Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes
There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetica...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Batla, Amit [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2017 |
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| Schlagwörter: |
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| Umfang: |
10 |
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| Übergeordnetes Werk: |
Enthalten in: Parkinsonism & related disorders - Aral, Efecan ELSEVIER, 2022, official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders, Amsterdam [u.a.] |
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| Übergeordnetes Werk: |
volume:37 ; year:2017 ; pages:1-10 ; extent:10 |
| Links: |
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| DOI / URN: |
10.1016/j.parkreldis.2016.12.024 |
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| 520 | |a There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. | ||
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10.1016/j.parkreldis.2016.12.024 doi GBVA2017018000019.pica (DE-627)ELV036082732 (ELSEVIER)S1353-8020(16)30517-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 42.13 bkl 44.33 bkl Batla, Amit verfasserin aut Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes 2017 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. Primary familial brain calcification Elsevier Basal ganglia calcification Elsevier Hypoparathyroid Elsevier Fahr's disease Elsevier SLC20A2 Elsevier Tai, Xin You oth Schottlaender, Lucia oth Erro, Robert oth Balint, Bettina oth Bhatia, Kailash P. oth Enthalten in Elsevier Science Aral, Efecan ELSEVIER Parkinsonism & related disorders 2022 official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders Amsterdam [u.a.] (DE-627)ELV009218491 volume:37 year:2017 pages:1-10 extent:10 https://doi.org/10.1016/j.parkreldis.2016.12.024 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 37 2017 1-10 10 045F 610 |
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10.1016/j.parkreldis.2016.12.024 doi GBVA2017018000019.pica (DE-627)ELV036082732 (ELSEVIER)S1353-8020(16)30517-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 42.13 bkl 44.33 bkl Batla, Amit verfasserin aut Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes 2017 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. Primary familial brain calcification Elsevier Basal ganglia calcification Elsevier Hypoparathyroid Elsevier Fahr's disease Elsevier SLC20A2 Elsevier Tai, Xin You oth Schottlaender, Lucia oth Erro, Robert oth Balint, Bettina oth Bhatia, Kailash P. oth Enthalten in Elsevier Science Aral, Efecan ELSEVIER Parkinsonism & related disorders 2022 official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders Amsterdam [u.a.] (DE-627)ELV009218491 volume:37 year:2017 pages:1-10 extent:10 https://doi.org/10.1016/j.parkreldis.2016.12.024 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 37 2017 1-10 10 045F 610 |
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10.1016/j.parkreldis.2016.12.024 doi GBVA2017018000019.pica (DE-627)ELV036082732 (ELSEVIER)S1353-8020(16)30517-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 42.13 bkl 44.33 bkl Batla, Amit verfasserin aut Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes 2017 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. Primary familial brain calcification Elsevier Basal ganglia calcification Elsevier Hypoparathyroid Elsevier Fahr's disease Elsevier SLC20A2 Elsevier Tai, Xin You oth Schottlaender, Lucia oth Erro, Robert oth Balint, Bettina oth Bhatia, Kailash P. oth Enthalten in Elsevier Science Aral, Efecan ELSEVIER Parkinsonism & related disorders 2022 official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders Amsterdam [u.a.] (DE-627)ELV009218491 volume:37 year:2017 pages:1-10 extent:10 https://doi.org/10.1016/j.parkreldis.2016.12.024 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 37 2017 1-10 10 045F 610 |
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10.1016/j.parkreldis.2016.12.024 doi GBVA2017018000019.pica (DE-627)ELV036082732 (ELSEVIER)S1353-8020(16)30517-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 42.13 bkl 44.33 bkl Batla, Amit verfasserin aut Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes 2017 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. Primary familial brain calcification Elsevier Basal ganglia calcification Elsevier Hypoparathyroid Elsevier Fahr's disease Elsevier SLC20A2 Elsevier Tai, Xin You oth Schottlaender, Lucia oth Erro, Robert oth Balint, Bettina oth Bhatia, Kailash P. oth Enthalten in Elsevier Science Aral, Efecan ELSEVIER Parkinsonism & related disorders 2022 official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders Amsterdam [u.a.] (DE-627)ELV009218491 volume:37 year:2017 pages:1-10 extent:10 https://doi.org/10.1016/j.parkreldis.2016.12.024 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 37 2017 1-10 10 045F 610 |
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10.1016/j.parkreldis.2016.12.024 doi GBVA2017018000019.pica (DE-627)ELV036082732 (ELSEVIER)S1353-8020(16)30517-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 42.13 bkl 44.33 bkl Batla, Amit verfasserin aut Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes 2017 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. Primary familial brain calcification Elsevier Basal ganglia calcification Elsevier Hypoparathyroid Elsevier Fahr's disease Elsevier SLC20A2 Elsevier Tai, Xin You oth Schottlaender, Lucia oth Erro, Robert oth Balint, Bettina oth Bhatia, Kailash P. oth Enthalten in Elsevier Science Aral, Efecan ELSEVIER Parkinsonism & related disorders 2022 official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders Amsterdam [u.a.] (DE-627)ELV009218491 volume:37 year:2017 pages:1-10 extent:10 https://doi.org/10.1016/j.parkreldis.2016.12.024 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 37 2017 1-10 10 045F 610 |
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Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes |
| abstract |
There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. |
| abstractGer |
There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. |
| abstract_unstemmed |
There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called ‘Fahr's’ disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined. |
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Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes |
| url |
https://doi.org/10.1016/j.parkreldis.2016.12.024 |
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true |
| author2 |
Tai, Xin You Schottlaender, Lucia Erro, Robert Balint, Bettina Bhatia, Kailash P. |
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Tai, Xin You Schottlaender, Lucia Erro, Robert Balint, Bettina Bhatia, Kailash P. |
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ELV009218491 |
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| doi_str |
10.1016/j.parkreldis.2016.12.024 |
| up_date |
2024-07-06T19:15:15.779Z |
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1803858283887329280 |
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7.399728 |