Article
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Orphanet journal of rare diseases - 15 Mar 2013
Synofzik Matthis, Soehn Anne S, Gburek-Augustat Janina, Schicks Julia, Karle Kathrin N, Schüle Rebecca, Haack Tobias B, Schöning Martin, Biskup Saskia, Rudnik-Schöneborn Sabine, Senderek Jan, Hoffmann Karl-Titus, MacLeod Patrick, Schwarz Johannes, Bender Benjamin, Krüger Stefan, Kreuz Friedmar, Bauer Peter, Schöls Ludger
Abstract excerpt
BACKGROUND: Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), have been identified as a frequent cause of recessive early-onset ataxia around the world. Here we aimed to enlarge the spectrum of SACS mutations outside Quebec, to establish the pathogenicity of novel variants, and to expand the clinical and imaging phenotype. METHODS: Sequencing of SACS in 22 patients...
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