Long-term Stabilization After Bone Marrow Transplantation in Juvenile Metachromatic Leukodystrophy

Kidd, Desmond P.; Nelson, J.; Jones, Franca; Dusoir, H.; Wallace, Ian; McKinstry, Steven; Patterson, Virginia T.

doi:10.1001/archneur.55.1.98

Cited by 54 publications

(29 citation statements)

References 6 publications

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“…The positive influence of HSCT in a transplanted MLD patient to a non-transplanted sibling has been reported earlier. 22 However, substantial variation of phenotype among patients with the same genotype is well known, and may occur even in affected individuals of the same family. 23,24 Therefore, comparing the index patient not only with affected family members, but also with a cohort of untransplanted MLD patients with standardized and validated tools is necessary to substantiate individual findings and evaluate treatment effectiveness.…”

Section: Discussionmentioning

confidence: 99%

Juvenile metachromatic leukodystrophy 10 years post transplant compared with a non-transplanted cohort

Krägeloh‐Mann

Groeschel

Kehrer

et al. 2012

Bone Marrow Transplant

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Metachromatic leukodystrophy (MLD) is a rare inborn error of metabolism leading to severe neurological symptoms and early death. Hematopoietic SCT (HSCT) is considered a treatment option, but results are inconsistent and comparison with natural history is practically missing. We compare a girl with juvenile MLD 10 years after allogeneic HSCT not only with her untreated sister, but also with a large cohort of untreated patients. The girl received HSCT at the age of 5 years when first motor signs appeared. Over 10 years she was stable with respect to her clinical course and gained cognitive abilities. Magnetic resonance imaging (MRI) showed clear regression of white matter changes and magnetic resonance spectroscopy (MRS) demonstrated a reversal of the initial choline increase and N-acetyl-aspartate (NAA) decrease. Only axonal demyelinating neuropathy showed some progression. Her gross motor function and MRI-scores were clearly better compared with her sister and the cohort of untreated patients. Difference to her sister became apparent only 4 years after HSCT. We conclude that HSCT, early in the course of disease, can lead to stabilization of juvenile MLD with a course clearly different from the natural history. HSCT may prevent disease progression, if performed sufficient time before loss of walking, which typically initiates rapid deterioration.

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Section: Discussionmentioning

confidence: 99%

Juvenile metachromatic leukodystrophy 10 years post transplant compared with a non-transplanted cohort

Krägeloh‐Mann

Groeschel

Kehrer

et al. 2012

Bone Marrow Transplant

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“…1). The only treatment which can be proposed to date is bone marrow transplantation, with few successes obtained in late-onset forms of the disease (Kidd et al 1998). Diagnosis of metachromatic leukodystrophy is based on the measurement of ARSA activity on leukocytes.…”

Section: Metachromatic Leukodystrophymentioning

confidence: 99%

Leukoencephalopathies associated with inborn errors of metabolism in adults

Sedel

Tourbah

Fontaine

et al. 2008

J of Inher Metab Disea

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The discovery of a leukoencephalopathy is a frequent situation in neurological practice and the diagnostic approach is often difficult given the numerous possible aetiologies, which include multiple acquired causes and genetic diseases including inborn errors of metabolism (IEMs). It is now clear that IEMs can have their clinical onset from early infancy until late adulthood. These diseases are particularly important to recognize because specific treatments often exist. In this review, illustrated by personal observations, we give an overview of late-onset leukoencephalopathies caused by IEMs.

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“…En concordance avec la littérature, la greffe n'a pas d'effet sur les valvulopathies, les complications ORL ou la cyphoscoliose. La croissance staturo-pondérale est satisfaisante pour ces six patients et, selon les études, devrait continuer de manière linéaire pendant les cinq à six ans après la greffe pour ralentir par la suite chez 30 à 40 % des patients avant le début de la puberté [8,21].…”

Section: Discussionunclassified

“…Cette aggravation des déficits moteurs après la greffe (spasticité et ataxie) est aussi rapportée dans la littérature [2,[21][22][23]. L'efficacité de la greffe de CSH sur l'amélioration de cette maladie est ainsi très débattue [24].…”

Section: Discussionunclassified