The Clinical and Genetic Characteristics of HSP Patients by WES Sequencing Combined with MLPA
Objective: We aim to clarify the phenotype and gene spectrum of hereditary spastic paraplegia (HSP) and improve the molecular diagnosis. Background: Next-generation sequencing-based molecular assessment…Clinical and Genetic Characteristics in a Chinese Cohort of Complex Spastic Paraplegia Type 4
Objective: To delineate the genotypic and phenotypic spectrum of patients with complex SPG4 phenotype and further explore genotype-phenotype correlations. Background: Spastic paraplegia type 4 (SPG4),…Hyposmia is Associated with Positive CSF α-Synuclein Seeding in Normal Pressure Hydrocephalus
Objective: To detect α-synuclein (αSyn) pathology and associated clinical characteristics in patients with idiopathic normal pressure hydrocephalus (iNPH) through cerebrospinal fluid (CSF) αSyn seed amplification…Multiple System Atrophy in a Patient with Normal Pressure Hydrocephalus
Objective: To review a case of a patient diagnosed with both NPH and MSA. Background: Multiple system atrophy (MSA) is a progressive neurodegenerative disease that…Hydrocephalic Progressive Supranuclear Palsy: An Underrecognized Entity
Objective: We describe a case of NPH-like presentation of PSP, review literature surrounding this entity, and discuss key diagnostic considerations and implications. Background: Despite advances…Influence of Fatigue in Parkinson’s Disease on Variability of Gait Measures
Objective: This project aims to explore the experience of fatigue in Parkinson’s patients, and its influence on gait variability in stride frequency and ground contact…Consistent downregulation of rarely reported antioxidant genes viz., GGL, TR, TrX, HO-1, GR, GS, in the mid brain regions among mice and Drosophila exposed to Parkinsonian toxins: Scope as early diagnostic markers
Objective: The study aimed at deciphering status of redox genes in mid-brain regions of 2 major in vivo study models: mice/Drosophila melanogaster exposed to Parkinson…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…The role of structural changes in the retina and the vertical vestibulo-ocular reflex abnormality in gait disorders in Parkinson`s disease
Objective: Our goal was to investigate retinal structural changes as well as changes in visual cortex in PD patients with suppression deficiency of VOR and…
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