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01-02-2013 | Short Communication

The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases

Authors: Larissa Arning, Jörg T. Epplen, Elisa Rahikkala, Corinna Hendrich, Albert C. Ludolph, Anne-Dorte Sperfeld

Published in: Neurogenetics | Issue 1/2013

Abstract

Mutations in the senataxin (SETX) gene can cause amyotrophic lateral sclerosis 4 (ALS4), an autosomal dominant form of juvenile onset amyotrophic lateral sclerosis, or result in autosomal recessive ataxia with oculomotor apraxia type 2. Great caution regarding the possible disease causation, especially of missense variations, has to be taken. Here, we evaluated the significance of all previously reported SETX missense mutations as well as six newly identified variations in 54 patients suspected of having ALS4. Yet, epidemiologic and in silico evidence indicates that all newly identified variations and two previously published ALS4-related missense variations (C1554G and I2547T) are most likely non-pathogenic, demonstrating the problems of interpretation of SETX missense alleles in the absence of functional assays.

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Title: The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases
Authors: Larissa Arning
Jörg T. Epplen
Elisa Rahikkala
Corinna Hendrich
Albert C. Ludolph
Anne-Dorte Sperfeld
Publication date: 01-02-2013
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 1/2013
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-012-0347-4

ACC 2024 Congress

Springer Medicine

The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases

Abstract

ACC 2024 Congress

Springer Medicine

Abstract

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