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- Title
Expanding the clinical and genetic heterogeneity of SPAX5.
- Authors
Dosi, Claudia; Galatolo, Daniele; Rubegni, Anna; Doccini, Stefano; Pasquariello, Rosa; Nesti, Claudia; Sicca, Federico; Barghigiani, Melissa; Battini, Roberta; Tessa, Alessandra; Santorelli, Filippo M.
- Abstract
Mutations in the ATPase family 3‐like gene (AFG3L2) have been linked to autosomal‐dominant spinocerebellar ataxia type 28 and autosomal recessive spastic ataxia‐neuropathy syndrome. Here, we describe the case of a child carrying bi‐allelic mutations in AFG3L2 and presenting with ictal paroxysmal episodes associated with neuroimaging suggestive of basal ganglia involvement. Studies in skin fibroblasts showed a significant reduction of AFG3L2 expression. The relatively mild clinical presentation and the benign course, in spite of severe neuroimaging features, distinguish this case from data reported in the literature, and therefore expand the spectrum of neurological and neuroradiological features associated with AFG3L2 mutations.
- Subjects
SPINOCEREBELLAR ataxia; BASAL ganglia; HETEROGENEITY; ADENOSINE triphosphatase; GENE families; FIBROBLASTS
- Publication
Annals of Clinical & Translational Neurology, 2020, Vol 7, Issue 4, p595
- ISSN
2328-9503
- Publication type
Article
- DOI
10.1002/acn3.51024