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

3 Citations (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.

Original language	English
Journal	Movement disorders : official journal of the Movement Disorder Society
Volume	39
Issue number	5
Pages (from-to)	887-892
Number of pages	6
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.29729
Publication status	Published - 05.2024

Funding

Funders	Funder number
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

Research Areas and Centers

Research Area: Medical Genetics

DFG Research Classification Scheme

2.23-06 Molecular and Cellular Neurology and Neuropathology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1002/mds.29729

Cite this

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.",

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}

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, vol. 39, no. 5, pp. 887-892. https://doi.org/10.1002/mds.29729

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

Funding

Research Areas and Centers

DFG Research Classification Scheme

UN SDGs

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Other files and links

Fingerprint

RU 2488: Reduced penetrance in hereditary movement disorders: Elucidating mechanisms of endogenous disease protection

Cite this

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

Abstract

Funding

Research Areas and Centers

DFG Research Classification Scheme

UN SDGs

Access to Document

Other files and links

Fingerprint

Projects

RU 2488: Reduced penetrance in hereditary movement disorders: Elucidating mechanisms of endogenous disease protection

Cite this