. 2024 Apr;271(4):2078-2085.

doi: 10.1007/s00415-024-12182-x. Epub 2024 Jan 23.

Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?

Thomas Wirth^{1

2

3}, Céline Bonnet^{4

5}, Clarisse Delvallée^{6

7

8}, David Pellerin^{9

10}, Thomas Bogdan⁶, Guillemette Clément¹¹, Audrey Schalk^{7

12}, Jean-Baptiste Chanson^{6

7

13}, Marie-Céline Fleury^{6

7}, Amélie Piton^{7

8

12}, Nadège Calmels^{7

12}, Izzie Jacques Namer^{14

15

16}, Stéphane Kremer^{15

17}, Bernard Brais⁹, Christine Tranchant^{6

7

8}, Mathilde Renaud^{5

11

18}, Mathieu Anheim^{6

7

8}

Affiliations

¹ Neurology Department, Strasbourg University Hospital, Strasbourg, France. thomas.wirth@chru-strasbourg.fr.
² Strasbourg Federation of Translational Medicine, Strasbourg University, Strasbourg, France. thomas.wirth@chru-strasbourg.fr.
³ Institute of Genetics and Cellular and Molecular Biology, INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch-Graffenstaden, France. thomas.wirth@chru-strasbourg.fr.
⁴ Medical Genetics Laboratory, Nancy Regional University Hospital, Nancy, France.
⁵ INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Lorraine Univesity, 54000, Nancy, France.
⁶ Neurology Department, Strasbourg University Hospital, Strasbourg, France.
⁷ Strasbourg Federation of Translational Medicine, Strasbourg University, Strasbourg, France.
⁸ Institute of Genetics and Cellular and Molecular Biology, INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch-Graffenstaden, France.
⁹ Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Canada.
¹⁰ Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
¹¹ Neurology Department, Nancy Regional University Hospital, Nancy, France.
¹² Genetic Diagnosis Laboratory, Strasbourg University Hospital, Strasbourg, France.
¹³ Neuromuscular Center Nord/Est/Ile-de-France, Strasbourg University Hospital, Strasbourg, France.
¹⁴ MNMS Platform, Institut de Cancérologie Strasbourg Europe, Strasbourg, France.
¹⁵ ICube, University of Strasbourg/CNRS UMR 7357, Strasbourg, France.
¹⁶ Department of Nuclear Medicine and Molecular Imaging, ICANS, Strasbourg, France.
¹⁷ Neuroradiology Department, Strasbourg University Hospital, Strasbourg, France.
¹⁸ Clinical Genetics Department, Nancy Regional University Hospital, Nancy, France.

PMID: 38263489
DOI: 10.1007/s00415-024-12182-x

Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?

Thomas Wirth et al. J Neurol. 2024 Apr.

. 2024 Apr;271(4):2078-2085.

doi: 10.1007/s00415-024-12182-x. Epub 2024 Jan 23.

Authors

Affiliations

¹ Neurology Department, Strasbourg University Hospital, Strasbourg, France. thomas.wirth@chru-strasbourg.fr.
² Strasbourg Federation of Translational Medicine, Strasbourg University, Strasbourg, France. thomas.wirth@chru-strasbourg.fr.
³ Institute of Genetics and Cellular and Molecular Biology, INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch-Graffenstaden, France. thomas.wirth@chru-strasbourg.fr.
⁴ Medical Genetics Laboratory, Nancy Regional University Hospital, Nancy, France.
⁵ INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Lorraine Univesity, 54000, Nancy, France.
⁶ Neurology Department, Strasbourg University Hospital, Strasbourg, France.
⁷ Strasbourg Federation of Translational Medicine, Strasbourg University, Strasbourg, France.
⁸ Institute of Genetics and Cellular and Molecular Biology, INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch-Graffenstaden, France.
⁹ Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Canada.
¹⁰ Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
¹¹ Neurology Department, Nancy Regional University Hospital, Nancy, France.
¹² Genetic Diagnosis Laboratory, Strasbourg University Hospital, Strasbourg, France.
¹³ Neuromuscular Center Nord/Est/Ile-de-France, Strasbourg University Hospital, Strasbourg, France.
¹⁴ MNMS Platform, Institut de Cancérologie Strasbourg Europe, Strasbourg, France.
¹⁵ ICube, University of Strasbourg/CNRS UMR 7357, Strasbourg, France.
¹⁶ Department of Nuclear Medicine and Molecular Imaging, ICANS, Strasbourg, France.
¹⁷ Neuroradiology Department, Strasbourg University Hospital, Strasbourg, France.
¹⁸ Clinical Genetics Department, Nancy Regional University Hospital, Nancy, France.

PMID: 38263489
DOI: 10.1007/s00415-024-12182-x

Abstract

Background: Whether spinocerebellar ataxia 27B (SCA27B) may present as a cerebellar multiple system atrophy (MSA-C) mimic remains undetermined.

Objectives: To assess the prevalence of FGF14 (GAA)_≥250 expansions in patients with MSA-C, to compare SCA27B and MSA-C clinical presentation and natural history.

Methods: FGF14 expansion screening combined with longitudinal deep-phenotyping in a prospective cohort of 195 patients with sporadic late-onset cerebellar ataxia.

Results: After a mean disease duration of 6.4 years, 111 patients were not meeting criteria for MSA-C while 24 and 60 patients had a final diagnosis of possible and probable MSA-C, respectively. 16 patients carried an FGF14 (GAA)_≥250 expansion in the group not meeting MSA-C criteria (14.4%), 3 patients in the possible MSA-C group (12.5%), but none among probable MSA-C cases. SCA27B patients were evolving more slowly than probable MSA-C patients.

Conclusions: FGF14 (GAA)_≥250 expansion may account for MSA look-alike cases and should be screened among slow progressors.

Keywords: FGF14; Cerebellar ataxia; Genetic diagnosis; Multiple system atrophy; SCA27B.

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Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?

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Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?

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