Recessively‐Inherited Adult‐Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene
Background Alexander disease (AxD) is an autosomal‐dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP) gene. Objectives The objective of this report is to characterize the clinical phenotype and identify the genetic mutation associated with adult‐on...
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| Published in | Movement disorders Vol. 35; no. 9; pp. 1662 - 1667 |
|---|---|
| Main Authors | , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Hoboken, USA
John Wiley & Sons, Inc
01.09.2020
Wiley Subscription Services, Inc |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0885-3185 1531-8257 1531-8257 |
| DOI | 10.1002/mds.28099 |
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| Abstract | Background
Alexander disease (AxD) is an autosomal‐dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP) gene.
Objectives
The objective of this report is to characterize the clinical phenotype and identify the genetic mutation associated with adult‐onset AxD.
Methods
A man presented with progressive unsteadiness since age 16. Magnetic resonance imaging findings revealed characteristic features of AxD. The GFAP gene was screened, and a candidate variant was functionally tested to evaluate causality.
Results
A homozygous c.197G > A (p.Arg66Gln) mutation was found in the proband, and his asymptomatic parents were heterozygous for the same mutation. This mutation affected GFAP solubility and promoted filament aggregation. The presence of the wild‐type protein rescued mutational effects, consistent with the recessive nature of this mutation.
Conclusions
This study is the first report of AxD caused by a homozygous mutation in GFAP. The clinical implication is while examining patients with characteristic features on suspicion of AxD, GFAP screening is recommended even without a supportive family history. © 2020 International Parkinson and Movement Disorder Society |
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| AbstractList | BackgroundAlexander disease (AxD) is an autosomal‐dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP) gene.ObjectivesThe objective of this report is to characterize the clinical phenotype and identify the genetic mutation associated with adult‐onset AxD.MethodsA man presented with progressive unsteadiness since age 16. Magnetic resonance imaging findings revealed characteristic features of AxD. The GFAP gene was screened, and a candidate variant was functionally tested to evaluate causality.ResultsA homozygous c.197G > A (p.Arg66Gln) mutation was found in the proband, and his asymptomatic parents were heterozygous for the same mutation. This mutation affected GFAP solubility and promoted filament aggregation. The presence of the wild‐type protein rescued mutational effects, consistent with the recessive nature of this mutation.ConclusionsThis study is the first report of AxD caused by a homozygous mutation in GFAP. The clinical implication is while examining patients with characteristic features on suspicion of AxD, GFAP screening is recommended even without a supportive family history. © 2020 International Parkinson and Movement Disorder Society Alexander disease (AxD) is an autosomal-dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP) gene. The objective of this report is to characterize the clinical phenotype and identify the genetic mutation associated with adult-onset AxD. A man presented with progressive unsteadiness since age 16. Magnetic resonance imaging findings revealed characteristic features of AxD. The GFAP gene was screened, and a candidate variant was functionally tested to evaluate causality. A homozygous c.197G > A (p.Arg66Gln) mutation was found in the proband, and his asymptomatic parents were heterozygous for the same mutation. This mutation affected GFAP solubility and promoted filament aggregation. The presence of the wild-type protein rescued mutational effects, consistent with the recessive nature of this mutation. This study is the first report of AxD caused by a homozygous mutation in GFAP. The clinical implication is while examining patients with characteristic features on suspicion of AxD, GFAP screening is recommended even without a supportive family history. © 2020 International Parkinson and Movement Disorder Society. Alexander disease (AxD) is an autosomal-dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP) gene.BACKGROUNDAlexander disease (AxD) is an autosomal-dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP) gene.The objective of this report is to characterize the clinical phenotype and identify the genetic mutation associated with adult-onset AxD.OBJECTIVESThe objective of this report is to characterize the clinical phenotype and identify the genetic mutation associated with adult-onset AxD.A man presented with progressive unsteadiness since age 16. Magnetic resonance imaging findings revealed characteristic features of AxD. The GFAP gene was screened, and a candidate variant was functionally tested to evaluate causality.METHODSA man presented with progressive unsteadiness since age 16. Magnetic resonance imaging findings revealed characteristic features of AxD. The GFAP gene was screened, and a candidate variant was functionally tested to evaluate causality.A homozygous c.197G > A (p.Arg66Gln) mutation was found in the proband, and his asymptomatic parents were heterozygous for the same mutation. This mutation affected GFAP solubility and promoted filament aggregation. The presence of the wild-type protein rescued mutational effects, consistent with the recessive nature of this mutation.RESULTSA homozygous c.197G > A (p.Arg66Gln) mutation was found in the proband, and his asymptomatic parents were heterozygous for the same mutation. This mutation affected GFAP solubility and promoted filament aggregation. The presence of the wild-type protein rescued mutational effects, consistent with the recessive nature of this mutation.This study is the first report of AxD caused by a homozygous mutation in GFAP. The clinical implication is while examining patients with characteristic features on suspicion of AxD, GFAP screening is recommended even without a supportive family history. © 2020 International Parkinson and Movement Disorder Society.CONCLUSIONSThis study is the first report of AxD caused by a homozygous mutation in GFAP. The clinical implication is while examining patients with characteristic features on suspicion of AxD, GFAP screening is recommended even without a supportive family history. © 2020 International Parkinson and Movement Disorder Society. Background Alexander disease (AxD) is an autosomal‐dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP) gene. Objectives The objective of this report is to characterize the clinical phenotype and identify the genetic mutation associated with adult‐onset AxD. Methods A man presented with progressive unsteadiness since age 16. Magnetic resonance imaging findings revealed characteristic features of AxD. The GFAP gene was screened, and a candidate variant was functionally tested to evaluate causality. Results A homozygous c.197G > A (p.Arg66Gln) mutation was found in the proband, and his asymptomatic parents were heterozygous for the same mutation. This mutation affected GFAP solubility and promoted filament aggregation. The presence of the wild‐type protein rescued mutational effects, consistent with the recessive nature of this mutation. Conclusions This study is the first report of AxD caused by a homozygous mutation in GFAP. The clinical implication is while examining patients with characteristic features on suspicion of AxD, GFAP screening is recommended even without a supportive family history. © 2020 International Parkinson and Movement Disorder Society |
| Author | Chang, Chiung‐Chih Peng, Cheng‐Huei Lan, Min‐Yu Fu, Mu‐Hui Lin, Ni‐Hsuan Wu, Kay, L.H. Chang, Yung‐Yee Yang, Ai‐Wen Perng, Ming‐Der Liu, Jia‐Shou |
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| Cites_doi | 10.1007/s00415-012-6540-4 10.1016/0896-6273(95)90238-4 10.1016/j.parkreldis.2013.10.014 10.1086/504411 10.1016/S0896-6273(00)80194-4 10.1093/brain/awn178 10.1001/archneurol.2011.1181 10.1186/1471-2377-10-21 10.1002/j.1460-2075.1995.tb07147.x 10.1016/j.jns.2004.07.008 10.1016/j.ceb.2015.02.004 10.1242/jcs.02339 10.1038/83679 10.7554/eLife.47789 10.1042/AN20130032 10.1006/jmbi.2000.3719 10.1093/brain/72.3.373 10.1212/01.wnl.0000198770.80743.37 10.1002/ana.20406 10.1073/pnas.93.13.6361 10.1001/archneur.60.9.1307 10.1212/WNL.0b013e3182309f72 10.1212/WNL.26.7.607 10.1371/journal.pone.0180694 10.1212/WNL.58.10.1494 |
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Alexander disease (AxD) is an autosomal‐dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP) gene.... Alexander disease (AxD) is an autosomal-dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP) gene. The... BackgroundAlexander disease (AxD) is an autosomal‐dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP)... Alexander disease (AxD) is an autosomal-dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP)... |
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| SubjectTerms | Adolescent Adult Alexander disease Alexander Disease - diagnostic imaging Alexander Disease - genetics Alexander's disease astrocyte GFAP Glial fibrillary acidic protein Glial Fibrillary Acidic Protein - genetics Homozygote Humans Leukodystrophy Magnetic resonance imaging Male Movement disorders Mutation Mutation - genetics Phenotype Phenotypes recessive mutation |
| Title | Recessively‐Inherited Adult‐Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene |
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