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 beta-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. (C) 2014 Elsevier B.V. All rights reserved.

History, genetic, and recent advances on Krabbe disease

Graziano, A. C. E.
;
2015-01-01

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 beta-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. (C) 2014 Elsevier B.V. All rights reserved.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11387/163513
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