This website provides information on patients with mutations in the BSCL2 (Berardinelli-Seip congenital lipodystrophy 2) gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the BSCL2 gene is a multisystem disorder characterized by either a autosomal recessive congenital generalized lipodystrophy (type 2) or an autosomal dominant complex distal hereditary motor neuropathy (type V) with early upper-limb involvement and sometimes spasticity, the latter known as Silver Syndrome or spastic paraplegia type 17 (SPG17).
Not all individuals with a mutation in the BSCL2 gene have these exact features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the BSCL2 gene.
Adolfo Lopez de Munain, MD, PhD, Neurology department, Donostia University Hospital, San Sebastian, Spain, ADOLFOJOSE.LOPEZDEMUNAINARREGUI@osakidetza.eus
Gorka Fernández-Eulate, MD, Reference centre for neuromuscular diseases Nord/Est/Ile-de-France, Pitié-Salpêtrière Hospital, Paris, France, firstname.lastname@example.org
Aurora Pujol, MD, PhD, Bellvitge Research Institute for Biomedical Research (IDIBELL), Barcelona, Spain, email@example.com