ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series

Andona Milovanović; Ana Westenberger; Iva Stanković; Olivera Tamaš; Marija Branković; Ana Marjanović; Björn-Hergen Laabs; Max Brand; Rajasumi Rajalingam; Connie Marras; Katja Lohmann; Vesna Branković; Ivana Novaković; Igor Petrović; Marina Svetel; Christine Klein; Vladimir S Kostić; Natasa Dragašević-Mišković

doi:10.1002/mds.29729

ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series

Andona Milovanović, Ana Westenberger, Iva Stanković, Olivera Tamaš, Marija Branković, Ana Marjanović, Björn-Hergen Laabs, Max Brand, Rajasumi Rajalingam, Connie Marras, Katja Lohmann, Vesna Branković, Ivana Novaković, Igor Petrović, Marina Svetel, Christine Klein, Vladimir S Kostić, Natasa Dragašević-Mišković

5 Zitate (Scopus)

Abstract

BACKGROUND: Biallelic pathogenic variants in the ANO10 gene cause autosomal recessive progressive ataxia (ATX-ANO10).

METHODS: Following the MDSGene protocol, we systematically investigated genotype-phenotype relationships in ATX-ANO10 based on the clinical and genetic data from 82 published and 12 newly identified patients.

RESULTS: Most patients (>80%) had loss-of-function (LOF) variants. The most common variant was c.1150_1151del, found in all 29 patients of Romani ancestry, who had a 14-year earlier mean age at onset than patients homozygous for other LOF variants. We identified previously undescribed clinical features of ATX-ANO10 (e.g., facial muscle involvement and strabismus) suggesting the involvement of brainstem pathology, and we propose a diagnostic algorithm that may aid clinical ATX-ANO10 diagnosis.

CONCLUSIONS: The early disease onset in patients with c.1150_1151del may indicate the existence of genetic/environmental disease-modifying factors in the Romani population. Our findings will inform patient counseling and may improve our understanding of the disease mechanism. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Originalsprache	Englisch
Zeitschrift	Movement disorders : official journal of the Movement Disorder Society
Jahrgang	39
Ausgabenummer	5
Seiten (von - bis)	887-892
Seitenumfang	6
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.29729
Publikationsstatus	Veröffentlicht - 05.2024

Fördermittel

MDSGene is funded by the International Parkinson and Movement Disorder Society, the Parkinson's Foundation, and the University of Lübeck. We thank Natascha Bahr for creating Figs. 1 and 2 and Figs. S3 and S4 , and Harutyun Madoev for maintaining and expanding the MDSGene website. Open Access funding enabled and organized by Projekt DEAL. MDSGene is funded by the International Parkinson and Movement Disorder Society, the Parkinson's Foundation, and the University of Lübeck. This study was supported by the German Research Foundation (Deutsche Forschungsgeneinschaft [DFG], FOR2488). Funding sources: A.Mi.: Employment: Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia. A.W.: Consultancies: consultant for medical writing to CENTOGENE GmbH; Grants: The German Research Foundation; Employment: University Clinic Schleswig‐Holstein. I.S.: Employment: Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia. O.T.: Employment: Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia. M.Brank.: Employment: Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia. A. Ma.: Employment: Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia. B.‐H.L.: Employment University Clinic Schleswig‐Holstein. M.Brand.: Employment: University Clinic Schleswig‐Holstein. R.R.: Employment: University Health Network. C.M.: Honoraria: Parkinson's Foundation (US); Grants: Parkinson's Foundation (US), The Michael J. Fox Foundation, The Weston Family Foundation; Employment: University Health Network, Toronto, Canada. K.L.: Grants: German Research Foundation, MJFF (GP2), Damp Foundation, Parkinson´s Foundation; Employment: University of Lübeck. V.B.: Employment: Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia. I.N.: Employment: Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia. I.P.: Employment: Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia. M.S.: Employment: Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia. C.K.: Consultancies: medical advisor to Centogene, Retromer Therapeutics, and Takeda; Honoraria: speaking honoraria from Desitin and Bial; Grants: German Research Foundation; the BMBF; MJFF, and ASAP; Employment: University of Lübeck and University Hospital of Schleswig‐Holstein; Royalties: Oxford University Press. V.S.K.: Employment: Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia. N.D.‐M.: Employment: Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia. K.L.: Grants: German Research Foundation, MJFF (GP2), Damp Foundation, Parkinson´s Foundation; Employment: University of Lübeck.

Träger	Trägernummer
Parkinson's Foundation
International Parkinson and Movement Disorder Society
Damp Stiftung
Bundesministerium für Bildung und Forschung
Michael J. Fox Foundation for Parkinson's Research
Deutsche Forschungsgemeinschaft	FOR2488

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen

Strategische Forschungsbereiche und Zentren

Querschnittsbereich: Medizinische Genetik

DFG-Fachsystematik

2.23-06 Molekulare und zelluläre Neurologie und Neuropathologie

Dokumente

10.1002/mds.29729

Weitere Links

FOR 2488: Reduzierte Penetranz bei erblichen Bewegungsstörungen: Aufklärung von Mechanismen endogener Krankheitsprotektion
Klein, C. (Sprecher*in), Berg, D. (Projektleiter*in (PI)), Brüggemann, N. (Projektleiter*in (PI)), Lohmann, K. (Projektleiter*in (PI)), Seibler, P. (Projektleiter*in (PI)), König, I. R. (Projektleiter*in (PI)), Lill, C. M. (Projektleiter*in (PI)), Bertram, L. (Projektleiter*in (PI)), Erdmann, J. (Projektleiter*in (PI)), Grünewald, A. K. (Projektleiter*in (PI)), Kasten, M. (Projektleiter*in (PI)), Westenberger, A. (Projektleiter*in (PI)), Rakovic, A. (Projektleiter*in (PI)), Kaiser, F. (Projektleiter*in (PI)), Caliebe, A. (Projektleiter*in (PI)), Busch, H. S. (Projektleiter*in (PI)), Krawczak, M. (Projektleiter*in (PI)) & Spielmann, M. (Projektleiter*in (PI))
01.01.16 → 31.12.24
Projekt: DFG Verbundprojekte › DFG Forschungsgruppen (FOR)

Zitieren

Milovanović, A., Westenberger, A., Stanković, I., Tamaš, O., Branković, M., Marjanović, A., Laabs, B.-H., Brand, M., Rajalingam, R., Marras, C., Lohmann, K., Branković, V., Novaković, I., Petrović, I., Svetel, M., Klein, C., Kostić, V. S., & Dragašević-Mišković, N. (2024). ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series. Movement disorders : official journal of the Movement Disorder Society, 39(5), 887-892. https://doi.org/10.1002/mds.29729

@article{14a10d949a3848ebb7800ff04f5e3134,

title = "ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series",

abstract = "BACKGROUND: Biallelic pathogenic variants in the ANO10 gene cause autosomal recessive progressive ataxia (ATX-ANO10).METHODS: Following the MDSGene protocol, we systematically investigated genotype-phenotype relationships in ATX-ANO10 based on the clinical and genetic data from 82 published and 12 newly identified patients.RESULTS: Most patients (>80\%) had loss-of-function (LOF) variants. The most common variant was c.1150\_1151del, found in all 29 patients of Romani ancestry, who had a 14-year earlier mean age at onset than patients homozygous for other LOF variants. We identified previously undescribed clinical features of ATX-ANO10 (e.g., facial muscle involvement and strabismus) suggesting the involvement of brainstem pathology, and we propose a diagnostic algorithm that may aid clinical ATX-ANO10 diagnosis.CONCLUSIONS: The early disease onset in patients with c.1150\_1151del may indicate the existence of genetic/environmental disease-modifying factors in the Romani population. Our findings will inform patient counseling and may improve our understanding of the disease mechanism. {\textcopyright} 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.",

author = "Andona Milovanovi{\'c} and Ana Westenberger and Iva Stankovi{\'c} and Olivera Tama{\v s} and Marija Brankovi{\'c} and Ana Marjanovi{\'c} and Bj{\"o}rn-Hergen Laabs and Max Brand and Rajasumi Rajalingam and Connie Marras and Katja Lohmann and Vesna Brankovi{\'c} and Ivana Novakovi{\'c} and Igor Petrovi{\'c} and Marina Svetel and Christine Klein and Kosti{\'c}, \{Vladimir S\} and Natasa Draga{\v s}evi{\'c}-Mi{\v s}kovi{\'c}",

note = "Publisher Copyright: {\textcopyright} 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.",

year = "2024",

month = may,

doi = "10.1002/mds.29729",

language = "English",

volume = "39",

pages = "887--892",

journal = "Movement disorders : official journal of the Movement Disorder Society",

issn = "0885-3185",

publisher = "John Wiley \& Sons Inc.",

number = "5",

}

Milovanović, A, Westenberger, A, Stanković, I, Tamaš, O, Branković, M, Marjanović, A, Laabs, B-H , Brand, M, Rajalingam, R, Marras, C, Lohmann, K, Branković, V, Novaković, I, Petrović, I, Svetel, M, Klein, C, Kostić, VS & Dragašević-Mišković, N 2024, 'ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series', Movement disorders : official journal of the Movement Disorder Society, Jg. 39, Nr. 5, S. 887-892. https://doi.org/10.1002/mds.29729

ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series. / Milovanović, Andona; Westenberger, Ana; Stanković, Iva et al.
in: Movement disorders : official journal of the Movement Disorder Society, Jahrgang 39, Nr. 5, 05.2024, S. 887-892.

Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

TY - JOUR

T1 - ANO10-Related Spinocerebellar Ataxia

T2 - MDSGene Systematic Literature Review and a Romani Case Series

AU - Milovanović, Andona

AU - Westenberger, Ana

AU - Stanković, Iva

AU - Tamaš, Olivera

AU - Branković, Marija

AU - Marjanović, Ana

AU - Laabs, Björn-Hergen

AU - Brand, Max

AU - Rajalingam, Rajasumi

AU - Marras, Connie

AU - Lohmann, Katja

AU - Branković, Vesna

AU - Novaković, Ivana

AU - Petrović, Igor

AU - Svetel, Marina

AU - Klein, Christine

AU - Kostić, Vladimir S

AU - Dragašević-Mišković, Natasa

PY - 2024/5

Y1 - 2024/5

N2 - BACKGROUND: Biallelic pathogenic variants in the ANO10 gene cause autosomal recessive progressive ataxia (ATX-ANO10).METHODS: Following the MDSGene protocol, we systematically investigated genotype-phenotype relationships in ATX-ANO10 based on the clinical and genetic data from 82 published and 12 newly identified patients.RESULTS: Most patients (>80%) had loss-of-function (LOF) variants. The most common variant was c.1150_1151del, found in all 29 patients of Romani ancestry, who had a 14-year earlier mean age at onset than patients homozygous for other LOF variants. We identified previously undescribed clinical features of ATX-ANO10 (e.g., facial muscle involvement and strabismus) suggesting the involvement of brainstem pathology, and we propose a diagnostic algorithm that may aid clinical ATX-ANO10 diagnosis.CONCLUSIONS: The early disease onset in patients with c.1150_1151del may indicate the existence of genetic/environmental disease-modifying factors in the Romani population. Our findings will inform patient counseling and may improve our understanding of the disease mechanism. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

AB - BACKGROUND: Biallelic pathogenic variants in the ANO10 gene cause autosomal recessive progressive ataxia (ATX-ANO10).METHODS: Following the MDSGene protocol, we systematically investigated genotype-phenotype relationships in ATX-ANO10 based on the clinical and genetic data from 82 published and 12 newly identified patients.RESULTS: Most patients (>80%) had loss-of-function (LOF) variants. The most common variant was c.1150_1151del, found in all 29 patients of Romani ancestry, who had a 14-year earlier mean age at onset than patients homozygous for other LOF variants. We identified previously undescribed clinical features of ATX-ANO10 (e.g., facial muscle involvement and strabismus) suggesting the involvement of brainstem pathology, and we propose a diagnostic algorithm that may aid clinical ATX-ANO10 diagnosis.CONCLUSIONS: The early disease onset in patients with c.1150_1151del may indicate the existence of genetic/environmental disease-modifying factors in the Romani population. Our findings will inform patient counseling and may improve our understanding of the disease mechanism. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

UR - https://www.scopus.com/pages/publications/85187468050

UR - https://www.mendeley.com/catalogue/ad489666-5aab-3cdc-9034-cc5c2c57ef0c/

U2 - 10.1002/mds.29729

DO - 10.1002/mds.29729

M3 - Journal articles

C2 - 38469933

SN - 0885-3185

VL - 39

SP - 887

EP - 892

JO - Movement disorders : official journal of the Movement Disorder Society

JF - Movement disorders : official journal of the Movement Disorder Society

IS - 5

ER -

ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series

Abstract

Fördermittel

UN SDGs

Strategische Forschungsbereiche und Zentren

DFG-Fachsystematik

Dokumente

Weitere Links

Fingerprint

Projekte

FOR 2488: Reduzierte Penetranz bei erblichen Bewegungsstörungen: Aufklärung von Mechanismen endogener Krankheitsprotektion

Zitieren