Results 21 to 30 of about 1,850 (182)

Adductor laryngeal breathing dystonia in NBIA treated with botulinum toxin-A

Annals of Indian Academy of Neurology, 2013
We report a rare case of neurodegeneration with brain iron accumulation (NBIA) presented with episodic inspiratory stridor. A 10-year-old boy presented with 3-year history of gradually progressive spastic gait and generalized dystonia (involving all four limbs, neck, jaw, and speech). MRI brain showed "Eye of Tiger" sign.
Vinod Rai, Vinay Goyal, Garima Shukla, Girija Rath, Madhuri Behari   +4 more
openaire   +4 more sources

Complejidad de las bases genéticas de los trastornos NBIA [PDF]

, 2019
[ES] Las ENACH o NBIA (Neurodegeneration with Brain Iron Accumulation) comprenden un grupo heterogéneo de enfermedades hereditarias que suelen presentar depósitos de hierro en el cerebro, principalmente en los ganglios basales. Se trata de enfermedades raras con una prevalencia de 1/1.000.000.
Guillot Fernández, Marina
openaire   +3 more sources

FTH1-Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, Volume 13, Issue 5, Page 1333-1335, May 2026.
Chowdhury SR, Yoganathan S, Pai V, LeBlanc-Millar A, Chau V, Mendoza-Londono R, Dupuis L, Gorodetsky C.   +7 more
europepmc   +2 more sources

MOESM1 of Cortical pencil lining on SWI MRI in NBIA and healthy aging

, 2019
Additional file 1: Table S1. NBIA patient demographics. Figure S1. SWI with the positioning of the circular region-of-interest. Figure S2. Presence or absence of cortical pencil lining.
Weijden, Marlous, Laar, Peter, Lambrechts, Roald, Verbeek, Dineke, Tijssen, Marina   +4 more
openaire   +2 more sources

When Pathways Converge: Iron, Lipid Peroxidation, and α-Synuclein in Ferroptosis-Driven Dopaminergic Neurodegeneration. [PDF]

J Neurochem
Dopaminergic neurons are particularly susceptible to ferroptosis. Pacemaking activity–driven calcium (Ca2+) influx increases metabolic demand and reactive oxygen species (ROS) production, promoting iron release from aconitase. Alpha‐synuclein (α‐syn) enhances iron uptake via transferrin receptor 1 (TfR1) and exhibits ferrireductase activity, converting
Sperlich CL, Stockwell BR, Farina M.
europepmc   +2 more sources

Biallelic Variants in SLC27A3 Cause a Complex Form of Neurodegeneration with Brain Iron Accumulation. [PDF]

Mov Disord
Abstract Background Complex lipid metabolism is one of the main biological pathways disrupted in neurodegeneration with brain iron accumulation (NBIA). SLC27A3 gene encodes for the very long‐chain acyl‐CoA synthetase 3, an acyl‐CoA ligase that activates long and very long‐chain fatty acids.
Travaglini L, Jeon C, Rizza T, Novelli A, Specchio N, Piluso A, Bertini E, Iuso A, Garone G.   +8 more
europepmc   +2 more sources

Patient-Derived Neurons Exhibit α-Synuclein Pathology and Previously Unrecognized Major Histocompatibility Complex Class I Elevation in Mitochondrial Membrane Protein-Associated Neurodegeneration. [PDF]

Mov Disord
Abstract Background Mitochondrial membrane protein–associated neurodegeneration (MPAN) from the neurodegeneration with brain iron accumulation (NBIA) family is a rare neurodegenerative disease marked by α‐synuclein aggregation, brain iron accumulation, and midbrain dopaminergic neuron degeneration.
Heger LM, Kertess L, Kaufhold C, Gubinelli F, Cardona-Alberich A, Özata G, Müller SA, Tschirner SK, Stehling O, Schifferer M, Peron C, Tiranti V, Lill R, Iuso A, Zecca L, Strupp M, Oertel W, Lichtenthaler SF, Burbulla LF.   +18 more
europepmc   +2 more sources

Clinical Evaluation of Three KRS Families and Cellular Analysis of Distinct ATP13A2 Mutations Reveal Different Levels of Iron Accumulation. [PDF]

J Neurochem
Different ATP13A2 mutations associated with Kufor‐Rakeb Syndrome (KRS) result in varying levels of intracellular iron accumulation. Frameshift and deletion mutations lead to excessive iron accumulation and increased cell death, whereas missense mutations cause milder functional impairment, resulting in lower iron accumulation and reduced cellular ...
Erterek E, Temizci B, Tekgül Ş, Çakır B, Başak AN, Gültekin M, Yapıcı Z, Karabay A.   +7 more
europepmc   +2 more sources

Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, Volume 12, Issue 10, Page 1668-1671, October 2025.
Cuinat S, Dubourg C, Nicolas G, de Sainte Agathe JM, Odent S, Pasquier L, Riou A.   +6 more
europepmc   +2 more sources

Addressing Behavioral and Psychiatric Symptoms in Dystonia: A Case Report of Fahr Disease. [PDF]

Clin Case Rep
ABSTRACT Abnormal calcium deposits in areas of the brain that control movement, including basal ganglia and cerebellum, are the hallmark of Fahr's syndrome. This report highlights the importance of clinicians being vigilant regarding behavioral and neuropsychiatric symptoms when evaluating cases of dystonia.
Khoeini T, Sinaeefar MJ.
europepmc   +2 more sources