This website provides information on patients with mutations in the LAMB1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by end truncating mutations in the LAMB1 gene, in heterozygosity, is a neurological disorder characterized by the association of an episodic memory dysfunction of the hippocampal type starting during the sixth decade and a diffuse leukoencephalopathy.
The penetrance of these mutations is currently unknown.
This website was created to identify additional patients with heterozygous end-truncating mutations in LAMB1 in order to increase knowledge on the consequences of these mutations.
Clinicians who identify a patient with an end-truncating mutation in LAMB1 are invited to submit this information to the database.
Hélène Morel, PharmD, AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, Paris, France, Helene.firstname.lastname@example.org
Dominique Herve, MD, AP-HP, Groupe Hospitalier Saint-Louis Lariboisière-Fernand-Widal, Service de Neurologie, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l’Œil (CERVCO), Paris, France, email@example.com