CSF tau reflects long-term outcome of patients with idiopathic normal pressure hydrocephalus: a longitudinal retrospective study.
Objective: To predict long-term clinical outcome of iNPH patients through a panel of neurodegeneration-related CSF biomarkers. Background: Idiopathic normal pressure hydrocephalus (iNPH) is a neurodegenerative…Overlapping Pathogenetic Findings in Developmental Coordination Disorder (DCD), Ataxia, Dystonia and Myoclonus: is DCD part of a Movement Disorder Spectrum?
Objective: To explore the underlying pathogenetic mechanisms of Developmental Coordination Disorder (DCD) and compare these with findings in ataxia, dystonia and myoclonus. Background: DCD is…Nucleus basalis of Meynert and total gray matter atrophy are related to cognitive and gait decline in Parkinson’s disease
Objective: To assess the associations between the nucleus basalis of Meynert (NBM) and total grey matter atrophy with cognitive phenotype and gait measures in a…All that is gold does not glitter: SPG11 mimicking Westphal variant of Huntington’s disease
Objective: Our objective was to bring light into infrequent causes of gait disorders in children mimicking well-known diseases, specifically with relevant family background. Background: Hereditary…Clinical and genetic characterization of two Portuguese families with spinocerebellar ataxia 48
Objective: Genetic and phenotypic characterization of six patients from two families, with pathogenic variants on the STUB1 gene. Background: Biallelic pathogenic variants on the STUB1…Progressive Gait Disturbance presumed to be caused by idiopathic peripheral neuropathy: A case of Normal Pressure hydrocephalus.
Objective: Discuss the importance of gait phenomenology in identifying Normal Pressure Hydrocephalus. Background: Normal pressure hydrocephalus (iNPH) can present as a ‘magnetic gait’ but this…Non-motor network decoupling accompanies conversion to freezing of gait in Parkinson’s disease
Objective: To investigate the resting state connectivity in cortico-striatal-thalamo-cortical networks pre-conversion and pre- to post-conversion to Freezing of Gait in Parkinson’s disease. Background: Freezing of…Improving fall prediction in Parkinson’s disease: A machine-learning-based approach
Objective: To explore the prediction of falling in PD using a machine-learning-based approach. Background: The strongest predictor of falling in Parkinson’s disease (PD) is the…Gait and turning alterations in idiopathic REM sleep behavioral disorder and early Parkinson’s disease: a cross-sectional study with mobile health technology
Objective: The aim of the study was investigate the differences in performances of gait and turning under supervised conditions in healthy controls (HC), idiopathic REM…Reverse phenotyping of a 3.3Mb loss of 8p11.21p11.1, including SLC20A2, lead to a diagnosis of primary familial brain calcification
Objective: To describe the clinical picture of a patient with a large deletion in band 8p11.21p11.1 including SLC20A2 and present a review of patients with a…