Long-term follow up of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration Syndrome: two case reports
Objective: To present the long-term outcomes of deep brain stimulation in two cases of Pantothenate kinase-associated neurodegeneration (PKAN) syndrome. Background: PKAN syndrome is an autosomal-recessive…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…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…
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