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Published in: Journal of Neurology 5/2011

01-05-2011 | Letter to the Editors

Late onset Alexander’s disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene

Authors: Stephan Schmidt, Mike P. Wattjes, Wanda M. Gerding, Marjo van der Knaap

Published in: Journal of Neurology | Issue 5/2011

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Excerpt

Sirs, …
Literature
1.
go back to reference Rodriguez D, Gauthier F, Bertini E et al (2001) Infantile Alexander disease: spectrum of GFAP mutations and genotype–phenotype correlation. Am J Hum Genet 69:1134–1140PubMedCrossRef Rodriguez D, Gauthier F, Bertini E et al (2001) Infantile Alexander disease: spectrum of GFAP mutations and genotype–phenotype correlation. Am J Hum Genet 69:1134–1140PubMedCrossRef
2.
go back to reference Li R, Johnson AB, Salomons G et al (2005) Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 57:310–326PubMedCrossRef Li R, Johnson AB, Salomons G et al (2005) Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 57:310–326PubMedCrossRef
3.
go back to reference Quinlan RA, Brenner M, Goldman JE, Messing A (2007) GFAP and its role in Alexander disease. Exp Cell Res 313:2077–2087PubMedCrossRef Quinlan RA, Brenner M, Goldman JE, Messing A (2007) GFAP and its role in Alexander disease. Exp Cell Res 313:2077–2087PubMedCrossRef
4.
go back to reference Pareyson D, Fancellu R, Mariotti C et al (2008) Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain 131:2321–2331PubMedCrossRef Pareyson D, Fancellu R, Mariotti C et al (2008) Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain 131:2321–2331PubMedCrossRef
5.
go back to reference Van der Knaap MS, Salomons GS, Li R et al (2005) Unusual variants of Alexander’s disease. Ann Neurol 57:327–338PubMedCrossRef Van der Knaap MS, Salomons GS, Li R et al (2005) Unusual variants of Alexander’s disease. Ann Neurol 57:327–338PubMedCrossRef
6.
go back to reference van der Knaap MS, Ramesh V, Schiffmann R et al (2006) Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. Neurology 66:494–498PubMedCrossRef van der Knaap MS, Ramesh V, Schiffmann R et al (2006) Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. Neurology 66:494–498PubMedCrossRef
7.
go back to reference Van der Knapp MS, Naidu S, Breiter SN et al (2001) Alexander disease: diagnosis with MR imaging. Am J Neuroradiol 22:541–552 Van der Knapp MS, Naidu S, Breiter SN et al (2001) Alexander disease: diagnosis with MR imaging. Am J Neuroradiol 22:541–552
8.
go back to reference Farina L, Pareyson D, Minati L et al (2008) Can MR imaging diagnose adult-onset Alexander disease? Am J Neuroradiol 29:1190–1196PubMedCrossRef Farina L, Pareyson D, Minati L et al (2008) Can MR imaging diagnose adult-onset Alexander disease? Am J Neuroradiol 29:1190–1196PubMedCrossRef
9.
go back to reference Sunyaev S, Ramensky V, Koch I, Lathe W 3rd, Kondrashov AS, Bork P (2001) Prediction of deleterious human alleles. Hum Mol Genet 10:591–597PubMedCrossRef Sunyaev S, Ramensky V, Koch I, Lathe W 3rd, Kondrashov AS, Bork P (2001) Prediction of deleterious human alleles. Hum Mol Genet 10:591–597PubMedCrossRef
10.
11.
go back to reference Abele M, Bürk K, Schöls L et al (2002) The aetiology of sporadic adult-onset ataxia. Brain 125:961–968PubMedCrossRef Abele M, Bürk K, Schöls L et al (2002) The aetiology of sporadic adult-onset ataxia. Brain 125:961–968PubMedCrossRef
12.
go back to reference Wardle M, Majounie E, Muzaimi MB et al (2009) The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study. J Neurol 256:343–348PubMedCrossRef Wardle M, Majounie E, Muzaimi MB et al (2009) The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study. J Neurol 256:343–348PubMedCrossRef
Metadata
Title
Late onset Alexander’s disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene
Authors
Stephan Schmidt
Mike P. Wattjes
Wanda M. Gerding
Marjo van der Knaap
Publication date
01-05-2011
Publisher
Springer-Verlag
Published in
Journal of Neurology / Issue 5/2011
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-010-5849-0

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