Spinocerebellar Ataxia type 29 in a family of Māori descent

Kathie J Ngo; Gemma Poke; Katherine Neas; Brent L Fogel

doi:10.1186/s40673-019-0108-3

Spinocerebellar Ataxia type 29 in a family of Māori descent

Cerebellum Ataxias. 2019 Oct 12:6:14. doi: 10.1186/s40673-019-0108-3. eCollection 2019.

Authors

Kathie J Ngo¹, Gemma Poke², Katherine Neas², Brent L Fogel^{1

3}

Affiliations

¹ 1Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, Gonda Room 6554, Los Angeles, CA 90095 USA.
² Genetic Health Service NZ, Wellington, New Zealand.
³ 3Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095 USA.

Abstract

Background: Mutations in the Inositol 1,4,5-Trisphosphate Receptor Type 1 (ITPR1) gene cause spinocerebellar ataxia type 29 (SCA29), a rare congenital-onset autosomal dominant non-progressive cerebellar ataxia. The Māori, indigenous to New Zealand, are an understudied population for genetic ataxias.

Case presentation: We investigated the genetic origins of spinocerebellar ataxia in a family of Māori descent consisting of two affected sisters and their unaffected parents. Whole exome sequencing identified a pathogenic variant, p.Thr267Met, in ITPR1 in both sisters, establishing their diagnosis as SCA29.

Conclusions: We report the identification of a family of Māori descent with a mutation causing SCA29, extending the worldwide scope of this disease. Although this mutation has occurred de novo in other populations, suggesting a mutational hotspot, the children in this family inherited it from their unaffected mother who was germline mosaic.

Keywords: Cerebellar Ataxia; Gait disorders/ataxia; Genetic testing; Māori; Neurogenetics; SCA29; Spinocerebellar Ataxia.

Publication types

Case Reports