Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum

Philippe Corcia; Christian Lunetta; Philippe Couratier; Patrick Vourc'H; Marta Gromicho; Claude Desnuelle; Marie‐hélène Soriani; Susana Pinto; Mamede Carvalho

doi:10.1111/ene.14960

Article dans une revue

Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum

Philippe Corcia ^{1, 2, *} Christian Lunetta Philippe Couratier ^{3, 4, 5} Patrick Vourc'H ^{1, 6} Marta Gromicho ⁷ Claude Desnuelle ⁸ Marie‐hélène Soriani ⁸ Susana Pinto ⁷ Mamede Carvalho ⁷

* Auteur correspondant

1 UMR U 1253

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

3 NET - Neuroépidémiologie Tropicale

4 Service de Neurologie [CHU Limoges]

5 SLA CHU Limoges - Centre référent Sclérose Latérale Amyotrophique et autres maladies du motoneurone [CHU Limoges]

6 Laboratoire de Biochimie [CHU Tours]

7 Université de Lisbonne

8 CHU - Hôpital Pasteur [Nice]

Abstract : Background and purpose: Primary lateral sclerosis (PLS) is a motor neuron disorder characterized by a pure upper motor neuron degeneration in the bulbar and spinal regions. The key difference with amyotrophic lateral sclerosis (ALS) is the lower motor neuron system integrity. Despite important literature on this disease, the pathophysiology of PLS remains unknown, and the link with ALS still balances between a continuum and a separate entity from ALS. Methods: We report nine families in which both PLS and ALS cases occurred, in general among first-degree relatives. Results: The patients with PLS and ALS had a typical disease presentation. Genetic studies revealed mutations in SQSMT1, TBK1, and TREM2 genes in two PLS patients and one ALS patient. Conclusions: These results strongly support a phenotypic continuum between PLS and ALS.

Keywords : amyotrophic lateral sclerosis familial clustering genetics phenotype primary lateral sclerosis

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-03390641
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Soumis le : jeudi 21 octobre 2021 - 14:47:15
Dernière modification le : mardi 26 octobre 2021 - 16:20:30

Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum

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Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum

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