Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders

M. Di Rocco, A. Rossi, G. Parenti, A. E M Allegri, M. Filocamo, A. Pessagno, P. Tortori-Donati, C. Minetti, Roberta Biancheri

Research output: Contribution to journalArticle

Abstract

Hypomyelinating leukoencephalopathies may be related to a primary disturbance in the formation of myelin or may be caused by neuronal, oligodendrocytic or astrocytic dysfunction, leading to a failure of myelination. Abnormal myelination related to a direct metabolic damage on oligodendrocytes has been shown to occur in some animal models of lysosomal storage diseases. To demonstrate that cerebral white matter hypomyelination may occur also in humans affected by early-onset lysosomal storage diseases, we report three cases with infantile-onset lysosomal storage disorders (type 1 GM1 gangliosidosis, globoid cell leukodystrophy or Krabbe's disease, and type A Niemann-Pick disease) showing white matter hypomyelination. Hypomyelinating leukoencephalopathy may therefore represent a feature of lysosomal storage disorders with onset in the first months of life, when the process of myelination is particularly active, indicating that neuronal storage disorders may be primarily responsible for central nervous system hypomyelination.

Original languageEnglish
Pages (from-to)265-269
Number of pages5
JournalNeuropediatrics
Volume36
Issue number4
DOIs
Publication statusPublished - Aug 2005

Fingerprint

Globoid Cell Leukodystrophy
Lysosomal Storage Diseases
Leukoencephalopathies
Type A Niemann-Pick Disease
GM1 Gangliosidosis
Oligodendroglia
Myelin Sheath
Central Nervous System
Animal Models
White Matter

Keywords

  • Hypomyelination
  • Infancy
  • Lysosomal storage disorders

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders. / Di Rocco, M.; Rossi, A.; Parenti, G.; Allegri, A. E M; Filocamo, M.; Pessagno, A.; Tortori-Donati, P.; Minetti, C.; Biancheri, Roberta.

In: Neuropediatrics, Vol. 36, No. 4, 08.2005, p. 265-269.

Research output: Contribution to journalArticle

Di Rocco, M. ; Rossi, A. ; Parenti, G. ; Allegri, A. E M ; Filocamo, M. ; Pessagno, A. ; Tortori-Donati, P. ; Minetti, C. ; Biancheri, Roberta. / Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders. In: Neuropediatrics. 2005 ; Vol. 36, No. 4. pp. 265-269.
@article{9eb1a4c18d9744b3833b2c0c886e99c4,
title = "Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders",
abstract = "Hypomyelinating leukoencephalopathies may be related to a primary disturbance in the formation of myelin or may be caused by neuronal, oligodendrocytic or astrocytic dysfunction, leading to a failure of myelination. Abnormal myelination related to a direct metabolic damage on oligodendrocytes has been shown to occur in some animal models of lysosomal storage diseases. To demonstrate that cerebral white matter hypomyelination may occur also in humans affected by early-onset lysosomal storage diseases, we report three cases with infantile-onset lysosomal storage disorders (type 1 GM1 gangliosidosis, globoid cell leukodystrophy or Krabbe's disease, and type A Niemann-Pick disease) showing white matter hypomyelination. Hypomyelinating leukoencephalopathy may therefore represent a feature of lysosomal storage disorders with onset in the first months of life, when the process of myelination is particularly active, indicating that neuronal storage disorders may be primarily responsible for central nervous system hypomyelination.",
keywords = "Hypomyelination, Infancy, Lysosomal storage disorders",
author = "{Di Rocco}, M. and A. Rossi and G. Parenti and Allegri, {A. E M} and M. Filocamo and A. Pessagno and P. Tortori-Donati and C. Minetti and Roberta Biancheri",
year = "2005",
month = "8",
doi = "10.1055/s-2005-865863",
language = "English",
volume = "36",
pages = "265--269",
journal = "Neuropediatrics",
issn = "0174-304X",
publisher = "Hippokrates Verlag GmbH",
number = "4",

}

TY - JOUR

T1 - Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders

AU - Di Rocco, M.

AU - Rossi, A.

AU - Parenti, G.

AU - Allegri, A. E M

AU - Filocamo, M.

AU - Pessagno, A.

AU - Tortori-Donati, P.

AU - Minetti, C.

AU - Biancheri, Roberta

PY - 2005/8

Y1 - 2005/8

N2 - Hypomyelinating leukoencephalopathies may be related to a primary disturbance in the formation of myelin or may be caused by neuronal, oligodendrocytic or astrocytic dysfunction, leading to a failure of myelination. Abnormal myelination related to a direct metabolic damage on oligodendrocytes has been shown to occur in some animal models of lysosomal storage diseases. To demonstrate that cerebral white matter hypomyelination may occur also in humans affected by early-onset lysosomal storage diseases, we report three cases with infantile-onset lysosomal storage disorders (type 1 GM1 gangliosidosis, globoid cell leukodystrophy or Krabbe's disease, and type A Niemann-Pick disease) showing white matter hypomyelination. Hypomyelinating leukoencephalopathy may therefore represent a feature of lysosomal storage disorders with onset in the first months of life, when the process of myelination is particularly active, indicating that neuronal storage disorders may be primarily responsible for central nervous system hypomyelination.

AB - Hypomyelinating leukoencephalopathies may be related to a primary disturbance in the formation of myelin or may be caused by neuronal, oligodendrocytic or astrocytic dysfunction, leading to a failure of myelination. Abnormal myelination related to a direct metabolic damage on oligodendrocytes has been shown to occur in some animal models of lysosomal storage diseases. To demonstrate that cerebral white matter hypomyelination may occur also in humans affected by early-onset lysosomal storage diseases, we report three cases with infantile-onset lysosomal storage disorders (type 1 GM1 gangliosidosis, globoid cell leukodystrophy or Krabbe's disease, and type A Niemann-Pick disease) showing white matter hypomyelination. Hypomyelinating leukoencephalopathy may therefore represent a feature of lysosomal storage disorders with onset in the first months of life, when the process of myelination is particularly active, indicating that neuronal storage disorders may be primarily responsible for central nervous system hypomyelination.

KW - Hypomyelination

KW - Infancy

KW - Lysosomal storage disorders

UR - http://www.scopus.com/inward/record.url?scp=24744451950&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=24744451950&partnerID=8YFLogxK

U2 - 10.1055/s-2005-865863

DO - 10.1055/s-2005-865863

M3 - Article

C2 - 16138252

AN - SCOPUS:24744451950

VL - 36

SP - 265

EP - 269

JO - Neuropediatrics

JF - Neuropediatrics

SN - 0174-304X

IS - 4

ER -