficits. To test this hypothesis we investigated recognition memory by familiarity in Parkinson's patients and in patients with Lewy Bodies disease and Parkinson with dementia. Method We analyzed to what extent the experimental groups were able to recognize by familiarity in a typical yes/no recognition memory task. The experimental groups were patients with early nondemented Parkinson's disease, advanced nondemented Parkinson's disease…
Measuring network disruption in neurodegenerative diseases: New approaches using signal analysis
2019
Advanced neuroimaging has increased understanding of the pathogenesis and spread of disease, and offered new therapeutic targets. MRI and positron emission tomography have shown that neurodegenerative diseases including Alzheimer’s disease (AD), Lewy body dementia (LBD), Parkinson’s disease (PD), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) are associated with changes in brain networks. However, the underlying neurophysiological pathways driving pathological processes are poorly defined. The gap between what imaging can discern and underlying pathophysiology can now be addressed by advanced techniques that explore the cortical neural synchro…
Acute and reversible Pisa syndrome as unusual presentation of portosystemic encephalopathy
2020
Abstract We present the first case of acute and reversible Pisa Syndrome, as a clinical manifestation of a portosystemic encephalopathy bout occurring in a patient affected with cirrhosis and clinical-radiological signs of acquired hepatocerebral degeneration, without exposure to psychotropic medications. A 62 year-old man suffering from cirrhosis was admitted to our hospital for sudden onset of mild confusion and postural change. He was observed walking and standing with a tilt toward the right during the last two hours. On neurological examination, he showed bilateral asterixis and extrapyramidal signs. Clinical diagnosis of Pisa Syndrome was made in a setting of raised serum ammonia. A b…