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Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

4 Jul 2019

Abstract excerpt

BACKGROUND: Mutations in ARL6IP1, which encodes a tetraspan membrane protein localized to the endoplasmic reticulum (ER), have been recently described in a large family with a complicated form of hereditary spastic paraplegia (HSP). CASE PRESENTATION: We sought to expand the HSP phenotype associated with ARL6IP1 variants by examining a Saudi kindred with a clinically more severe presentation, which resulted in...

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PMID: 31272422
DOI: 10.1186/s12881-019-0851-6

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