Balance assessment and effect of virtual reality in Hereditary Spastic Paraplegia
Objective: This study aims to investigate the balance and benefits of Vestibular Rehabilitation (VR) with virtual reality (VRi) in individuals with HSP Background: The HSP…Perry Syndrome due to a DCTN1 novel variant
Objective: To report the clinical features of a patient with Perry syndrome (PS) due to a heterozygous novel pathogenic variant in the DCTN1 gene. Background:…Integrating Parkinson’s Plus Cohorts into the Global Parkinson’s Genetics Program
Objective: To integrate Parkinson’s Plus Cohorts into the Global Parkinson’s Genetics Program (GP2) and design a dictionary of data to be collected. Background: GP2 is…Unique Presentation of SPG 15 as Juvenile Levodopa Responsive Parkinsonism: A Case Report
Objective: To present an atypical case of Hereditary Spastic Paraplegia (HSP) subtype SPG 15 manifesting as juvenile levodopa-responsive parkinsonism and the subsequent management decision for…Studying digenic Parkinson’s disease in a stem cell model carrying mutant p.N409S in the GBA1 gene and the homozygous deletion of exon 3 PARK2
Objective: We aim to study the combined effect of the GBA1 p.N409S mutation and a complete loss of Parkin based on a patient-based stem cell…Progressive Cerebellar Ataxia as the Predominant Symptomatology of SGP-7 Compound Heterozygote Pathogenic Variants related HSP-7
Objective: Analyze a clinical case detailing the presentation of a patient primarily exhibiting gradual onset balance disturbances, subsequently diagnosed with HSP-7, elucidating key diagnostic challenges…A novel G413S mutation in the CSF1R gene causes Hereditary Diffuse Leucoencephalopathy with axonal Spheroids; clinically overlapping features of Parkinsonism
Objective: The current study was designed to investigate the genetic cause of atypical Parkinsonism is a multigenerational Pakistani family Background: Hereditary Diffuse Leucoencephalopathy with axonal…New Pathological Findings in an International Cohort of Hereditary Spastic Paraplegia 4 Patients
Objective: To determine the clinical and genetic differences in hereditary spastic paraplegia SPG4 patients across various countries. Background: SPG4/SPAST gene account for approximately 40% of…Validation of Inertial Measurement Units and an application compared with the reference system to assess the gait in hereditary spastic paraplegia
Objective: To assess the reliability of spatiotemporal parameter measurements in HSP patients obtained from an inertial system and an application compared with the conventional motion…Autosomal Recessive Spastic Ataxia Secondary a Novel SPG7 Gene Pathogenic Variant: a Case Report
Objective: The primary aim of this investigation is to describe a newly identified pathogenic variant within the SPG7 gene observed in a clinical presentation of…
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