Neurodegeneration with brain iron accumulation (NBIA)

A progressive neurodegenerative disorder with onset in childhood that is characterized by PARKINSON DISEASE-like symptoms, DYSTONIA; and DEMENTIA. It is associated with mutations in the PANK2 gene (see PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION). OMIM: 234200

Networked: 143 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Dystonia (Limb Dystonia)
2.	Contracture
3.	Neurodegenerative Diseases (Neurodegenerative Disease)
4.	Pantothenate Kinase-Associated Neurodegeneration (Hallervorden-Spatz Disease)
5.	Inborn Genetic Diseases (Disease, Hereditary)

Experts

1.	Tiranti, Valeria: 12 articles (01/2019 - 10/2011)
2.	Zorzi, Giovanna: 10 articles (01/2019 - 07/2006)
3.	Nardocci, Nardo: 9 articles (01/2019 - 07/2006)
4.	Hayflick, Susan J: 8 articles (01/2021 - 01/2005)
5.	Prokisch, Holger: 8 articles (01/2018 - 10/2011)
6.	Schneider, Susanne A: 7 articles (01/2021 - 11/2010)
7.	Garavaglia, Barbara: 7 articles (03/2020 - 06/2012)
8.	Gregory, Allison: 7 articles (01/2017 - 01/2005)
9.	Kurian, Manju A: 6 articles (01/2021 - 05/2011)
10.	Iuso, Arcangela: 5 articles (01/2022 - 10/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Neurodegeneration with brain iron accumulation (NBIA):

1.	IronIBA 09/26/2023 - "Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain. " 09/01/2021 - "A disturbed iron metabolism may damage brain and trigger disorders known as neurodegeneration with brain iron accumulation (NBIA). " 06/01/2021 - "Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic degenerative diseases caused by genetic mutations and characterized by iron deposition in the central nervous system, especially in the basal ganglia, with an overall incidence rate of 2/1 000 000-3/1 000 000. " 01/01/2021 - "Neurodegeneration with brain iron accumulation (NBIA) disorders comprise a group of rare but devastating inherited neurological diseases with unifying features of progressive cognitive and motor decline, and increased iron deposition in the basal ganglia. " 01/01/2021 - "In order to improve clinical care, coordinate research activities and raise awareness for the ultra-orphan Neurodegeneration with Brain Iron Accumulation (NBIA) disorders, a group of NBIA clinicians and researchers, industry partners and patient advocacies from six European countries, Canada and the US joined forces in 2010 to set-up the collaborative initiative TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration). "
2.	Proteins (Proteins, Gene)FDA Link 10/13/2023 - "Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an ultraorphan neurogenetic disease from the group of Neurodegeneration with Brain Iron Accumulation (NBIA) disorders. " 08/23/2022 - "Beta-propeller protein-associated neurodegeneration (BPAN) is a subtype of neurodegeneration with brain iron accumulation (NBIA) caused by loss-of-function variants in WDR45. " 11/19/2021 - "De novo heterozygous mutations in WDR45 have been known to cause β-propeller protein-associated neurodegeneration (BPAN), a subtype of neurodegeneration with brain iron accumulation (NBIA). " 01/01/2020 - "Beta-propeller protein-associated neurodegeneration (BPAN) is a very rare, X-linked dominant (XLD) inherited member of the neurodegeneration with brain iron accumulation (NBIA) disease family. " 01/01/2019 - "Mutations in WDR45 cause β-propeller protein-associated neurodegeneration (BPAN), a type of neurodegeneration with brain iron accumulation (NBIA). "
3.	pantothenate kinaseIBA 01/01/2017 - "Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). " 01/01/2015 - "Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). " 05/15/2014 - "Pantothenate kinase-associated neurodegeneration (PKAN) is the commonest, recessively inherited form of neurodegeneration with brain iron accumulation (NBIA) resulting from mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20. " 02/01/2013 - "Mutations in the pantothenate kinase 2 gene (PANK2) are responsible for the most common type of neurodegeneration with brain iron accumulation (NBIA), known as pantothenate kinase-associated neurodegeneration (PKAN). " 06/01/2006 - "Patients with a clinical diagnosis of neurodegeneration with brain iron accumulation (NBIA, formerly called Hallervorden-Spatz syndrome) often have mutations in PANK2, the gene encoding pantothenate kinase 2. We investigated correlations between brain MR imaging changes, mutation status, and clinical disease features. "
4.	Coenzyme A (CoA)IBA 01/01/2015 - "Mutations in nuclear genes associated with defective coenzyme A biosynthesis have been identified as responsible for some forms of neurodegeneration with brain iron accumulation (NBIA), namely PKAN and CoPAN. " 01/01/2022 - "Mutations in PPCS cause autosomal-recessive dilated cardiomyopathy, often fatal, without apparent neurodegeneration, whereas pathogenic variants in PANK2 and COASY, two other genes involved in the CoA synthesis, cause Neurodegeneration with Brain Iron Accumulation (NBIA). " 01/01/2019 - "Two inborn errors of coenzyme A (CoA) metabolism are responsible for distinct forms of neurodegeneration with brain iron accumulation (NBIA), a heterogeneous group of neurodegenerative diseases having as a common denominator iron accumulation mainly in the inner portion of globus pallidus. " 01/01/2018 - "Inborn errors of CoA biosynthesis have been implicated in neurodegeneration with brain iron accumulation (NBIA), a group of rare neurological disorders characterized by accumulation of iron in the basal ganglia and progressive neurodegeneration. "
5.	Familial apoceruloplasmin deficiencyIBA 03/01/2015 - "Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism." 08/01/2012 - "Aceruloplasminemia is classified as an inherited neurodegenerative disorder called "neurodegeneration with brain iron accumulation" (NBIA) due to genetic defects associated with iron metabolism. " 01/01/2014 - "Iron brain disorders are divided into genetic neurodegeneration with brain iron accumulation (NBIA, neuroferritinopathy, and aceruloplasminemia), genetic systemic iron accumulation with neurologic features (hemochromatosis), and acquired diseases associated with iron excess (superficial siderosis) or iron deficiency (restless leg syndrome). " 04/01/2012 - "Neurodegeneration with brain iron accumulation (NBIA) involves several genetic disorders, two of which, aceruloplasminemia and neuroferritinopathy, are caused by mutations in genes directly involved in iron metabolic pathway, and others, such as pantothenate-kinase 2, phospholipase-A2 and fatty acid 2-hydroxylase associated neurodegeneration, are caused by mutations in genes coding for proteins involved in phospholipid metabolism. "
6.	Phospholipases (Phospholipase)IBA 10/15/2017 - "Phospholipase A2-associated neurodegeneration (PLAN), a syndrome of Neurodegeneration with Brain Iron Accumulation (NBIA), is an autosomal recessive disorder caused by mutations in PLA2G6 gene. " 01/01/2019 - "PLA2G6-associated neurodegeneration (PLAN, NBIA2) is the second most common type of neurodegeneration with brain iron accumulation (NBIA), caused by recessive mutations of PLA2G6 gene, which encodes Ca2+-independent phospholipase A2β (iPLA2β). " 10/28/2008 - "Mutations in the gene encoding phospholipase A(2) group VI (PLA2G6) are associated with two childhood neurologic disorders: infantile neuroaxonal dystrophy (INAD) and idiopathic neurodegeneration with brain iron accumulation (NBIA). "
7.	Phospholipases A2 (Phospholipase A2)IBA 06/01/2014 - "Phospholipase A2 associated neurodegeneration (PLAN) is a major phenotype of autosomal recessive Neurodegeneration with Brain Iron Accumulation (NBIA). " 04/01/2012 - "The 2 major types of neurodegeneration with brain iron accumulation (NBIA) are the pantothenate kinase type 2 (PANK2)-associated neurodegeneration (PKAN) and NBIA2 or infantile neuroaxonal dystrophy (INAD) due to mutations in the phospholipase A2, group VI (PLA2G6) gene. "
8.	Biomarkers (Surrogate Marker)IBA 05/01/2015 - "We assessed F-fluorodeoxyglucose (¹⁸F-FDG) PET/computed tomography (CT) brain imaging in childhood primary dystonia (PDS) and neurodegeneration with brain iron accumulation (NBIA) to determine whether it would identify altered metabolism and hence constitute a potentially useful 'biomarker' indicating functional disturbances associated with dystonia and severity of the disease. " 12/15/2021 - "Non-invasive measures of brain iron content would be of great benefit in neurodegeneration with brain iron accumulation (NBIA) to serve as a biomarker for disease progression and evaluation of iron chelation therapy. "
9.	Cysteine (L-Cysteine)FDA Link 10/01/2007 - "Neurodegeneration with brain iron accumulation (NBIA), or Hallervorden- Spatz disease, is an extremely rare autosomal recessive disorder with cysteine-iron complex accumulation in globus pallidus, seen histopathologically. " 01/01/2019 - "The network biology data demonstrated the association of secreted protein acidic and rich in cysteine (SPARC/osteonectin) protein with Alzheimer's disease, Parkinson's disease, Huntington's disease and neurodegeneration with brain iron accumulation (NBIA) disease, whereas Coagulation factor V may have a role in Brunner Syndrome, Obsessive-Compulsive Disorder, Febrile seizures and Schizophrenia diseases. "
10.	DeferiproneIBA 06/01/2014 - "Efficacy and safety of deferiprone for the treatment of pantothenate kinase-associated neurodegeneration (PKAN) and neurodegeneration with brain iron accumulation (NBIA): results from a four years follow-up." 04/30/2008 - "We report the results of iron chelating treatment with deferiprone in a 61-year-old woman with signs and symptoms of neurodegeneration with brain iron accumulation (NBIA). "

Therapies and Procedures

1.	Deep Brain Stimulation 06/01/2013 - "The aim of this study was to examine the impact of dystonia aetiology and duration, contracture, and age at deep brain stimulation (DBS) surgery on outcome in a cohort of children with medically refractory, disabling primary, secondary-static, or secondary-progressive dystonias, including neurodegeneration with brain iron accumulation (NBIA). "
2.	Therapeutics 01/01/2021 - "This article provides an up-to-date review of the current literature about Neurodegeneration with Brain Iron Accumulation (NBIA), with a focus on disease pathophysiology, current and previously trialed therapies, and future treatments in development, including consideration of potential genetic therapy approaches." 01/01/2021 - "Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders."
3.	Chelation Therapy (Therapy, Chelation) 12/15/2021 - "Non-invasive measures of brain iron content would be of great benefit in neurodegeneration with brain iron accumulation (NBIA) to serve as a biomarker for disease progression and evaluation of iron chelation therapy. "
4.	Euthanasia (Mercy Killing) 11/01/2021 - "Hallervorden-Spatz disease (HSD) has been recently renamed to pantothenate kinase-associated neurodegeneration (PKAN) and neurodegeneration with brain iron accumulation (NBIA), mainly due to the unethical behavior of Julius Hallervorden in the National Socialist (NS) euthanasia program of the Nazi Third Reich. "