Motor and Nonmotor clinical phenotype in LRRK2 Parkinson’s disease patients: a Case-control study
Objective: Our study aimed to characterize and compare the clinical phenotype of LRRK2-PD patients with PD patients with no identified mutations. Background: The clinical phenotype…Kufor-Rakeb Syndrome due to a Novel ATP13A2 Mutation in two Chinese brothers
Objective: To describe Kufor-Rakeb Syndrome (KRS) due to a novel ATP13A2 1459 C>T mutation in two Chinese siblings. Background: Kufor-Rakeb Syndrome is a rare autosomal…Early-Onset Parkinson Disease with Hypocalcemia: Adult Presentation of 22q11.2 Deletion Syndrome
Objective: Report a case of early-onset Parkinson Disease with hypocalcemia and mild dysmorphic features leading to diagnosis of 22q11.2 deletion syndrome Background: The 22q11.2 Deletion Syndrome is…Are there genotype-phenotype correlations in Perrys syndrome?
Objective: To examine genotype-phenotype correlations in a cohort of three patients with Perrys syndrome. Background: Perrys syndrome is a rare cause of familial parkinsonism. Since the…Pure ATXN10 repeat expansion causes Parkinson’s disease
Objective: Clinical and genetic characterization of a multigenerational family with spinocerebellar ataxia type 10 (SCA10) and parkinsonism. Background: Pentanucleotide repeat expansions of ATTCT in intron…First Reported Case of Parkinsonism in a Patient with Argininosuccinate Lyase Deficiency
Objective: The purpose of this case report is to detail the phenotype of parkinsonism encountered in a patient with Argininosuccinate Lyase Deficiency (ASLD) that has…Early-Onset Parkinsonism and Short Stature in a Puerto Rican Kindred. Possible DJ1 deletion?
Objective: We aim to identify and describe the clinical phenotype associated with a Puerto Rican family with early-onset PD and short stature. Background: As few…Behavioral and psychological symptoms in Parkinson’s disease with SWEDDs
Objective: To assess behavioral and psychological symptoms in patients of Parkinson's disease with SWEDDs(PD-SWEDDs.. Background: Behavioral and psychological symptoms are often seen in patients with…Capgras syndrome in advanced Parkinson disease
Objective: The aims of this study were to investigate the frequency of Capgras syndrome in Parkinson's disease patients who have undergone Deep Brain Stimulation (DBS)…Dopamine agonist therapy mediates relationship between psychomotor inhibition and behavioral impulsivity in Parkinson’s disease.
Objective: Evaluate relationship between psychomotor inhibition and behavioral impulsivity in Parkinson’s disease (PD). Background: Impulse control disorders can be challenging iatrogenic effects of dopamine agonist…