Rive Le Gouard, Nicolas and G. Bah, Maissa and Coarelli, Giulia and Heinzmann, Anna and Fauret, Anne-Laure and de Sainte-Agathe, Jean-Madeleine and Cazeneuve, Cecile and Gerasimenko, Anna and Gras, Domitille and Capri, Yline and Renaud, Mathilde and Brais, Bernard and Grenenko, Cecile and Masurel, Alice and Berquin, Patrick and Jobic, Florence and Metreau, Julia and Deiva, Kumaran and Afenjar, Alexandra and Gravrand, Victor and Lannuzel, Annie and Anheim, Mathieu and Geis, Tobias and Hehr, Ute and Madan Cohen, Jennifer and Desnous, Beatrice and J. A. Kievit, Anneke and Bahi-buisson, Nadia and Rodriguez, Diana and Renaldo, Florence and Cances, Claude and Devos, David and Angelini, Chloe and Goizet, Cyril and Ewenczyk, Claire and Durr, Alexandra and Mignot, Cyril (2025) The Two Faces of Pediatric SCA2. EUROPEAN JOURNAL OF NEUROLOGY, 32 (8): e70314. ISSN 1351-5101, 1468-1331
Full text not available from this repository. (Request a copy)Abstract
Introduction Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurological disease usually described in adults. Expanded CAG repeats in the ATXN2 gene can lead to pediatric onset. This study aims to describe the natural history of SCA2 in children.Methods We analyzed clinical and genetic data from 22 children with SCA2 across 17 institutions and compared them to 20 previously reported cases.Results The phenotype of pediatric SCA2 can be divided into two distinct groups based on CAG repeat size and age. In the infantile group (n = 9), developmental delay and seizures were prominent features, along with cerebellar and cerebral atrophy. In the juvenile group (n = 13), the disease was a cerebellar degeneration similar to adults. A threshold of 88 +/- 4 CAG repeats distinguished the infantile group from the juvenile group. Pediatric SCA2 type was independent of parental origin; SCA2 was maternally inherited in 22%, including three infantile presentations.Discussion This large cohort of pediatric SCA2 disease provides the first comprehensive description of its characteristics, which differ from those of SCA7. Indeed, the phenotypic spectrum of SCA7 in children is continuous, while that of SCA2 is bimodal. Although pediatric SCA2 can be difficult to diagnose by genome-wide sequencing, it is a recognizable disease that can be easily diagnosed with a targeted study of the number of CAGs in ATXN2. Genetic counseling for families should consider the significant proportion of maternal transmission.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | SPINOCEREBELLAR ATAXIA TYPE-2; REPEAT EXPANSION; CHILDHOOD-ONSET; GENE; RETINITIS; CONSENSUS; CLONING; CAG; pediatrics; prognostic; review; SCA2 |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Kinder- und Jugendmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 31 Mar 2026 10:14 |
| Last Modified: | 31 Mar 2026 10:14 |
| URI: | https://pred.uni-regensburg.de/id/eprint/67816 |
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