Phenotypic and genotypic studies of ALS cases in ALS-SMA families

Philippe Corcia; Patrick Vourc’h; Hélène Blasco; Philippe Couratier; Audrey Dangoumau; Remi Bellance; Claude Desnuelle; Fausto Viader; Vivien Pautot; Stéphanie Millecamps; Salah Bakkouche; François Salachas; Christian Andres; Vincent Meininger; William Camu

Article dans une revue

Phenotypic and genotypic studies of ALS cases in ALS-SMA families

Philippe Corcia ^{1, *} Patrick Vourc’h ² Hélène Blasco ² Philippe Couratier ^{3, 4} Audrey Dangoumau ² Remi Bellance ⁵ Claude Desnuelle ⁶ Fausto Viader ⁷ Vivien Pautot ⁸ Stéphanie Millecamps ⁹ Salah Bakkouche ¹ François Salachas ¹⁰ Christian Andres ² Vincent Meininger ¹⁰ William Camu ¹¹

* Auteur correspondant

1 SLA CHRU Tours - Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours]

2 Université Francois Rabelais [Tours]

3 NET - Neuroépidémiologie Tropicale

4 Service de Neurologie [CHU Limoges]

5 CHU de la Martinique [Fort de France]

6 CHU Nice

7 NIMH - Neuropsychologie et imagerie de la mémoire humaine

8 Service de neurologie [Angers]

9 CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière

10 Centre référent maladies rares [CHU Pitié Salpêtrière]

11 SLA CHRU Montpellier - Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier]

Abstract : BACKGROUND: Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. There is a growing literature supporting common pathophysiological patterns between those disorders. One important clinical issue for that is the co-occurrence of both diseases within a family. OBJECTIVES: To collect families in which ALS and SMA patients co-exist and describe the phenotype and the genotype of ALS patients. PATIENTS AND METHODS: Nine families with co-occurrence of SMA and ALS have been gathered over the last 15 years. Epidemiological, phenotype and genetic status were collected. RESULTS: Out of the nine families, six corresponded to the criteria of familial ALS (FALS). Clinical data were available for 11 patients out of the 15 ALS cases. Mean age of onset was 58.5 years, site of onset was lower limbs in nine cases (81.8%), median duration was 22 months. Four ALS patients carried a mutation: three mutations in SOD1 gene (G147N in two cases and one with E121G) and one repeat expansion in the C9ORF72 gene. Three patients had abnormal SMN1 copy numbers. CONCLUSIONS: While the high proportion of familial history of ALS cases in these ALS-SMA pedigrees could have suggested that these familial clusters of the two most frequent MND rely on a genetic background, we failed to exclude that this occurred by chance.

Keywords : FALS SMA SMN genes

Type de document :

Article dans une revue

Domaine :

Sciences du Vivant [q-bio] / Santé publique et épidémiologie

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https://hal-unilim.archives-ouvertes.fr/hal-02029592
Contributeur : Elisabeth Grelier <>
Soumis le : mercredi 20 février 2019 - 10:29:53
Dernière modification le : lundi 12 octobre 2020 - 10:28:05

Phenotypic and genotypic studies of ALS cases in ALS-SMA families

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