Cargando…

A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy

We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and description of her clinical condition are provided. Her movement disorder phenomenology wa...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lim, Shen-Yang, Tan, Ai Huey, Ahmad-Annuar, Azlina, Schneider, Susanne A., Bee, Ping Chong, Lim, Jia Lun, Ramli, Norlisah, Idris, Mohamad Imran
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Movement Disorder Society 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990906/ https://www.ncbi.nlm.nih.gov/pubmed/29860786 http://dx.doi.org/10.14802/jmd.17082

Ejemplares similares

Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy
por: Fonderico, Mattia, et al.
Publicado: (2017)

Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities
por: Tan, Ai Huey, et al.
Publicado: (2019)

Purposeless Groaning in Parkinson’s Disease
por: Lim, Shen-Yang, et al.
Publicado: (2018)

Ferrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN)
por: Ingrassia, Rosaria, et al.
Publicado: (2017)

Quantitative magnetic resonance imaging and radiogenomic biomarkers for glioma characterisation: a systematic review
por: Seow, Pohchoo, et al.
Publicado: (2018)

Early-Onset Parkinsonism and Halo Sign: Beta-propeller Proteinassociated Neurodegeneration
por: Samanta, Debopam, et al.
Publicado: (2020)

T2 Star-weighted MRI of Beta-propeller Protein-associated Neurodegeneration
por: Maeda, Kengo, et al.
Publicado: (2020)

Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45
por: Ryu, Sook Won, et al.
Publicado: (2015)

Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy
por: Paudel, R., et al.
Publicado: (2015)

Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature
por: Stige, Kjersti Eline, et al.
Publicado: (2018)

Beta-Propeller Protein-Associated Neurodegeneration (BPAN) Detected in a Child with Epileptic Spasms
por: Kaleka, Guneet, et al.
Publicado: (2019)

Beta-propeller protein-associated neurodegeneration: A clinical update with a case report
por: Mansour, Moustafa A., et al.
Publicado: (2023)

Hyperglycemia-Associated Hemichorea-Hemiballismus with Predominant Ipsilateral Putaminal Abnormality on Neuroimaging
por: Fong, Si Lei, et al.
Publicado: (2019)

Missense Mutation of Brain Derived Neurotrophic Factor (BDNF) Alters Neurocognitive Performance in Patients with Mild Traumatic Brain Injury: A Longitudinal Study
por: Narayanan, Vairavan, et al.
Publicado: (2016)

Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum
por: Chard, Marisa, et al.
Publicado: (2019)

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45
por: Hermann, Andreas, et al.
Publicado: (2017)

Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy
por: Löbel, Ulrike, et al.
Publicado: (2014)

Promoting Adherence to Iron Chelation Treatment in Beta-Thalassemia Patients
por: Eziefula, Chinea, et al.
Publicado: (2022)

De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families
por: Tang, Xiaojun, et al.
Publicado: (2020)

Characteristic Neuroimaging Findings in β-propeller Protein-associated Neurodegeneration
por: Larsh, Travis
Publicado: (2021)

Ischemic Fasciitis of the Left Buttock in a 40-Year-Old Woman with Beta-Propeller Protein-Associated Neurodegeneration (BPAN)
por: Sakamoto, Akio, et al.
Publicado: (2018)

Beta Thalassemia: New Therapeutic Options Beyond Transfusion and Iron Chelation
por: Motta, Irene, et al.
Publicado: (2020)

A Perspective on the Role of microRNA-128 Regulation in Mental and Behavioral Disorders
por: Ching, Ai-Sze, et al.
Publicado: (2015)

A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
por: Closas, Alfand Marl F. Dy, et al.
Publicado: (2023)

Naringin Chelates Excessive Iron and Prevents the Formation of Amyloid-Beta Plaques in the Hippocampus of Iron-Overloaded Mice
por: Jahanshahi, Mehrdad, et al.
Publicado: (2021)

Iron Chelators in Treatment of Iron Overload
por: Entezari, Sarina, et al.
Publicado: (2022)

Iron Pathways and Iron Chelation Approaches in Viral, Microbial, and Fungal Infections
por: Chhabra, Ravneet, et al.
Publicado: (2020)

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)
por: Schneider, Susanne A, et al.
Publicado: (2013)

Unraveling the Burden of Iron in Neurodegeneration: Intersections with Amyloid Beta Peptide Pathology
por: Uranga, Romina María, et al.
Publicado: (2018)

Iron chelation and multiple sclerosis
por: Weigel, Kelsey J., et al.
Publicado: (2014)

Iron Chelation in Local Infection
por: Scott, Cassidy, et al.
Publicado: (2021)

Role of Iron Chelators in Mucormycosis
por: Mahalmani, Vidya, et al.
Publicado: (2021)

Conservative Iron Chelation for Neuroferritinopathy
por: Marchand, Felix, et al.
Publicado: (2022)

LRRK2 N551K and R1398H variants are protective in Malays and Chinese in Malaysia: A case–control association study for Parkinson's disease
por: Gopalai, Aroma Agape, et al.
Publicado: (2019)

Iron-Chelating Agent Can Maintain Bone Homeostasis Disrupted by Iron Overload by Upregulating Wnt/Beta-Catenin Signaling
por: Xu, Wei, et al.
Publicado: (2020)

Conservation of the Human Integrin-Type Beta-Propeller Domain in Bacteria
por: Chouhan, Bhanupratap, et al.
Publicado: (2011)

Synthesis of a Series of Dual-Functional Chelated Titanate Bonding Agents and Their Application Performances in Composite Solid Propellants
por: Lin, Guomin, et al.
Publicado: (2020)

Effects of oral iron chelator deferasirox on human malignant lymphoma cells
por: Choi, Jong Gwon, et al.
Publicado: (2012)

Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders
por: Iankova, Vassilena, et al.
Publicado: (2021)

A novel WDR45 mutation in a patient with β-propeller protein-associated neurodegeneration
por: Wynn, DonRaphael P., et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_4prjbdc5p1tglnf1jokt95uqkc