Compound heterozygous PANK2 variants in two unrelated kindreds with atypical PKAN
Objective: To describe two unrelated individuals with progressive, late-onset Pantothenate kinase-associated neurodegeneration (PKAN) and a common missense variant in the PANK2 gene Background: Neurodegeneration with Brain-Iron Accumulation…Clinical,imaging and genetic correlations in a Neuronal Brain Iron accumulation cohort from India
Objective: To correlate, clinical and magnetic resonance imaging (MRI) characteristics, of patients with neurodegeneration with brain iron accumulation (NBIA), with genetics and establish genotype-phenotype correlations…Eye-of-the-Tiger sign in Progressive Supranuclear Palsy
Objective: To present a rare case of eye-of-the-tiger sign in a patient with progressive supranuclear palsy (PSP). Background: The eye-of-the-tiger is a neuroradiologic sign appearing…BBP-671, AN INVESTIGATIONAL MODULATOR OF PANTOTHENATE KINASES, DEMONSTRATES PROOF OF CONCEPT IN A PKAN MOUSE MODEL AND TARGET ENGAGEMENT IN HUMANS
Objective: Efficacy of BBP-671 as a potential therapy for pantothenate kinase-associated neurodegeneration (PKAN) was evaluated in a PKAN mouse model. Safety, PK, and PD of…Axial hypotonia – A pointer towards NBIA – PLA2G6-Associated Neurodegeneration
Objective: While phenotypic spectrum of Neurodegeneration with brain iron accumulation is quite diverse, we discuss a case with peculiar axial hypotonia, a pointer towards PLA2G6…Epidemiological, clinical and paraclinical characteristics of metals accumulation in brain in childhood
Objective: The aim of our study is to describe epidemiological, clinical, and paraclinical characteristics of metals accumulation in brain in children. Background: Movement disorders can…Clinical, imaging and genetic profile of patients with NBIA spectrum disorders
Objective: To describe the clinical, imaging and genetic profile of patients with suspected NBIA disorders Background: NBIA disorders are clinically, radiologically and genetically heterogenous group…Precision Medicine in Neurodegeneration associated with Pantothenate kinase (PKAN) , its possible?
Objective: The objective of this review is to open a discussion on the usefulness of the use of cell models derived from patients as a…Long-term clinical outcome of deep brain stimulation in pantothenate kinase-associated neurodegeneration: a retrospective observational study
Objective: To report the long-term clinical follow-up data of PKAN patients who underwent DBS implantation in three tertiary movement disorder centers. Background: Pantothenate kinase-associated neurodegeneration…Deep brain stimulation for generalized dystonia
Objective: Objective : Author presents a group of patients with generalized dystonia treated with deep brain stimulation (DBS). Background: 32 patients (18 male, 16 female)…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.