Sacsin-related ataxia (ARSACS) : Expanding the genotype upstream from the gigantic exon

The authors describe a Japanese autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) patient with a compound heterozygous mutation (32627-32636delACACTGTTAC and 31760delT) in a new exon of the SACS gene. The new exons upstream of the gigantic one should be analyzed when a case is clini...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Neurology 2006-04, Vol.66 (7), p.1103-1104
Hauptverfasser:	OUYANG, Y, TAKIYAMA, Y, SAKOE, K, SHIMAZAKI, H, OGAWA, T, NAGANO, S, YAMAMOTO, Y, NAKANO, I
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age of Onset Ataxia - genetics Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA - blood DNA - genetics DNA - isolation & purification Dysarthria - genetics Exons Female Genotype Heat-Shock Proteins - genetics Humans Medical sciences Neurology Pneumology Tumors of the respiratory system and mediastinum
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	The authors describe a Japanese autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) patient with a compound heterozygous mutation (32627-32636delACACTGTTAC and 31760delT) in a new exon of the SACS gene. The new exons upstream of the gigantic one should be analyzed when a case is clinically compatible with ARSACS, even without any mutation in the gigantic exon.
ISSN:	0028-3878 1526-632X
DOI:	10.1212/01.wnl.0000204300.94261.ea