Article
Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.
Brain : a journal of neurology - 5 Mar 2026
Erdmann Hannes, Schaub Annalisa, Lucas Morghan C, Scholz Veronika, Benet-Pagès Anna, Becker Kerstin, Dineiger Christine, Mayer Veronika, van Buren Inga, Breithausen Eva, Akbari Karl, Cordts Isabell, Sauer Mayra, Schneider Christine, Krakowsky Rosanna, Schnabel Franziska, Dunker Konstanze, Fabritius Lena, Gerb Johannes, Grabova Denis, Möhwald Ken, Näher Marius, Steinmetz Karoline, Thiessen Franziska, Jäck Alexander, Schneider-Gold Christiane, Zittel Simone, Petersen Christina, Schreyer Isolde, Mämecke Larissa, Wilfling Sibylle, Wunderlich Gilbert, Brenner David, Hellenbroich Yorck, Muhle Kirsten, Huchtemann Tessa, Claus Inga, Klopstock Thomas, Strupp Michael, Levin Johannes, Höglinger Günter U, Huppert Doreen, Becker-Bense Sandra, Filippopulos Filipp, Kilpert Fabian, Leitão Elsa, Kaya Sabine, Depienne Christel, Schöberl Florian, Neuhann Teresa, Holinski-Feder Elke, Zwergal Andreas, Abicht Angela
Abstract excerpt
Hereditary adult-onset ataxias are a heterogeneous group of phenotypically overlapping conditions, often caused by pathogenic expansions of short tandem repeats. Currently, 18 repeat disorders with a core phenotype of adult-onset ataxia are known. Diagnosis typically relies on sequential PCR-based methods, which are labour-intensive and lack precision. Long-read sequencing (LRS) has the potential to overcome...
Read the complete abstract on PubMed