HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Neuroferritinopathy

Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the BASAL GANGLIA and other brain regions, resulting in movements similar to those observed in PARKINSONISM and DYSTONIA. Age at onset, cognitive involvement, and mode of inheritance are variable. NBIA3 is autosomal dominant with age of onset from 13 to 63 years of age and is caused by mutations in the FTL gene. OMIM: 606159
Also Known As:
Basal Ganglia Disease, Adult-Onset; Ferritin-Related Neurodegeneration; Hereditary Ferritinopathy; NBIA3; Neurodegeneration With Brain Iron Accumulation 3
Networked: 84 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1. Neuroferritinopathy
2. Neurodegenerative Diseases (Neurodegenerative Disease)
3. Movement Disorders (Movement Disorder)
4. Pantothenate Kinase-Associated Neurodegeneration (Hallervorden-Spatz Disease)
5. Friedreich Ataxia (Friedreich's Ataxia)

Experts

1. Vidal, Ruben: 13 articles (01/2019 - 01/2008)
2. Levi, Sonia: 10 articles (04/2021 - 06/2005)
3. Arosio, Paolo: 8 articles (10/2019 - 06/2005)
4. Chinnery, Patrick F: 8 articles (08/2012 - 11/2002)
5. Muhoberac, Barry B: 7 articles (01/2019 - 11/2008)
6. Burn, John: 7 articles (01/2014 - 11/2002)
7. Cozzi, Anna: 6 articles (04/2021 - 06/2005)
8. Baraibar, Martin A: 6 articles (05/2012 - 01/2008)
9. Chinnery, P F: 5 articles (01/2021 - 08/2001)
10. Ghetti, Bernardino: 5 articles (01/2016 - 01/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Neuroferritinopathy:
1. IronIBA
2. ApoferritinsIBA
3. Ferritins (Ferritin)IBA
4. Familial apoceruloplasmin deficiencyIBA
5. Proteins (Proteins, Gene)FDA Link
6. Peptides (Polypeptides)IBA
7. pantothenate kinaseIBA
03/01/2012 - "The conditions considered are Friedreich ataxia (FA), pantothenate kinase 2-associated neurodegeneration (PKAN), PLA2G6-associated neurodegeneration (PLAN), FA2H-associated neurodegeneration (FAHN), Kufor-Rakeb disease (KRD), aceruloplasminemia, and neuroferritinopathy. "
11/01/2010 - "We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter. "
08/03/2022 - "NBIA groups disorders include: pantothenate kinase-associated neurodegeneration (PKAN), mutations in the gene encoding pantothenate kinase 2 (PANK2); neuroferritinopathy, mutations in the calcium-independent phospholipase A2 gene (PLA2G6); aceruloplasminemia; and other subtypes with no specific clinical or MRI specific patterns identified. "
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. "
8. NucleotidesIBA
9. Tetrabenazine (Nitoman)FDA Link
10. GlobinsIBA

Therapies and Procedures

1. Therapeutics