SCA4 ZFHX3

Ontology Lookup Service (OLS)

The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.

Zhongbo,Chen, Pilar,Alvarez Jerez, Claire,Anderson, Martin,Paucar, Jasmaine,Lee, Daniel,Nilsson, Hannah,Macpherson, Annarita,Scardamaglia, Kylie,Montgomery, John,Hardy, Andrew B,Singleton, Arianna,Tucci, Katherine D,Mathews, Ying-Hui,Fu, Martin,Engvall, José,Laffita-Mesa, Inger,Nennesmo, Anna,Wedell, Louis J,Ptáček, Cornelis,Blauwendraat, Emil K,Gustavsson, Per,Svenningsson, Mina,Ryten, Henry,Houlden

Movement disorders : official journal of the Movement Disorder Society · 2024-12-05

Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs.

Martin,Paucar, Daniel,Nilsson, Martin,Engvall, José,Laffita-Mesa, Cilla,Söderhäll, Mikael,Skorpil, Christer,Halldin, Patrik,Fazio, Kristina,Lagerstedt-Robinson, Göran,Solders, Maria,Angeria, Andrea,Varrone, Mårten,Risling, Hong,Jiao, Inger,Nennesmo, Anna,Wedell, Per,Svenningsson

Journal of internal medicine · 2024-07-07

Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease.

Joel,Wallenius, Efthymia,Kafantari, Emma,Jhaveri, Sorina,Gorcenco, Adam,Ameur, Christin,Karremo, Sigurd,Dobloug, Kristina,Karrman, Tom,de Koning, Andreea,Ilinca, Maria,Landqvist Waldö, Andreas,Arvidsson, Staffan,Persson, Elisabet,Englund, Hans,Ehrencrona, Andreas,Puschmann

American journal of human genetics · 2023-11-29

Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.

Zhongbo,Chen, Emil K,Gustavsson, Hannah,Macpherson, Claire,Anderson, Chris,Clarkson, Clarissa,Rocca, Eleanor,Self, Pilar,Alvarez Jerez, Annarita,Scardamaglia, David,Pellerin, Kylie,Montgomery, Jasmaine,Lee, Delia,Gagliardi, Huihui,Luo, John,Hardy, James,Polke, Andrew B,Singleton, Cornelis,Blauwendraat, Katherine D,Mathews, Arianna,Tucci, Ying-Hui,Fu, Henry,Houlden, Mina,Ryten, Louis J,Ptáček

Movement disorders : official journal of the Movement Disorder Society · 2024-01-10

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Nature reviews. Genetics · 2024-03-11

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

Hannes,Erdmann, Annalisa,Schaub, Morghan C,Lucas, Veronika,Scholz, Anna,Benet-Pages, Kerstin,Becker, Christine,Dineiger, Veronika,Mayer, Inga,van Buren, Eva,Breithausen, Karl,Akbari, Isabell,Cordts, Mayra,Sauer, Christine,Schneider, Rosanna,Krakowsky, Franziska,Schnabel, Konstanze,Dunker, Lena,Fabritius, Johannes,Gerb, Denis,Grabova, Ken,Möhwald, Marius,Näher, Karoline,Steinmetz, Franziska,Thiessen, Alexander,Jäck, Christiane,Schneider-Gold, Simone,Zittel, Christina,Petersen, Isolde,Schreyer, Larissa,Mämecke, Sibylle,Wilfling, Gilbert,Wunderlich, David,Brenner, Yorck,Hellenbroich, Kirsten,Muhle, Tessa,Huchtemann, Inga,Claus, Thomas,Klopstock, Michael,Strupp, Johannes,Levin, Günter,Höglinger, Doreen,Huppert, Sandra,Becker-Bense, Filipp,Filippopulos, Fabian,Kilpert, Elsa,Leitão, Sabine,Kaya, Christel,Depienne, Florian,Schöberl, Teresa,Neuhann, Elke,Holinski-Feder, Andreas,Zwergal, Angela,Abicht

Brain : a journal of neurology · 2025-09-03

Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.

,Handoko, Marlinda,Adham, Lisnawati,Rachmadi, Demak Lumban,Tobing, ,Asmarinah, ,Fadilah, Wei,Dai, Anne Wing Mui,Lee, Soehartati A,Gondhowiardjo

Scientific reports · 2025-07-01

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Wai Yan,Yau, Roisin,Sullivan, Emer,O'Connor, David,Pellerin, Michael H,Parkinson, Paola,Giunti, Marie-Josée,Dicaire, Matt C,Danzi, Stephan,Züchner, Bernard,Brais, Nicholas W,Wood, Henry,Houlden, Jana,Vandrovcova

Brain communications · 2025-05-17

Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients.

Paula,Saffie-Awad, Abraham,Moller, Kensuke,Daida, Pilar,Alvarez Jerez, Zhongbo,Chen, Zachary B,Anderson, Mariam,Isayan, Kimberly,Paquette, Sophia B,Gibson, Madison,Fulcher, Abigail,Miano-Burkhardt, Laksh,Malik, Breeana,Baker, Paige,Jarreau, Henry,Houlden, Mina,Ryten, Bida,Gu, Mark J P,Chaisson, Danny E,Miller, Pedro,Chaná-Cuevas, Cornelis,Blauwendraat, Andrew B,Singleton, Kimberley J,Billingsley

Movement disorders : official journal of the Movement Disorder Society · 2025-06-03

Identification of GGC Repeat Expansions in

Paula,Saffie-Awad, Abraham,Moller, Kensuke,Daida, Pilar Alvarez,Jerez, Zhongbo,Chen, Zachary B,Anderson, Mariam,Isayan, Kimberly,Paquette, Sophia B,Gibson, Madison,Fulcher, Abigail,Miano-Burkhardt, Laksh,Malik, Breeana,Baker, Paige,Jarreau, Henry,Houlden, Mina,Ryten, Bida,Gu, Mark Jp,Chaisson, Danny E,Miller, Pedro,Chaná-Cuevas, Cornelis,Blauwendraat, Andrew B,Singleton, Kimberley J,Billingsley

medRxiv : the preprint server for health sciences · 2025-03-19

Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severity.

Andreas,Dalski, Martje G,Pauly, Henrike,Hanssen, Johann,Hagenah, Yorck,Hellenbroich, Christian,Schmidt, Jassemien,Strohschehn, Malte,Spielmann, Christine,Zühlke, Norbert,Brüggemann

Journal of neurology · 2024-08-02

A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.

Karla P,Figueroa, Caspar,Gross, Elena,Buena-Atienza, Sharan,Paul, Mandi,Gandelman, Naseebullah,Kakar, Marc,Sturm, Nicolas,Casadei, Jakob,Admard, Joohyun,Park, Christine,Zühlke, Yorck,Hellenbroich, Jelena,Pozojevic, Saranya,Balachandran, Kristian,Händler, Simone,Zittel, Dagmar,Timmann, Friedrich,Erdlenbruch, Laura,Herrmann, Thomas,Feindt, Martin,Zenker, Thomas,Klopstock, Claudia,Dufke, Daniel R,Scoles, Arnulf,Koeppen, Malte,Spielmann, Olaf,Riess, Stephan,Ossowski, Tobias B,Haack, Stefan M,Pulst

Nature genetics · 2024-04-29

FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients.

Masaaki,Matsushima, Hiroaki,Yaguchi, Eriko,Koshimizu, Akihiko,Kudo, Shinichi,Shirai, Takeshi,Matsuoka, Shigehisa,Ura, Atsushi,Kawashima, Toshiyuki,Fukazawa, Satoko,Miyatake, Naomichi,Matsumoto, Ichiro,Yabe

Journal of neurology · 2024-03-12

Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.

Luiz Eduardo,Novis, Shahryar,Alavi, David,Pellerin, Marcus Vinicius,Della Coleta, Salmo,Raskin, Mariana,Spitz, Andrea,Cortese, Henry,Houlden, Helio Afonso,Teive

Parkinsonism & related disorders · 2023-12-20