My Editor’s Choice

Professor Ulf Ziemann,Editor-in-Chief, Clinical Neurophysiology

Professor Ulf Ziemann
Editor-in-Chief, Clinical Neurophysiology

The Editor’s Choice—

Cortical network dysfunction revealed by magnetoencephalography in carriers of spinocerebellar ataxia 1 or 2 mutation

Clinical Neurophysiology Volume 131, Issue 7

Visani E, Mariotti C, Nanetti L, Mongelli A, Castaldo A, Panzica F, Rossi Sebastiano D, Nigri A, Grisoli M, Franceschetti S, Canafoglia L (2020) Cortical network dysfunction revealed by magnetoencephalography in carriers of spinocerebellar ataxia 1 or 2 mutation. Clin Neurophysiol 131: 1548–1555

Hereditary spinocerebellar ataxias type 1 and 2 (SCA1, SCA2) are relatively rare CAG trinucleotide repeat disorders in the ATXN1 or ATXN2 genes. The carriers develop the disease across a wide span of ages, depending on CAG repeat length. The progressive ataxia is thought to be caused by degeneration of the cerebellum and its efferent pathways. The magnetoencephalography study by Visani and colleagues in this issue of Clinical Neurophysiology demonstrated, using a visually cued Go/No-go task that SCA1 and SCA2 patients also show cortical pathology by loss of side predominance for alpha and beta event-related desynchronization (ERD) and significantly weakened beta event-related synchronization. Moreover, preclinical gene mutation carriers exhibited significantly enhanced alpha ERD, in particular when close to the estimated time of symptom onset. The study is important for three reasons: (1) it demonstrates cortical pathology in SCA1 and SCA2; (2) it provides a potential biomarker for imminent disease onset in preclinical gene mutation carriers; (3) this may be of particular utility given the emergent development of causally effective gene therapies in SCA1 and SCA2 that very likely will be available in the near future.

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