title: History, genetic, and recent advances on Krabbe disease.
abstract: Krabbe disease or globoid cell leukodystrophy is one of the classic genetic lysosomal storage diseases with autosomal recessive inheritance that affects both central and peripheral nervous systems in several species including humans, rhesus macaques, dogs, mice, and sheep. Since its identification in 1916, lots of scientific investigations were made to define the cause, to evaluate the molecular mechanisms of the damage and to develop more efficient therapies inducing clinical benefit and ameliorating the patients' quality of life. This manuscript gives a historical overview and summarizes the new recent findings about Krabbe disease. Human symptoms and phenotypes, gene encoding for β-galactocerebrosidase and encoded protein were described. Indications about the classical mutations were reported and some specific mutations in restricted geographical area, like the north of Catania City (Italy), were added. Briefly, here we present a mix of past and present investigations on Krabbe disease in order to update the knowledge on its genetic history and molecular mechanisms and to move new scientific investigations.
authors.affiliation: Department of Bio-Medical Science - Physiology Section, University of Catania, Catania, Italy. Electronic address: acegraz@unict.it.
authors.forename: Adriana Carol Eleonora
authors.initials: AC
authors.lastname: Graziano
authors.affiliation: Department of Bio-Medical Science - Physiology Section, University of Catania, Catania, Italy. Electronic address: cardile@unict.it.
authors.forename: Venera
authors.initials: V
authors.lastname: Cardile
mesh_terms: D000818:Animals; D049672:History, 19th Century; D049673:History, 20th Century; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics* / Q000266:history* / Q000503:physiopathology / Q000628:therapy
keywords: Globoid cell leukodystrophy; Lysosomal storage disease; Myelin; Sphingolipid; β-Galactocerebrosidase