Neurodegeneration with iron deposition in the brain
Classification according to ICD-10 | |
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G23.0 | Hallervorden-Spatz syndrome |
ICD-10 online (WHO version 2019) |
The neurodegeneration with brain iron accumulation (NBIA, Eng. Neurodegeneration with Brain Iron Accumulation) is a group of neurodegenerative diseases , in particularly in the basal ganglia ( pallidus globe and substantia nigra ) but abnormally in other brain areas can be detected elevated levels of iron . At the same time, various physical and mental impairments occur. Initially, this term was introduced as a synonym for Hallervorden-Spatz syndrome (HSS). Over time, however, it was recognized that a number of causes lead to the accumulation of iron. Therefore, the HSS is only a variant of NBIA and is now equated with pantothenate kinase-associated neurodegeneration (PKAN). However, it can be assumed that among the patients described by Julius Hallervorden and Hugo Spatz , the namesake of this disease, there were also some who are affected by one of the various other variants of NBIA. Since Hallervorden and Spatz benefited from the euthanasia programs in Germany in the 1940s during their research , the new name is preferred.
variants
NBIA variant | gene | Inheritance | MRI diagnosis | Clinical picture |
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Pantothenate kinase-associated neurodegeneration (PKAN) | PANK2 | autosomal recessive | Tiger's eye in the Globus pallidus |
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Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) | C19orf12 | autosomal recessive | Iron deposits in the globus pallidus and substantia nigra ; z. T. cerebellar atrophy |
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PLA2G6-associated neurodegeneration (PLAN) | PLA2G6 | autosomal recessive | cerebellar atrophy , iron deposits in the globus pallidus and substantia nigra (not detectable in all cases) |
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Beta Propeller Protein Associated Neurodegeneration (BPAN) | WDR45 | X-linked dominant , (mostly de novo ) | Iron deposits in the substantia nigra are stronger than in the globus pallidus |
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Acaeruloplasminemia | CP | autosomal recessive | Iron deposits in the brain ( globus pallidus , thalamus , putamen , nucleus caudatus and dentatus ) and in internal organs ( liver ) |
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COASY protein-associated neurodegeneration (CoPAN) | COASY | autosomal recessive | Iron deposits in the globus pallidus and substantia nigra ; z. T. calcifications in the globus pallidus |
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Fatty acid hydroxylase-associated neurodegeneration (FAHN) | FA2H | autosomal recessive | Iron deposits in the globus pallidus and substantia nigra ; pontocerebellar atrophy, thinning of the corpus callosum |
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Kufor-Rakeb Syndrome | ATP13A2 | autosomal recessive | Generalized brain atrophy, variable intracerebral iron deposition |
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Neuroferritinopathy | FTL | autosomal dominant | Iron deposits in the globus pallidus , putamen , thalamus ; cystic changes in the basal ganglia |
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Woodhouse-Sakati syndrome | DCAF17 | autosomal recessive | Elevated iron in the globus pallidus and substantia nigra , leukoencephalopathy |
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NBIA7 | REPS1 | autosomal recessive | cerebellar and cerebral atrophy , thin corpus callosum , iron deposits in the globus pallidus and in the cerebellar style |
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NBIA8 | CRAT | autosomal recessive | cerebellar atrophy , iron deposits in the basal ganglia , globus pallidus and substantia nigra |
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A number of idiopathic NBIA disorders exist for which little or incomplete information is currently available.
The German patient organization Hoffnungsbaum e. V. together with ACHSE e. V. , the umbrella organization for rare diseases , published a patient-oriented description of NBIA in 2017, which contains a few more details and information.
state of research
These diseases are subject to active medical research. Since PKAN has been known for a long time, this is where the scientific and therapeutic findings are currently the most advanced. In general, every single NBIA variant is a very rare disease . Medical research suffers from a lack of funding. New advances are slow to be made. It is to be expected that additional symptoms and diagnoses will be determined through the evaluation of further progress studies .
Interest groups and self-help groups
Individual evidence
- ↑ Christina Berndt: Experiments from the Nazi era catch up with the Max Planck Society. In: Süddeutsche Zeitung. Süddeutscher Verlag, April 25, 2017, accessed on May 2, 2018 .
- ↑ Pamela Dörhöfer: Research without any scruples. In: Frankfurter Rundschau. May 8, 2015, accessed May 2, 2018 .
- ↑ Introduction and clinical symptoms. In: NBIA - clinical pictures. Friedrich-Baur-Institut, Klinikum der Universität München, accessed on April 28, 2018 .
- ^ Allison Gregory, Susan Hayflick: Neurodegeneration with Brain Iron Accumulation Disorders Overview . In: GeneReviews® . University of Washington, Seattle, Seattle WA 1993, PMID 23447832 ( nih.gov [accessed May 3, 2018]).
- ^ Penelope Hogarth: Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management . In: Journal of Movement Disorders . tape 8 , no. 1 , January 13, 2015, ISSN 2005-940X , p. 1–13 , doi : 10.14802 / jmd.14034 , PMID 25614780 , PMC 4298713 (free full text) - ( e-jmd.org [accessed May 13, 2018]).
- ↑ Allison Gregory, Susan J. Hayflick: Pantothenate Kinase-Associated Neurodegeneration . In: GeneReviews® . University of Washington, Seattle, Seattle WA 1993, PMID 20301663, ( nih.gov [accessed May 3, 2018]).
- ↑ Allison Gregory, Monika Hartig, Holger Prokisch, Tomasz Kmiec, Penelope Hogarth, Susan J. Hayflick: Mitochondrial Membrane Protein-Associated Neurodegeneration . In: Margaret P. Adam, Holly H. Ardinger, Roberta A. Pagon, Stephanie E. Wallace (Eds.): GeneReviews® [Internet] . https://www.ncbi.nlm.nih.gov/books/NBK185329 . University of Washington, February 27, 2014, ISSN 2372-0697 .
- ↑ Allison Gregory, Manju A. Kurian, Eamonn R. Maher, Penelope Hogarth, Susan J. Hayflick: PLA2G6-Associated Neurodegeneration . In: GeneReviews® . University of Washington, Seattle, Seattle WA 1993, PMID 20301718 ( nih.gov [accessed May 3, 2018]).
- ^ Allison Gregory, Manju A. Kurian, Tobias Haack, Susan J. Hayflick, Penelope Hogarth: Beta-Propeller Protein-Associated Neurodegeneration . In: GeneReviews® . University of Washington, Seattle, Seattle WA 1993, PMID 28211668 ( nih.gov [accessed May 3, 2018]).
- ↑ Hiroaki Miyajima: Aceruloplasminemia . In: Noryiuki Shibata (Ed.): Neuropathology . tape 35 , no. 1 . Japanese Society of Neuropathology, August 28, 2014, ISSN 0919-6544 , p. 83-90 , doi : 10.1111 / neup.12149 ( wiley.com [accessed May 3, 2018]).
- ↑ Christina Evers, Angelika Seitz, Birgit Assmann, Thomas Opladen, Stephanie Karch, Katrin Hinderhofer, Martin Granzow, Nagarajan Paramasivam, Roland Eils, Nicolle Diessl, Claus R. Bartram, Ute Moog: Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye . In: American Journal of Medical Genetics Part A . tape 173 , no. 7 , May 10, 2017, ISSN 1552-4825 , p. 1878–1886 , doi : 10.1002 / ajmg.a.38252 ( wiley.com [accessed May 3, 2018]).
- ↑ Michael C. Kruer, Allison Gregory, Susan J. Hayflick: Fatty Acid Hydroxylase-Associated Neurodegeneration . In: GeneReviews® . University of Washington, Seattle, Seattle WA 1993, PMID 21735565 ( nih.gov [accessed May 3, 2018]).
- ↑ DJ Hampshire, E. Roberts, Y. Crow, J. Bond, A. Mubaidin: Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36 . In: Journal of Medical Genetics . tape 38 , no. October 10 , 2001, ISSN 1468-6244 , p. 680-682 , doi : 10.1136 / jmg.38.10.680 , PMID 11584046 , PMC 1734748 (free full text).
- ↑ Patrick F. Chinnery: Neuroferritinopathy . In: GeneReviews® . University of Washington, Seattle, Seattle WA 1993, PMID 20301320 ( nih.gov [accessed May 3, 2018]).
- ↑ Saeed A. Bohlega, Fowzan S. Alkuraya: Woodhouse-Sakati Syndrome . In: GeneReviews® . University of Washington, Seattle, Seattle WA 1993, PMID 27489925 ( nih.gov [accessed May 3, 2018]).
- ↑ a b Anthony Drecourt, Joël Babdor, Michael Dussiot, Floriane Petit, Nicolas Goudin: Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation . In: The American Journal of Human Genetics . tape 102 , no. 2 , February 2018, ISSN 0002-9297 , p. 266–277 , doi : 10.1016 / j.ajhg.2018.01.003 , PMID 29395073 ( elsevier.com [accessed May 13, 2018]).
- ↑ A. Klucken, H. Jaskolka: Neurodegeneration with iron deposition in the brain (PDF) ACHSENetzwerk. Retrieved September 14, 2019.