Atypical presentation of PANK2 mutation: A case report
Objective: To describe an atypical presentation of a PANK2 mutation. Background: PKAN (Pantothenate-Kinase-Associated Neurodegeneration) is the most common NBIA (Neurodegeneration with brain iron accumulation) disorder,…Autosomal dominant PANK2 mutation resulting in cervical dystonia with iron accumulation in the basal ganglia
Objective: Identification and functional analysis of the disease-causing gene in a family with dominantly inherited cervical dystonia. Background: With the introduction of next generation sequencing…A Randomized Trial of Deferiprone for Pantothenate Kinase-Associated Neurodegeneration
Objective: To investigate whether treatment with the iron-chelating drug deferiprone (DFP) has benefit in patients with pantothenate kinase-associated neurodegeneration (PKAN), the most common form of…Patient and Caregiver Experience With Pantothenate Kinase-Associated Neurodegeneration
Objective: To investigate the natural history of pantothenate kinase-associated neurodegeneration (PKAN) and the burden of illness. Background: PKAN is a rare autosomal recessive, progressive neurodegenerative…Analysis of sensory tricks in 45 patients with pantothenate kinase-associated neurodegeneration
Objective: To analyze and classify sensory tricks developed by patients with dystonia in the setting of pantothenate kinase-associated neurodegeneration (PKAN). Background: PKAN is a progressive…Development of a Clinical Outcomes Assessment (COA) in Pantothenate-Kinase Associated Neurodegeneration (PKAN): Item Generation and Clinimetric Properties
Objective: To develop a clinical outcome assessment (COA) scale that measures key aspects of functioning and daily living in patients with pantothenate kinase-associated neurodegeneration (PKAN)…Neurodegeneration with brain iron accumulation (NBIA): Two cases with different subtypes and a rare mutation
Objective: We present two cases with clinical, radiological and genetical (a very rare mutation) findings of neurodegeneration with brain iron accumulation (NBIA). Results: Case 1.…Pantotenate kinase associated neurodegeneration (PKAN): Proposal for a clinical rating scale
Objective: To design and validate a quantitative method for the assessment of PKAN patients. Background: Despite advances in the research of novel therapies for PKAN,…RE-024: Mechanism of action and efficacy in non-clinical models
Objective: To confirm the mechanism of action of RE-024, and evaluate its activity in human cellular models and brain penetration in animal models. Background: Pantothenate…Development of a human neuroblastoma model of pantothenate kinase-associated neurodegeneration
Objective: To establish a stable human neuronal model defective in PanK2. Background: Pantothenate Kinase-Associated Neurodegeneration (PKAN), is caused by mutations in PANK2, which encodes one…
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