11 August 2020
Mutation behind neurodegenerative condition identified
Published online 12 April 2015
New research pinpoints mutation causing neurodegenerative cerebellar ataxias, offering pathway for better treatment.
An international team of researchers has discovered the mutation behind a newly described neurodegenerative syndrome. As well as helping clinicians identify the condition, their findings point the way towards improved treatment.
Cerebellar ataxias are a group of neurodegenerative conditions associated with imbalance, lack of coordination, and atrophy of the cerebellum. Researchers from 30 institutes around the world, including universities and medical centres in Egypt, Turkey, Iran, Jordan, the UAE, Kuwait, Pakistan, France, and the USA, sequenced the exomes from 96 families with child-onset cerebellar ataxia.
One family had one healthy child and three children with an ataxia characterized by coarsened features and intellectual disability, enabling the team to infer a genetic window for the responsible mutation. Within this window, they found a mutation in a gene involved in intracellular trafficking, SNX14.
“It's not very common to find a single potential candidate in a family, so I would say we were lucky,” says lead author Naiara Akizu. The same mutation was present in 11 other affected families, confirming its role in this particular syndrome. “We expect to keep discovering new genetic causes for families where we still haven't identified a clear causative gene,” says Akizu.
Another research group has also implicated SNX14 in this cerebellar ataxia syndrome. The additional data in this study helps delineate the condition's features, as well as offering a genetic and functional understanding of the basis for the condition, which will be useful in targeting therapeutic strategies, according to Akizu.
Akizu, N. et al. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction Nature Genetics http://dx.doi.org/10.1038/ng.3256 (2015).