ITPR1 gene encodes inositol 1,4,5-trisphosphate-receptor-type 1, a Ca2+ channel highly expressed in cerebellar Purkinje cells. ITPR1 gene variants, through a loss-of-function mechanism, have been found to be related with the manifestation of spinocerebellar ataxia (SCA) 15, an adult-onset slow progressive cerebellar ataxia, SCA 29, a rare non-progressive congenital cerebellar ataxia and Gillepsie syndrome (SCA 29 phenotype plus aniridia). They share an heterogeneity of additional phenotypic features while no genotype-phenotype correlation has ever been found.
Here we report the case of a boy with cerebellar ataxia who came to our clinic due to his cervical dystonia in the form of retrocollis. He presented an early-onset, non-progressive cerebellar ataxia, with cognitive impairment and delayed motor milestones. Whole exome sequencing (WES) revealed an heterozygous nucleotide variation, c.829A > C (p.Ser277Arg) in ITPR1 gene (NM_001168272.1), a de novo ITPR1 variant, as his parents came up with negative genetic testing. Due to his clinical presentation and genetic result, we came up with the diagnosis of SCA 29.
We described cervical dystonia as a phenotypic feature of ITPR1 related SCA 29, found in a new de novo ITPR1-variant.
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Published online: February 08, 2022
Accepted: January 17, 2022
Received in revised form: January 15, 2022
Received: October 21, 2021
© 2022 The Japanese Society of Child Neurology Published by Elsevier B.V. All rights reserved.