Aug 23, 2017

Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review

Neurologia i neurochirurgia polska
Joyutpal DasJohn Ealing

Abstract

The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene on chromosome 3 belongs to a family of genes encoding intracellular calcium channel proteins. Such channels are located primarily within the endoplasmic reticular membrane and release Ca2+, an intracellular messenger, which governs numerous intracellular and extracellular functions. We report a family with infantile-onset cerebellar ataxia with delayed motor development and intellectual disability caused by a heterozygous c.805C>T, p.Arg269Trp missense mutation in ITPR1. Both affected family members had postural tremor, hypotonia and dysarthria, but neither had pyramidal signs. Their neuroimaging revealed cerebellar atrophy. Several neurological conditions have been associated with ITPR1 mutations, such as spinocerebellar ataxia type 15 and Gillespie syndrome, and the phenotype may vary according to the location and type of mutations. Spinocerebellar ataxia type 15 is an autosomal dominant disorder, which causes late onset pure cerebellar ataxia. Gillespie syndrome is characterised by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia and cerebellar atrophy. In this report, we provide a detailed phenotypic description of a family with a missense m...Continue Reading

  • References28
  • Citations2

Mentioned in this Paper

Cerebellar Diseases
Pyramidal Sign
Congenital Structural Myopathy
Ataxia as Late Effect of Cerebrovascular Disease
Mice, Inbred BALB C
Extracellular
Genes
Pyramid Packable Composite
Medication-Induced Postural Tremor
Cataract, Autosomal Dominant

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