Mutations of the ANG Gene in French Patients With Sporadic Amyotrophic Lateral Sclero
 

Mutations of the ANG Gene in French Patients With Sporadic Amyotrophic Lateral Sclerosis
Agathe Paubel, MD; Jeremy Violette, MD; Maïté Amy, PhD; Julien Praline, MD; Vincent Meininger, MD, PhD; William Camu, MD, PhD; Philippe Corcia, MD, PhD; Christian R. Andres, MD, PhD; Patrick Vourc’h, PhD; for the French Amyotrophic Lateral Sclerosis (ALS) Study Group


Arch Neurol. 2008;65(10):1333-1336.

Background Mutations in the angiogenin gene, ANG, have been associated recently with familial and sporadic forms of amyotrophic lateral sclerosis (ALS). However, the cellular and molecular mechanisms that link ANG, a multidomain protein, to ALS are still unknown.

Objective To assess the frequency of ANG gene mutations in 855 French patients with sporadic ALS.

Design We analyzed by direct sequencing the full coding region of the ANG gene in a cohort of French patients with sporadic ALS. The clinical characteristics of patients carrying ANG mutations are detailed.

Setting French ALS Study Group.

Patients A total of 855 patients with sporadic ALS.

Main Outcome Measures Results of genetic analyses.

Results We observed a previously identified mutation (pI46V) in 2 patients with ALS without a known family link and found a novel mutation (pR121H) in 1 patient who developed ALS with rapid progression. We did not observe an association between patients with ALS and the rs11701 polymorphism, as previously reported in certain ALS populations of other ethnic origins.

Conclusion Overall, our findings support the implication of ANG gene mutations as a rare but widespread cause of ALS.


Author Affiliations: Laboratoire de Biochimie et Biologie Moléculaire (Drs Paubel, Violette, Andres, and Vourc’h) and Centre SLA (Drs Praline and Corcia), CHRU de Tours, and INSERM U930, Université François-Rabelais (Dr Amy, Praline, Corcia, Andres, and Vourc’h), Tours, Fédération des Maladies du Système Nerveux, Centre référent SLA (Dr Meininger), Paris, and Centre SLA, CHRU de Montpellier (Dr Camu), Montpellier, France.

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http://archneur.ama-assn.org/cgi/con...ort/65/10/1333