Late-onset ataxia, may have episodic onset, downbeat nystagmus, vertigo, dysarthria, visual disturbances, and neuropathy^1,2. Involvement of the superior cerebellar peduncles is frequent and may aid in diagnostic efforts³. Cognitive impairment, including features of cerebellar cognitive-affective syndrome, is correlated with ataxia severity in one cohort, though higher rates may occur in other cerebellar ataxias and cognitive performance worsens with increasing ataxia severity rather than repeat length^4,5.

Prevalence

Intermediate expansions 1-2% of population, but non-GAA-pure without relation to ataxia⁶. Found in multiple ethnicities⁷; diagnosed patients in America, Brazil, Japan, Germany, Spain, Canada, France, Austria, Australia, Italy, Argentina, and Poland^6,8,9,10,11. Prevalence is population dependent, ranging from 1.83% to 61% of different ataxia cohorts, with specific enrichment in French-Canadian populations^12,13.

Age of Onset

Typical: 42-70; Range: 21-87^6,14.

HPO Terms

HP:0000651 Diplopia HP:0001260 Dysarthria HP:0001272 Cerebellar atrophy HP:0002066 Gait ataxia HP:0002070 Limb ataxia HP:0002174 Postural tremor HP:0002321 Vertigo HP:0007979 Gaze-evoked horizontal nystagmus HP:0010545 Downbeat nystagmus

Association

MendelianRisk

Locus

hg19chr13:102813924-102814076

hg38chr13:102161574-102161726

t2tchr13:101377549-101377792

Details

Higher repeat size is associated with earlier age of onset¹⁴. The 250-300 repeats range is linked to incomplete penetrance and >300 repeats with complete penetrance in some studies and resources^6,15,16. However, our thresholds are taken from suggestions made by Mohren et al upon evaluation of 169 cases and 802 controls; the authors propose lower thresholds based on pathogenic cases of shorter pure repeats¹⁶. Additionally, this study suggests that benign motifs may disrupt the formation of secondary structures in DNA/RNA, leading to reduced pathogenicity. The effects of interruptions on penetrance and onset have been demonstrated in patients, with uninterrupted expansions apparently necessary for disease¹⁷. Interruptions of GAG, GAAGGA, GAAGAAAGAA, GAAAAGAAGAAGGAAGAAGGAA, GAAAAGAAGAAGGAA, and GCAGAAGAAGAAGAA have been reported¹⁸. Variation in flanking regions appears to correlate with repeat size^16,19. Intermediate alleles may increase ataxia susceptibility in combination with other factors or be associated with a phenotypic spectrum (multiple system atrophy)^16,20. A complex (TTC/TGC) ≥300 repeat expansion has been identified as a risk factor for Parkinson's disease^21,22. Expansions can sometimes present as apparently sporadic adult-onset ataxia despite autosomal dominant inheritance²³. Palatal tremor has been reported in two unrelated patients²⁴. In one study, 180 GAA repeats on the shorter allele were associated with faster progression, including in generally unaffected domains such as speech, without affecting age of onset²⁵.

Mechanism

LoF

Reduced transcript 2¹².

Detection

Short-read genome and exome sequencing are reported to be inaccurate in detecting these expansions⁶. Long-range PCR and bidirectional RP-PCR have been used for detection, while long-read sequencing has determined repeat structure and purity^6,12. Optical genome mapping detects full expansions (>200 repeats) but not premutation range alleles^26,27.

Year

2023²⁸

Location in Gene

Intron 1

Gene Strand

Alleles

Ref. Motif

GAA

Ranges

Benign (ref.)

AGG, CAG

Benign (gene)

CCT, CTG

Pathogenic (ref.)

AAG

Pathogen. (gene)

CTT

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

AGG, AGAAGG, AAAGAAGAAG, AAGAAAAGAAGAAGGAAGAAGG, AAGAAAAGAAGAAGG, AAGAAGAAGAAGCAG

Interrup. (gene)

CCT, CCTTCT, CTTCTTCTTT, CCTTCTTCCTTCTTCTTTTCTT, CCTTCTTCTTTTCTT, CTGCTTCTTCTTCTT

References

Direct supporting references for info on this page.

Repeat expansion disorders.

Zhongbo,Chen, Huw R,Morris, James,Polke, Nicholas W,Wood, Sonia,Gandhi, Mina,Ryten, Henry,Houlden, Arianna,Tucci

Practical neurology · 2025-05-15

pmid:39349043

Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion.

E,Muñoz, M,De la Cruz-Puebla, D,Pellerin, C,Painous, M I,Álvarez-Mora, M J,Dicaire, L,Rodríguez-Revenga, M C,Danzi, S,Zuchner, B,Brais

Neurologia · 2026-05-01

pmid:42044943

Involvement of the Superior Cerebellar Peduncles in GAA-

Shihan,Chen, Catherine,Ashton, Rawan,Sakalla, Guillemette,Clement, Sophie,Planel, Céline,Bonnet, Phillipa J,Lamont, Karthik,Kulanthaivelu, Atchayaram,Nalini, Henry,Houlden, Antoine,Duquette, Marie-Josée,Dicaire, Pablo,Iruzubieta Agudo, Javier,Ruiz-Martinez, Enrique,Marco De Lucas, Rodrigo,Sutil Berjon, Jon,Infante Ceberio, Elisabetta,Indelicato, Sylvia M,Boesch, Matthis,Synofzik, Benjamin,Bender, Matt C,Danzi, Stephan,Zuchner, David,Pellerin, Bernard,Brais, Mathilde,Renaud, Roberta,La Piana

Neurology. Genetics · 2025-02-21

pmid:39996128

Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.

Ronak,Rashedi, Franca,Peemöller, Hannes,Erdmann, Mathias,Gelderblom, Ute,Hidding, Christos,Ganos, Robert,Chen, Angela,Abicht, Simone,Zittel

Cerebellum (London, England) · 2026-06-29

pmid:42371259

Cerebellar cognitive affective syndrome (CCAS) and [18F]-FDG PET findings in spinocerebellar ataxia type SCA27B.

Laurine,Cros, David,Pellerin, Thomas,Palpacuer, Salomé,Puisieux, Solène,Frismand, Armand,Hocquel, Marion,Wandzel, Virginie,Roth, Carine,Pourié, Bernard,Brais, Céline,Bonnet, Mylène,Meyer, Céline,Dillier, Amory,Jardel, Lucie,Hopes, Antoine,Verger, Mathilde,Renaud, Guillemette,Clément

Journal of neurology · 2026-07-21

pmid:42481725

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genereviews:NBK599589

Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.

Elisa,Vegezzi, Hiroyuki,Ishiura, D Cristopher,Bragg, David,Pellerin, Francesca,Magrinelli, Riccardo,Currò, Stefano,Facchini, Arianna,Tucci, John,Hardy, Nutan,Sharma, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Mary M,Reilly, Shoji,Tsuji, Henry,Houlden, Andrea,Cortese

The Lancet. Neurology · 2024-07-01

pmid:38876750

Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.

Sara,Satolli, Salvatore,Rossi, Elisa,Vegezzi, David,Pellerin, Maria Laura,Manca, Melissa,Barghigiani, Carla,Battisti, Giusi,Bilancieri, Giorgia,Bruno, Elena,Capacci, Carlo,Casali, Roberto,Ceravolo, Sirio,Cocozza, Stefano,Cotti Piccinelli, Chiara,Criscuolo, Matt C,Danzi, Rosa,De Micco, Giuseppe,De Michele, Marie-Josée,Dicaire, Grazia Maria Igea,Falcone, Roberto,Fancellu, Yasmine,Ferchichi, Camilla,Ferrari, Alessandro,Filla, Nicola,Fini, Alessandra,Govoni, Filomena,Lo Vecchio, Alessandro,Malandrini, Andrea,Mignarri, Olimpia,Musumeci, Claudia,Nesti, Sabina,Pappatà, Maria Teresa,Pellecchia, Alessia,Perna, Antonio,Petrucci, Maria Grazia,Pomponi, Roberta,Ravenni, Ivana,Ricca, Alessandra,Rufa, Elisabetta,Tabolacci, Alessandra,Tessa, Alessandro,Tessitore, Stephan,Zuchner, Gabriella,Silvestri, Andrea,Cortese, Bernard,Brais, Filippo M,Santorelli

Journal of neurology · 2024-06-17

pmid:38886208

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.

Haloom,Rafehi, Justin,Read, David J,Szmulewicz, Kayli C,Davies, Penny,Snell, Liam G,Fearnley, Liam,Scott, Mirja,Thomsen, Greta,Gillies, Kate,Pope, Mark F,Bennett, Jacob E,Munro, Kathie J,Ngo, Luke,Chen, Mathew J,Wallis, Ernest G,Butler, Kishore R,Kumar, Kathy Hc,Wu, Susan E,Tomlinson, Stephen,Tisch, Abhishek,Malhotra, Matthew,Lee-Archer, Egor,Dolzhenko, Michael A,Eberle, Leslie J,Roberts, Brent L,Fogel, Norbert,Brüggemann, Katja,Lohmann, Martin B,Delatycki, Melanie,Bahlo, Paul J,Lockhart

American journal of human genetics · 2023-06-01

pmid:37267898

Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed Cerebellar Ataxia - A Preliminary Study.

Marta,Matlawska, Karolina,Ziora-Jakutowicz, Marie-Josee,Dicaire, Joanna,Pera, David,Pellerin, Bernard,Brais, Pablo,Iruzubieta, Ewelina,Elert-Dobkowska, Anna,Sulek

Cerebellum (London, England) · 2026-05-07

pmid:42096001

FGF14 (GAA) repeat expansion-associated Ataxia (SCA27B): Expanding the clinical and diagnostic spectrum from the first genetically confirmed case in Argentina.

E M,Gatto, N,Gonzalez Rojas, M E,Cesarini, F G,Franco, L,Schottlaender, P,Iruzubieta, M J,Dicaire, D,Pellerin, B,Brais

Parkinsonism & related disorders · 2026-09-01

pmid:42710251

Deep Intronic

David,Pellerin, Matt C,Danzi, Carlo,Wilke, Mathilde,Renaud, Sarah,Fazal, Marie-Josée,Dicaire, Carolin K,Scriba, Catherine,Ashton, Christopher,Yanick, Danique,Beijer, Adriana,Rebelo, Clarissa,Rocca, Zane,Jaunmuktane, Joshua A,Sonnen, Roxanne,Larivière, David,Genís, Laura,Molina Porcel, Karine,Choquet, Rawan,Sakalla, Sylvie,Provost, Rebecca,Robertson, Xavier,Allard-Chamard, Martine,Tétreault, Sarah J,Reiling, Sara,Nagy, Vikas,Nishadham, Meera,Purushottam, Seena,Vengalil, Mainak,Bardhan, Atchayaram,Nalini, Zhongbo,Chen, Jean,Mathieu, Rami,Massie, Colin H,Chalk, Anne-Louise,Lafontaine, François,Evoy, Marie-France,Rioux, Jiannis,Ragoussis, Kym M,Boycott, Marie-Pierre,Dubé, Antoine,Duquette, Henry,Houlden, Gianina,Ravenscroft, Nigel G,Laing, Phillipa J,Lamont, Mario A,Saporta, Rebecca,Schüle, Ludger,Schöls, Roberta,La Piana, Matthis,Synofzik, Stephan,Zuchner, Bernard,Brais

The New England journal of medicine · 2022-12-14

pmid:36516086

Challenges in the diagnosis of spinocerebellar ATAXIA 27B.

Núria Caballol,Pons, Alejandro Peral,Quirós, Anna,Planas-Ballvé, Paula Lombardo,Del Toro, Imma Hernan,Sendra, Asunción Ávila,Rivera

Journal of the neurological sciences · 2026-04-30

pmid:42090775

Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).

Widad,Abou Chaar, Anirudh N,Eranki, Hannah A,Stevens, Sonya L,Watson, Darice Y,Wong, Veronica S,Avila, Megan,Delfeld, Alexander J,Gary, Sanjukta,Tawde, Malia,Triebold, Marcello,Cherchi, Tao,Xie, Paul J,Lockhart, Melanie,Bahlo, David,Pellerin, Marie-Josée,Dicaire, Matt,Danzi, Stephan,Zuchner, Bernard C,Brais, Susan,Perlman, Margit,Burmeister, Henry,Paulson, Sharan,Srinivasan, Lawrence,Schut, Matthew,Bower, Khalaf,Bushara, Chuanhong,Liao, Vikram G,Shakkottai, John,Collins, H Brent,Clark, Soma,Das, Brent L,Fogel, Christopher M,Gomez

Annals of neurology · 2024-09-12

pmid:39263992

Intronic

David,Pellerin, Carlo,Wilke, Andreas,Traschütz, Sara,Nagy, Riccardo,Currò, Marie-Josée,Dicaire, Hector,Garcia-Moreno, Mathieu,Anheim, Thomas,Wirth, Jennifer,Faber, Dagmar,Timmann, Christel,Depienne, Dan,Rujescu, José,Gazulla, Mary M,Reilly, Paola,Giunti, Bernard,Brais, Henry,Houlden, Ludger,Schöls, Michael,Strupp, Andrea,Cortese, Matthis,Synofzik

Journal of neurology, neurosurgery, and psychiatry · 2024-01-11

pmid:37399286

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

Lars,Mohren, Friedrich,Erdlenbruch, Elsa,Leitão, Fabian,Kilpert, G Sebastian,Hönes, Sabine,Kaya, Christopher,Schröder, Andreas,Thieme, Marc,Sturm, Joohyun,Park, Agatha,Schlüter, Montserrat,Ruiz, Moisés,Morales de la Prida, Carlos,Casasnovas, Kerstin,Becker, Ulla,Roggenbuck, Sonali,Pechlivanis, Frank J,Kaiser, Matthis,Synofzik, Thomas,Wirth, Mathieu,Anheim, Tobias B,Haack, Paul J,Lockhart, Karl-Heinz,Jöckel, Aurora,Pujol, Stephan,Klebe, Dagmar,Timmann, Christel,Depienne

Nature communications · 2024-09-03

pmid:39227614

Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.

Laura Ivete,Rudaks, Igor,Stevanovski, Dennis,Yeow, Andre L M,Reis, Sanjog R,Chintalaphani, Pak Leng,Cheong, Hasindu,Gamaarachchi, Lisa,Worgan, Kate,Ahmad, Michael,Hayes, Andrew,Hannaford, Samuel,Kim, Victor S C,Fung, Gabor M,Halmagyi, Andrew,Martin, David,Manser, Michel,Tchan, Karl,Ng, Marina L,Kennerson, Ira W,Deveson, Kishore Raj,Kumar

Annals of clinical and translational neurology · 2025-02-25

pmid:40007153

FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?

Joshua,Laß, Mirja,Thomsen, Max,Borsche, Theresa,Lüth, Julia C,Prietzsche, Susen,Schaake, Andona,Milovanović, Hannah,Macpherson, Emil K,Gustavsson, Paula,Saffie Awad, Nataša,Dragašević-Mišković, Björn-Hergen,Laabs, Inke R,König, Ana,Westenberger, Christopher E,Pearson, Norbert,Brüggemann, Christine,Klein, Joanne,Trinh

Brain : a journal of neurology · 2025-11-04

pmid:40379261

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

David,Pellerin, Giulia F,Del Gobbo, Madeline,Couse, Egor,Dolzhenko, Sathiji K,Nageshwaran, Warren A,Cheung, Isaac R L,Xu, Marie-Josée,Dicaire, Guinevere,Spurdens, Gabriel,Matos-Rodrigues, Igor,Stevanovski, Carolin K,Scriba, Adriana,Rebelo, Virginie,Roth, Marion,Wandzel, Céline,Bonnet, Catherine,Ashton, Aman,Agarwal, Cyril,Peter, Dan,Hasson, Nadejda M,Tsankova, Ken,Dewar, Phillipa J,Lamont, Nigel G,Laing, Mathilde,Renaud, Henry,Houlden, Matthis,Synofzik, Karen,Usdin, Andre,Nussenzweig, Marek,Napierala, Zhao,Chen, Hong,Jiang, Ira W,Deveson, Gianina,Ravenscroft, Schahram,Akbarian, Michael A,Eberle, Kym M,Boycott, Tomi,Pastinen, Bernard,Brais, Stephan,Zuchner, Matt C,Danzi

Nature genetics · 2024-06-27

pmid:38937606

Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population.

Toshiyuki,Kakumoto, Kenta,Orimo, Takashi,Matsukawa, Jun,Mitsui, Tomohiko,Ishihara, Osamu,Onodera, Yuta,Suzuki, Shinichi,Morishita, Tatsushi,Toda, Shoji,Tsuji

European journal of human genetics : EJHG · 2024-11-27

pmid:39604554

Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.

Fulya,Akçimen, Kensuke,Daida, Lara M,Lange, Abraham,Moller, Abigail,Miano-Burkhardt, Laksh,Malik, Kimberly,Paquette, Pilar,Alvarez Jerez, Jackson,Mingle, Breeana,Baker, Melissa,Meredith, Cedric,Kouam, Paige,Jarreau, Androo,Markham, Jessica,Anderson, Miten,Jain, Mark,Chaisson, Mark,Cookson, Bradford,Casey, Hirotaka,Iwaki, Sara,Bandres-Ciga, Paula,Saffie-Awad, Mike A,Nalls, Zih-Hua,Fang, Andrew B,Singleton, Cornelis,Blauwendraat, Kimberley J,Billingsley

Brain : a journal of neurology · 2026-05-05

pmid:41327893

A Complex FGF14 (TTC)/(TGC) Repeat Expansion in Parkinson's Disease.

Xiaosheng,Zheng, Zhidong,Cen, Xinhui,Chen, Fan,Zhang, Chenxin,Ying, Nan,Jin, Peng,Liu, Yilin,Chen, Haotian,Wang, Jiaxiang,Li, Joanne,Trinh, Joshua,Laß, David,Pellerin, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Shen-Yang,Lim, Ai Huey,Tan, Azlina,Ahmad-Annuar, Dehao,Yang, Lebo,Wang, Zhiru,Lin, Fei,Xie, Bo,Wang, Sheng,Wu, Zhiyuan,Ouyang, Piu,Chan, Shen,Hu, Christine,Klein, Hou-Feng,Zheng, Chaodong,Wang, Wei,Luo

Movement disorders : official journal of the Movement Disorder Society · 2025-11-24

pmid:41277530

GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.

Eva-Maria,Kraus, Johannes,Lenz, Pauline,Ploettner, Patricia,Duffek, Jost-Julian,Rumpf, Rami Abou,Jamra, John,Wiedenhoeft, Denny,Popp

Clinical genetics · 2026-05-28

pmid:42204984

Characteristics of a Cohort of Individuals With SCA27B Associated With Repeat Expansions in

Sarah C,Anderson, Shilpan G,Patel, Miriam,Rodrigues, Marco,Mancuso-Marcello, Mark,Simpson

Neurology. Genetics · 2026-09-01

pmid:42699715

Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients.

Andreas,Traschütz, Ralf-Dieter,Hilgers, Friedrich,Erdlenbruch, Christel,Depienne, Thomas,Wirth, Clarisse,Delvallée, Astrid,Nümann, Catherine,Ashton, David,Pellerin, Elisabetta,Indelicato, Felix,Heindl, Mathilde,Renaud, Max,Borsche, Marcus,Grobe-Einsler, Jennifer,Faber, Thomas,Klockgether, Ludger,Schöls, Bernard,Brais, Mathieu,Anheim, Dagmar,Timmann, Matthis,Synofzik

EBioMedicine · 2026-08-15

pmid:42603514

Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders.

Mehmet Burak,Mutlu, Özge Beyza Gündoğdu,Öğütlü, Özlem,Öz, Fahrettin,Duymuş, Serhat,Seyhan, Ayşe Gül Bayrak,Tokaç, Esad,Tezcan, Hakan,Öğütlü, Fatma,Demiryılmaz, Nurcan,Silahtarlıoğlu, Kader,Bilgil, Sümeyye,Elma, Murat,Erdoğan, Hakan,Gümüş, Sefer,Kumandaş, Fethiye,Kılıçaslan

Human mutation · 2026-06-11

pmid:42293335

Utility of Optical Genome Mapping in Repeat Disorders.

Mehmet Burak,Mutlu, Taner,Karakaya, Hamide Betül Gerik,Çelebi, Fahrettin,Duymuş, Serhat,Seyhan, Sanem,Yılmaz, Uluç,Yiş, Tahir,Atik, Mehmet Fatih,Yetkin, Hakan,Gümüş

Clinical genetics · 2024-10-22

pmid:39435674

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.

American journal of human genetics · 2022-12-08

pmid:36493768

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

FGF14 (GAA) repeat expansion-associated Ataxia (SCA27B): Expanding the clinical and diagnostic spectrum from the first genetically confirmed case in Argentina.

E M,Gatto, N,Gonzalez Rojas, M E,Cesarini, F G,Franco, L,Schottlaender, P,Iruzubieta, M J,Dicaire, D,Pellerin, B,Brais

Parkinsonism & related disorders · 2026-09-01

pmid:42710251

Characteristics of a Cohort of Individuals With SCA27B Associated With Repeat Expansions in

Sarah C,Anderson, Shilpan G,Patel, Miriam,Rodrigues, Marco,Mancuso-Marcello, Mark,Simpson

Neurology. Genetics · 2026-09-01

pmid:42699715

Optimized Cas9-Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders.

Seungbok,Lee, Chanju,Jung, Minjeong,Kim, Narae,Kim, Gue-Ho,Hwang, Soon-Tae,Lee, Kon,Chu, Sang Kun,Lee, Han-Joon,Kim, Jong-Hee,Chae, Sangsu,Bae, Jangsup,Moon

Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026-08-29

pmid:42667167

Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients.

EBioMedicine · 2026-08-15

pmid:42603514

Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B).

David,Pellerin, Adriana,Rebelo, Mohammad Faraz,Zafeer, Meghan,Ditmeyer, Pablo,Iruzubieta, Liedewei,Van de Vondel, Yasmani,Rodriguez, Elizabeth H,Jacobs, Marie-Josée,Dicaire, Matt C,Danzi, Marek,Napierala, Mario,Saporta, Bernard,Brais, Stephan,Zuchner

Stem cell research · 2026-06-30

pmid:42391783

Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS.

David,Pellerin, Felix,Heindl, Andreas,Traschütz, Pablo,Iruzubieta, Marie-Josée,Dicaire, Stephan,Zuchner, Annette M,Hartmann, Dan,Rujescu, Henry,Houlden, Bernard,Brais, Michael,Strupp, Matthis,Synofzik

Journal of neurology · 2026-05-25

pmid:42178418

SCA27B in Brazil: frequency, phenotype and genotype-phenotype correlations.

Amanda,de Jesus Araujo Dias, Cynthia,Silveira, Adriana Mendes,Vinagre, Luciana Cardoso,Bonadia, Nadson Bruno Serra,Santos, Thiago Junqueira R,Rezende, Luiza Alves,Corazza, José Luiz,Pedroso, Orlando Graziani P,Barsottini, Fabricio Diniz,de Lima, Marcondes C,França Junior

Journal of neurology · 2026-05-21

pmid:42168446

Expert commentary for "Episodic cerebellar ataxia mimicking stroke - diagnostic and therapeutic lessons from SCA27B".

Pablo,Iruzubieta, Bernard,Brais, David,Pellerin

Parkinsonism & related disorders · 2026-04-23

pmid:42055934

Pearls & Oy-sters: SCA27B as an Elusive Genetic Cause of Episodic Neurologic Symptoms in Later Adulthood.

Jacob,Yomtoob, Lucy,Morse, Ignacio Juan,Keller Sarmiento, Lisa,Kinsley, Christopher M,Gomez, Puneet,Opal, Niccolò Emanuele,Mencacci

Neurology · 2026-02-16

pmid:41698164

Locus SCA27B FGF14

Disease

Locus

Alleles

References

Additional Literature