Motor Neuron Disease in 2012: Novel Causal Genes and Disease Modifiers

Overview

Journal Nat Rev Neurol

Specialty Neurology

Date 2013 Jan 16

PMID 23318296

Citations 11

Authors

Rosa Rademakers

Marka van Blitterswijk

Affiliations

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Abstract

In 2012, researchers published extensively on the genetic and clinicopathological characterization of patients with the newly discovered C9ORF72 repeat expansions, which cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Novel ALS-linked genes and genetic modifiers were identified through screening in animal models and patients.

Citing Articles

Histopathological changes of the spinal cord and motor neuron dynamics in SOD1 Tg mice.

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Repeats expansions in , and are not associated with ALS in Africans.

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Role of the C9ORF72 Gene in the Pathogenesis of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

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Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.

Ebbert M, Ross C, Pregent L, Lank R, Zhang C, Katzman R Acta Neuropathol. 2017; 134(5):715-728.

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References

Renton A, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs J . A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011; 72(2):257-68. PMC: 3200438. DOI: 10.1016/j.neuron.2011.09.010. View

Majounie E, Renton A, Mok K, Dopper E, Waite A, Rollinson S . Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012; 11(4):323-30. PMC: 3322422. DOI: 10.1016/S1474-4422(12)70043-1. View

Wu C, Fallini C, Ticozzi N, Keagle P, Sapp P, Piotrowska K . Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature. 2012; 488(7412):499-503. PMC: 3575525. DOI: 10.1038/nature11280. View

DeJesus-Hernandez M, Mackenzie I, Boeve B, Boxer A, Baker M, Rutherford N . Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011; 72(2):245-56. PMC: 3202986. DOI: 10.1016/j.neuron.2011.09.011. View

Van Hoecke A, Schoonaert L, Lemmens R, Timmers M, Staats K, Laird A . EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat Med. 2012; 18(9):1418-22. DOI: 10.1038/nm.2901. View