A novel phenotype associated with GRN mutations: Spastic ataxia
Objective: We report a patient with Spastic Ataxia caused by new homozygous mutations in the GRN gene. Background: The gene GRN located on chromosome 17…A clinico-genetical study in a large cohort of patients with spastic paraplegia type 4 (SPG4)
Objective: This study includes the evaluation of a comprehensive spectrum of neurological features and the mutational screening of the SPG4/SPAST gene in patients with hereditary…Alternating hemiplegia of childhood (AHC) as a new presentation of adenylate cyclase 5 (ADCY5)-mutation-associated disease
Objective: To expand and determine the clinical spectrum associated with mutations in the Adenylate Cyclase 5 gene (ADCY5). Background: Recently, mutations in the ADCY5 gene…A pilot study of whole exome sequencing in progressive supranuclear palsy
Objective: To identify genetic variants associated with Progressive Supranuclear Palsy (PSP) using whole exome sequencing. Background: PSP is a rare tauopathy but is the second…The distinguishing clinical features of rapid-onset-parkinson-dystonia (RDP) syndrome due to ATP1A3 mutations
Objective: To determine characteristics that distinguish individuals with presentation suggestive of RDP in ATP1A3 mutation carriers compared with non-carriers. Background: Mutations in the ATP1A3 gene…A rare genetic transcriptomopathy syndrome involving TAF1 leading to insights into more common neurologic disorders, including X-linked dystonia-parkinsonism (XDP)
Objective: We set out to discover the genetic basis of an X-linked genetic syndrome presenting with global developmental delay, intellectual disability, characteristic facial dysmorphology, generalized…FBOX07 mutation with juvenile parkinsonism and behavioral disorders
Objective: FBX07 (PARK15) mutations cause juvenile parkinsonism with autosomal ressesive inheritance. Juvenile parkinsonism, pyramidal tract signs and atypical symptoms such as dystonia, chorea, behavioral disturbances,…Reduced thalamo-cortical functional connectivity in asymptomatic LRRK2 mutation carriers
Objective: To characterize MRI functional patterns during resting state in asymptomatic LRRK2 mutation carriers. Background: Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are…Phenotypic characteristics in GBA-associated Parkinson’s disease (PD): A study in a Greek population
Objective: To evaluate whether there are distinct motor and non-motor symptom characteristics in GBA-associated PD (GBA-PD) in a Greek population. Background: Mutations in the GBA1…In utero delivery of scAAV9 mediates widespread brain transduction in rats and monkeys: Towards new models of Parkinson’s disease
Objective: Our objective was to create transgenic mammals using systemic delivery of adeno-associated virus serotype 9 (AAV2/9). Background: The adeno-associated virus serotype 9 (AAV2/9) crosses…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.