Articles liés à X-linked Adrenoleukodystrophy

X-linked Adrenoleukodystrophy - Couverture souple

Stephane Savary (author) & Doriane Trumpier (author)

 
9781615045549: X-linked Adrenoleukodystrophy
Couverture souple
ISBN 10 : 1615045546 ISBN 13 : 9781615045549
Editeur : Morgan & Claypool Life Sciences, 2013

Synopsis

X-linked adrenoleukodystrophy (X-ALD) is the most common leukodystrophy and the most frequent peroxisomal disorder, with an estimated incidence of 1:17,000. This complex neurodegenerative disorder is characterized by a huge clinical variability both in the age of onset and in symptoms. The two main forms are the childhood cerebral ALD (ccALD) characterized by inflammatory demyelination of the central nervous system, and the adult form called adrenomyeloneuropathy (AMN), characterized by a non-inflammatory slowly progressive demyelination affecting spinal cord and peripheral nerves. Adrenal insufficiency is usually associated with the nervous symptoms, X-ALD being the main cause of Addison's disease. The main biochemical defect is the accumulation of very-long-chain fatty acids (VLCFA, fatty acids with a chain length of more than 22 carbon atoms), particularly in the cholesterol ester fraction of the adrenal gland and brain white matter. X-ALD is associated with mutations in the ABCD1 gene, which encodes for a peroxisomal ATPBinding Cassette (ABC) transporter predicted to allow VLCFA-CoA to enter into the peroxisome for their beta-oxidation. In spite of animal models, the physiopathogenesis of the disease remains poorly understood. However, several therapeutic strategies have been investigated. Among them, allogeneic bone marrow transplantation has proven effective and, more recently, the first gene therapy trial ended with a resounding success. Table of Contents: Historical Introduction / Clinical Description / Biochemistry / The ABCD1 Gene: Cloning, Evolution, Expression, Mutations, Function / Physiopathogenesis / Diagnosis / Therapeutic Strategies / Acknowledgments / References / Internet Resources / Author Biographies

Les informations fournies dans la section « Synopsis » peuvent faire référence à une autre édition de ce titre.

Présentation de l'éditeur

X-linked adrenoleukodystrophy (X-ALD) is the most common leukodystrophy and the most frequent peroxisomal disorder, with an estimated incidence of 1:17,000. This complex neurodegenerative disorder is characterized by a huge clinical variability both in the age of onset and in symptoms. The two main forms are the childhood cerebral ALD (ccALD) characterized by inflammatory demyelination of the central nervous system, and the adult form called adrenomyeloneuropathy (AMN), characterized by a non-inflammatory slowly progressive demyelination affecting spinal cord and peripheral nerves. Adrenal insufficiency is usually associated with the nervous symptoms, X-ALD being the main cause of Addison's disease. The main biochemical defect is the accumulation of very-long-chain fatty acids (VLCFA, fatty acids with a chain length of more than 22 carbon atoms), particularly in the cholesterol ester fraction of the adrenal gland and brain white matter. X-ALD is associated with mutations in the ABCD1 gene, which encodes for a peroxisomal ATPBinding Cassette (ABC) transporter predicted to allow VLCFA-CoA to enter into the peroxisome for their beta-oxidation. In spite of animal models, the physiopathogenesis of the disease remains poorly understood. However, several therapeutic strategies have been investigated. Among them, allogeneic bone marrow transplantation has proven effective and, more recently, the first gene therapy trial ended with a resounding success. Table of Contents: Historical Introduction / Clinical Description / Biochemistry / The ABCD1 Gene: Cloning, Evolution, Expression, Mutations, Function / Physiopathogenesis / Diagnosis / Therapeutic Strategies / Acknowledgments / References / Internet Resources / Author Biographies

Les informations fournies dans la section « A propos du livre » peuvent faire référence à une autre édition de ce titre.

Éditeur
Morgan & Claypool Life Sciences
Date d'édition
2013
Langue
anglais
ISBN 10 
1615045546
ISBN 13 
9781615045549
Reliure
Broché
Nombre de pages
134
Coordonnées du fabricant
non disponible
Personne responsable
non disponible