Expanding the clinical and genetic heterogeneity of SPAX5.
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ABSTRACT:
SUBMITTER: Dosi C
PROVIDER: S-EPMC7187698 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
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Expanding the clinical and genetic heterogeneity of SPAX5.
Dosi Claudia C Galatolo Daniele D Rubegni Anna A Doccini Stefano S Pasquariello Rosa R Nesti Claudia C Sicca Federico F Barghigiani Melissa M Battini Roberta R Tessa Alessandra A Santorelli Filippo M FM
Annals of clinical and translational neurology 20200401 4
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 a ...[more]
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