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Acta Neuropathologica
Published in: Acta Neuropathologica 5/2005

01-11-2005 | Letter to the Editor

Is the retina affected in Huntington disease?

Authors: Elisabeth Petrasch-Parwez, Carsten Saft, Annegrit Schlichting, Jürgen Andrich, Markus Napirei, Larissa Arning, Stefan Wieczorek, Rolf Dermietzel, Jörg Thomas Epplen

Published in: Acta Neuropathologica | Issue 5/2005

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Excerpt

Huntington disease (HD) is an inherited neurodegenerative disorder characterized by progressive motor dysfunctions, cognitive impairments and personality changes. HD is caused by an expanded polyglutamine repeat encoded by a (CAG)n block in exon 1 within the IT15 gene encoding the protein huntingtin (htt). HD-affected brains show progressive striatal and cortical atrophy. Intranuclear inclusions and cytoplasmic aggregates are histopathological hallmarks of HD. …
Literature
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Helmlinger D, Yvert G, Picaud S, Merienne K, Sahel J, Mandel J-L, Devys D (2002) Progressive retinal degeneration and dysfunction in R6 Huntington’s disease mice. Hum Mol Genet 11:3351–3359CrossRefPubMed
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Michalik A, Martin JJ, Van Broeckhoven C (2004) Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur J Hum Gen 12:2–15CrossRef
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Paulus W, Schwarz G, Werner A, Lange H, Bayer A, Hofschuster M, Müller N, Zrenner E (1993) Impairment of retinal increment thresholds in Huntington’s disease. Ann Neurol 34:574–578CrossRefPubMed
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Petrasch-Parwez E, Habbes HW, Weickert S, Löbbecke-Schumacher M, Wieczorek S, Dermietzel R, Epplen JT (2004) Fine-structural analysis and connexin expression in a transgenic model of Huntington’s disease. J Comp Neurol 479:181–197CrossRefPubMed
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Metadata
Title
Is the retina affected in Huntington disease?
Authors
Elisabeth Petrasch-Parwez
Carsten Saft
Annegrit Schlichting
Jürgen Andrich
Markus Napirei
Larissa Arning
Stefan Wieczorek
Rolf Dermietzel
Jörg Thomas Epplen
Publication date
01-11-2005
Publisher
Springer-Verlag
Published in
Acta Neuropathologica / Issue 5/2005
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI
https://doi.org/10.1007/s00401-005-1092-7

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