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…Neurodegeneration associated with pantothenate kinase in a Mexican Patient: Solving the Diagnostic Challenge of the Eye of Tiger
Objective: To describe the case of a patient with PKAN in Mexico, where we have a few information about inherited movement disorders, which makes the…A novel compound heterozygous PANK2 gene mutation in a South- Asian sexagenarian with atypical PKAN
Objective: To study the clinical course, imaging and genetics of a case of late-onset dystonia-parkinsonism suspected to have Neurodegeneration with Brain Iron Accumulation (NBIA). Background:…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…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.