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Article

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.

European journal of neurology - 1 Jul 2018

Rydning S L, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland M D, Hjorthaug H S, Sejersted Y, Tallaksen C, Selmer K K, Kamm C

Abstract excerpt

BACKGROUND AND PURPOSE: Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous monogenic disorders. To date, nearly 70 genes are known to be causative. The aim of this project was to identify the genetic cause of autosomal dominantly inherited pure HSP in two large, unrelated non-consanguineous families. METHODS: The two families were characterized clinically and selected members...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29528531
DOI: 10.1111/ene.13625

Genes

ERLIN2

Variants

Provenance

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