Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia

M. Leonor Bustamante; Marcelo Miranda; David Pellerin; Mariana Barreto; Claudia Silva; Ana C. Miranda; Benjamín Pizarro-Galleguillos; Octavio Azaldegui; Valentina Besa; Francisca Canals; María Eugenia Contreras; Marie Josée Dicaire; Natalia Dominik; Pablo Iruzubieta; Matt C. Danzi; Stephan Zuchner; Henry Houlden; Bernard Brais; Ramiro Fernández; José Fuentes Manríquez; Javiera Gajardo; Javiera León; Camila Melo; Daniela Muñoz-Chesta; Ximena Pizarro; Pablo Rodríguez; Philippe Salles; Camilo Sepúlveda; José Miguel Tirapegui; Daniel Valenzuela; Felipe Vial; Patricia Orellana Pineda; Cristian Garrido; Gonzalo Miranda

doi:10.1007/s12311-025-01937-5

Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia

M. Leonor Bustamante^*
, Marcelo Miranda
, David Pellerin
, Mariana Barreto
, Claudia Silva
, Ana C. Miranda
, Benjamín Pizarro-Galleguillos
, Octavio Azaldegui
, Valentina Besa
, Francisca Canals
, María Eugenia Contreras
, Marie Josée Dicaire
, Natalia Dominik
, Pablo Iruzubieta
, Matt C. Danzi
, Stephan Zuchner
, Henry Houlden
, Bernard Brais
, Ramiro Fernández
, José Fuentes Manríquez

Javiera Gajardo, Javiera León, Camila Melo, Daniela Muñoz-Chesta, Ximena Pizarro, Pablo Rodríguez, Philippe Salles, Camilo Sepúlveda, José Miguel Tirapegui, Daniel Valenzuela, Felipe Vial, Patricia Orellana Pineda, Cristian Garrido, Gonzalo Miranda

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

The diagnosis of hereditary ataxias caused by repeat expansions continue to present unique methodological challenges, especially for developing countries where genomic medicine services are not well established. The purpose of this work is to present a cohort of patients who presented with adult-onset ataxia of suspected genetic etiology, but had remained undiagnosed until now. They were analyzed for a set of repeat expansions including the genes causing the more recently identified types, SCA27BandRFC1-related CANVAS. Patients with a possible diagnosis of hereditary cerebellar ataxia with adult onset underwent genetic testing to detect a set of repeat expansions known to cause autosomal dominant ataxia. In selected cases, a complete vestibular function evaluation and brain magnetic resonance imaging was acquired. In 17 of the 56 studied cases (including 11 of 43 index cases) we established a genetic diagnosis, which demonstrates that this is a promising approach to adult-onset ataxias in a population that remains underrepresented in worldwide genomic studies. We identified 9 individuals with SCA27B and 7 with CANVAS, highlighting the epidemiological relevance of these newly recognized etiologies, an information useful for planning the allocation of resources towards improving the access to genomic medicine in in our region.

Original language	English
Article number	3
Journal	Cerebellum
Volume	25
Issue number	1
DOIs	https://doi.org/10.1007/s12311-025-01937-5
State	Published - Feb 2026

Bibliographical note

Publisher Copyright:
© The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2025.

Keywords

CANVAS syndrome
Latin american population
Neurogenetics
Repeat expansions
SCA27B

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10.1007/s12311-025-01937-5

Cite this

Bustamante, M. L., Miranda, M., Pellerin, D., Barreto, M., Silva, C., Miranda, A. C., Pizarro-Galleguillos, B., Azaldegui, O., Besa, V., Canals, F., Contreras, M. E., Dicaire, M. J., Dominik, N., Iruzubieta, P., Danzi, M. C., Zuchner, S., Houlden, H., Brais, B., Fernández, R., ... Miranda, G. (2026). Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia. Cerebellum, 25(1), Article 3. https://doi.org/10.1007/s12311-025-01937-5

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abstract = "The diagnosis of hereditary ataxias caused by repeat expansions continue to present unique methodological challenges, especially for developing countries where genomic medicine services are not well established. The purpose of this work is to present a cohort of patients who presented with adult-onset ataxia of suspected genetic etiology, but had remained undiagnosed until now. They were analyzed for a set of repeat expansions including the genes causing the more recently identified types, SCA27BandRFC1-related CANVAS. Patients with a possible diagnosis of hereditary cerebellar ataxia with adult onset underwent genetic testing to detect a set of repeat expansions known to cause autosomal dominant ataxia. In selected cases, a complete vestibular function evaluation and brain magnetic resonance imaging was acquired. In 17 of the 56 studied cases (including 11 of 43 index cases) we established a genetic diagnosis, which demonstrates that this is a promising approach to adult-onset ataxias in a population that remains underrepresented in worldwide genomic studies. We identified 9 individuals with SCA27B and 7 with CANVAS, highlighting the epidemiological relevance of these newly recognized etiologies, an information useful for planning the allocation of resources towards improving the access to genomic medicine in in our region.",

keywords = "CANVAS syndrome, Latin american population, Neurogenetics, Repeat expansions, SCA27B",

author = "Bustamante, \{M. Leonor\} and Marcelo Miranda and David Pellerin and Mariana Barreto and Claudia Silva and Miranda, \{Ana C.\} and Benjam{\'i}n Pizarro-Galleguillos and Octavio Azaldegui and Valentina Besa and Francisca Canals and Contreras, \{Mar{\'i}a Eugenia\} and Dicaire, \{Marie Jos{\'e}e\} and Natalia Dominik and Pablo Iruzubieta and Danzi, \{Matt C.\} and Stephan Zuchner and Henry Houlden and Bernard Brais and Ramiro Fern{\'a}ndez and \{Fuentes Manr{\'i}quez\}, Jos{\'e} and Javiera Gajardo and Javiera Le{\'o}n and Camila Melo and Daniela Mu{\~n}oz-Chesta and Ximena Pizarro and Pablo Rodr{\'i}guez and Philippe Salles and Camilo Sep{\'u}lveda and Tirapegui, \{Jos{\'e} Miguel\} and Daniel Valenzuela and Felipe Vial and \{Orellana Pineda\}, Patricia and Cristian Garrido and Gonzalo Miranda",

note = "Publisher Copyright: {\textcopyright} The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2025.",

year = "2026",

month = feb,

doi = "10.1007/s12311-025-01937-5",

language = "English",

volume = "25",

journal = "Cerebellum",

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Bustamante, ML, Miranda, M, Pellerin, D, Barreto, M, Silva, C, Miranda, AC, Pizarro-Galleguillos, B, Azaldegui, O, Besa, V, Canals, F, Contreras, ME, Dicaire, MJ, Dominik, N, Iruzubieta, P, Danzi, MC, Zuchner, S, Houlden, H, Brais, B, Fernández, R, Fuentes Manríquez, J, Gajardo, J, León, J, Melo, C, Muñoz-Chesta, D, Pizarro, X, Rodríguez, P, Salles, P, Sepúlveda, C, Tirapegui, JM, Valenzuela, D, Vial, F, Orellana Pineda, P, Garrido, C & Miranda, G 2026, 'Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia', Cerebellum, vol. 25, no. 1, 3. https://doi.org/10.1007/s12311-025-01937-5

TY - JOUR

T1 - Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia

AU - Bustamante, M. Leonor

AU - Miranda, Marcelo

AU - Pellerin, David

AU - Barreto, Mariana

AU - Silva, Claudia

AU - Miranda, Ana C.

AU - Pizarro-Galleguillos, Benjamín

AU - Azaldegui, Octavio

AU - Besa, Valentina

AU - Canals, Francisca

AU - Contreras, María Eugenia

AU - Dicaire, Marie Josée

AU - Dominik, Natalia

AU - Iruzubieta, Pablo

AU - Danzi, Matt C.

AU - Zuchner, Stephan

AU - Houlden, Henry

AU - Brais, Bernard

AU - Fernández, Ramiro

AU - Fuentes Manríquez, José

AU - Gajardo, Javiera

AU - León, Javiera

AU - Melo, Camila

AU - Muñoz-Chesta, Daniela

AU - Pizarro, Ximena

AU - Rodríguez, Pablo

AU - Salles, Philippe

AU - Sepúlveda, Camilo

AU - Tirapegui, José Miguel

AU - Valenzuela, Daniel

AU - Vial, Felipe

AU - Orellana Pineda, Patricia

AU - Garrido, Cristian

AU - Miranda, Gonzalo

N1 - Publisher Copyright: © The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2025.

PY - 2026/2

Y1 - 2026/2

N2 - The diagnosis of hereditary ataxias caused by repeat expansions continue to present unique methodological challenges, especially for developing countries where genomic medicine services are not well established. The purpose of this work is to present a cohort of patients who presented with adult-onset ataxia of suspected genetic etiology, but had remained undiagnosed until now. They were analyzed for a set of repeat expansions including the genes causing the more recently identified types, SCA27BandRFC1-related CANVAS. Patients with a possible diagnosis of hereditary cerebellar ataxia with adult onset underwent genetic testing to detect a set of repeat expansions known to cause autosomal dominant ataxia. In selected cases, a complete vestibular function evaluation and brain magnetic resonance imaging was acquired. In 17 of the 56 studied cases (including 11 of 43 index cases) we established a genetic diagnosis, which demonstrates that this is a promising approach to adult-onset ataxias in a population that remains underrepresented in worldwide genomic studies. We identified 9 individuals with SCA27B and 7 with CANVAS, highlighting the epidemiological relevance of these newly recognized etiologies, an information useful for planning the allocation of resources towards improving the access to genomic medicine in in our region.

AB - The diagnosis of hereditary ataxias caused by repeat expansions continue to present unique methodological challenges, especially for developing countries where genomic medicine services are not well established. The purpose of this work is to present a cohort of patients who presented with adult-onset ataxia of suspected genetic etiology, but had remained undiagnosed until now. They were analyzed for a set of repeat expansions including the genes causing the more recently identified types, SCA27BandRFC1-related CANVAS. Patients with a possible diagnosis of hereditary cerebellar ataxia with adult onset underwent genetic testing to detect a set of repeat expansions known to cause autosomal dominant ataxia. In selected cases, a complete vestibular function evaluation and brain magnetic resonance imaging was acquired. In 17 of the 56 studied cases (including 11 of 43 index cases) we established a genetic diagnosis, which demonstrates that this is a promising approach to adult-onset ataxias in a population that remains underrepresented in worldwide genomic studies. We identified 9 individuals with SCA27B and 7 with CANVAS, highlighting the epidemiological relevance of these newly recognized etiologies, an information useful for planning the allocation of resources towards improving the access to genomic medicine in in our region.

KW - CANVAS syndrome

KW - Latin american population

KW - Neurogenetics

KW - Repeat expansions

KW - SCA27B

UR - https://www.scopus.com/pages/publications/105025378430

U2 - 10.1007/s12311-025-01937-5

DO - 10.1007/s12311-025-01937-5

M3 - Article

C2 - 41428128

AN - SCOPUS:105025378430

SN - 1473-4222

VL - 25

JO - Cerebellum

JF - Cerebellum

IS - 1

M1 - 3

ER -

Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia

Abstract

Bibliographical note

Keywords

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