Apathy : Clinical Correlates in Parkinson’s disease Psychosis
Objective: To determine the frequency and clinical correlates of apathy in Parkinson’s disease (PD) psychosis. Background: The underlying pathology of apathy in PD psychosis, itself…What do medical students think about functional movement disorders?
Objective: Determine medical students' knowledge and attitudes toward Functional Neurological Disorders (FND). Background: Functional movement disorders are part of the spectrum of FND, a common…Tremor and parkinsonism in Chromosomopathies – a systematic review
Objective: To review the co-occurrence of parkinsonism and tremor syndromes in patients with chromosomic disorders. Background: The landscape of genetic forms of Parkinson’s diseases (PD)…Assessment of RADIAL, a tool for the diagnostic of autosomal recessive cerebellar ataxia: a prospective study
Objective: Our objective was to validate “RADIAL” ( Recessive Ataxias ranking differential DIagnosis Algorithm) for the diagnosis of Autosomal Recessive Cerebellar Ataxia (ARCA). Background: ARCA…The potential modifier effect of C9orf72 DNA methylation in C9ORF72 carriers
Objective: To develop molecular assays for determining the influence of hypermethylation on age of onset for C9ORF72 carriers. Background: Hexanucleotide repeats of GGGGCC in C9ORF72 is…Detection of genetic modifiers in PRKN
Objective: In this study, we investigate the Hypothesis 1 using Next-generation sequencing (NGS). Background: In 1998, we reported homozygous mutations of PRKN as the causative…Neurofascin is a novel gene associated with autosomal recessive spastic and polyneuropathy
Objective: We aim to find the genetic defect causing infantile-onset ataxia and mild demyelinating neuropathy in two siblings of an Italian consanguineous family. Background: Neurofascin…The Sequelae of Kernicterus
Objective: To highlight the long- term sequelae of Kernicterus Background: Kernicterus refers to the clinical features of chronic bilirubin encephalopathy which if not treated can…Fragile X Gray Zone Alleles in Men are associated with Parkinsonism
Objective: To determine the association between FMR1 gray zone expansions and the presence of parkinsonism, motor, and cognitive function in an elderly community-based population. Background:…Longitudinal analysis of disease progression in a large PKAN cohort in the Dominican Republic
Objective: To analyze the rate of disease progression of PKAN over a 12 year period in 37 patients with genetically-confirmed PKAN in the Dominican Republic.…
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