Spinocerebellar Ataxia Type 7 (SCA7): A Neurodegenerative Disorder With Neuronal Intranuclear Inclusions

Autosomal dominant cerebellar ataxia with progressive macular degeneration is caused by a CAG/glutamine repeat expansion in the SCA7 gene/protein. Neuronal intranuclear inclusions were detected in the brain of an early onset SCA7 case with the 1C2 antibody directed against an expanded polyglutamine...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human molecular genetics 1998-05, Vol.7 (5), p.913-918
Hauptverfasser:	Holmberg, Monica, Duyckaerts, Charles, Dürr, Alexandra, Cancel, Géraldine, Gourfinkel-An, Isabelle, Damier, Philippe, Faucheux, Baptiste, Trottier, Yvon, Hirsch, Etienne C., Agid, Yves, Brice, Alexis
Format:	Artikel
Sprache:	eng
Schlagworte:	Ataxin-7 Biological and medical sciences Brain - pathology Cell Nucleus - chemistry Cell Nucleus - pathology Child Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Glutamine - genetics Glutamine - metabolism Humans Immunohistochemistry Inclusion Bodies - chemistry Inclusion Bodies - pathology Life Sciences Male Medical sciences Nerve Tissue Proteins - genetics Neurology Neurons - chemistry Neurons - pathology Neurons and Cognition Neuropeptides - analysis Nuclear Proteins - analysis Spinocerebellar Degenerations - pathology
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!