Genetics of African Americans – Louisiana, Parkinson’s Disease – (GoAAL-PD)
Objective: Study a cohort of African American patients with PD to understand the genetic underpinnings, phenotypes, barriers to care, and engagement preferences unique to this…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…Dopa-responsive ataxia with compound heterozygous variants in MRE11
Objective: To evaluate the role for levodopa in patients with ataxia telangiectasia like disorder (ATLD) who have a compound heterozygous mutation in MRE11. Background: Early-onset…PMM2 mutation
Objective: describe glycosylation type 1A PMM2 mutation presented as motor development regression and cognitive impairment proving to be a disease that should’ve been detected precociously.…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…
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