Bidirectional Relationship Between Olfaction and Parkinson’s Disease
Objective: To establish a causal direction and genetic relationship between olfactory function and Parkinson’s disease (PD). Background: Degradation in olfactory function or hyposmia is a…Parkinson’s Disease Risk Genotypes at the GPNMB Locus Associate with Extent of Post-mortem Lewy Pathology
Objective: To determine whether Parkinson’s disease (PD) risk genotypes at the GPNMB locus associate with distribution of Lewy pathology in brain samples from a spectrum…Contribution of Genetics to Onset of PD with Leg Tremor
Objective: To determine frequency and determinants of resting tremor in the leg as first motor symptom in Parkinson Disease (PD), especially as related to age…Latent Genetic Architecture of Parkinson’s Disease Risk factors and Comorbidities
Objective: To comprehensively investigate the genetic relationship between Parkinson’s disease (PD), its risk factors, and comorbidities by constructing a factor model of the shared genetic…Clinical And Genetic Analysis Of Patients With Parkinson’s Disease -LRRK2 Variants From A Referral Centre In India
Objective: Our study aims to describe the clinical features and genetic profile of patients of PD carrying LRRK2 variants and draw correlation with genetic variants.…Sleep Characteristics in Idiopathic and Genetic Parkinson’s Disease
Objective: To investigate sleep features among individuals with genetic subgroups of PD, including LRRK2 G2019S-PD, GBA-PD, and iPD (idiopathic PD with no known genetic variant). Background:…Expanding the phenotypic spectrum of movement disorders in 22q11.2 deletion syndrome
Objective: To formally characterize the evolving spectrum of movement disorders associated with chromosome 22q11.2 deletion syndrome Background: Emerging evidence suggests that a wide range of…Parkinsonism in combined Fragile X and XYY Syndromes: A Case Report
Objective: We describe an unusual case of parkinsonism in a 45-year-old male with Fragile X syndrome and XYY syndrome. Background: Fragile X syndrome (FXS) is…A Novel SLC9A1 Mutation Associated with Cerebellar Ataxia and Sensorineural Hearing Loss
Objective: To report a novel genetic mutation in the SLC9A1 gene presenting with childhood onset ataxia and sensorineural hearing loss. Background: Lichtenstein-Knorr syndrome is a…Complex Movement Disorders in Late Onset TPP1 Gene Mutation (Atypical Neuronal Ceroid Lipofuscinosis Type 2)
Objective: To describe an atypical late onset phenotypical presentation of a homozygous TPP1 mutation with complex movement disorders. Background: TPP1 mutations, lead to deficiency of…
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