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The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome

Saute, Jonas Alex Morales, Souza, Carolina Fischinger Moura de, Poswar, Fabiano de Oliveira, Donis, Karina Carvalho, Campos, Lillian Gonçalves, Deyl, Adriana Vanessa Santini, Burin, Maira Graeff, Vargas, Carmen Regla, Matte, Ursula da Silveira, Giugliani, Roberto, Saraiva-Pereira, Maria Luiza, Vedolin, Leonardo Modesti, Gregianin, Lauro José, Jardim, Laura Bannach·2016·Arquivos de Neuro-Psiquiatria
DOI 10.1590/0004-282x20160155
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Abstract

ABSTRACT Hematopoietic stem cell transplantation (HSCT) is the only available treatment for the neurological involvement of disorders such as late-onset metachromatic leukodystrophy (MLD), mucopolysaccharidosis type I-Hurler (MPS-IH), and X-linked cerebral adrenoleukodystrophy (CALD). Objective To describe survival and neurological outcomes after HSCT for these disorders. Methods Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5/6 CALD, 1/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT. Conclusion Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.

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Figures

Figure 1 Loes score progression of seven CALD patients before and after HSCT. Individual dots indicate when brain magnetic resonance imaging was performed. The first MRI was the image obtained at the time of HSCT indication. Time zero (continuous line) indicates when HSCT was performed. The 12-month interval (dotted line) indicates the time window for efficacy.
Figure 1 Loes score progression of seven CALD patients before and after HSCT. Individual dots indicate when brain magnetic resonance imaging was performed. The first MRI was the image obtained at the time of HSCT indication. Time zero (continuous line) indicates when HSCT was performed. The 12-month interval (dotted line) indicates the time window for efficacy.CC-BY · From the PDF
Figure 2 Brain FLAIR axial magnetic resonance images (MRI) of MPS-IH-10 patient. (A and B) MRI before HSCT. Hyperintensity lesions were mainly found in the periventricular and deep white matter (WM) (arrow). There was also mild ventricular enlargement. (C and D) MRI obtained three years after HSCT. Significant reduction of hyperintensities in the WM (arrow). The mild ventricular enlargement was smaller than before HSCT.
Figure 2 Brain FLAIR axial magnetic resonance images (MRI) of MPS-IH-10 patient. (A and B) MRI before HSCT. Hyperintensity lesions were mainly found in the periventricular and deep white matter (WM) (arrow). There was also mild ventricular enlargement. (C and D) MRI obtained three years after HSCT. Significant reduction of hyperintensities in the WM (arrow). The mild ventricular enlargement was smaller than before HSCT.CC-BY · From the PDF
Figure 3 Brain FLAIR axial magnetic resonance images (MRI) of the transplanted patient MLD-8b and her non-transplanted brother MLD-8a. A, B and C. FLAIR axial MRIs from MLD-8a (non-tranplanted) patient. Images show hyperintense lesions diffusely distributed in the frontal, temporal, parietal and occipital white matter (WM) and in genu and splenium of the corpus callosum at 9 (A), 10 (B) and 12 years of age (C). There was a progressive worsening of brain atrophy during the follow up. White arrows highlight the progressive atrophy of the splenium of corpus callosum. D, E, F and G. FLAIR axial MRIs from MLD-8b patient show WM lesions distributed in the frontal, parietal and occipital lobes at 8 (D), 9 (E) (immediately before HSCT), 11 (F) and 13 years of age (G). Hyperintensities on the splenium of corpus callosum worsened until HSCT, with stabilization thereafter. The Eichler score was the same at 11 (F), 13 (G) and 14 years of age (image not shown).
Figure 3 Brain FLAIR axial magnetic resonance images (MRI) of the transplanted patient MLD-8b and her non-transplanted brother MLD-8a. A, B and C. FLAIR axial MRIs from MLD-8a (non-tranplanted) patient. Images show hyperintense lesions diffusely distributed in the frontal, temporal, parietal and occipital white matter (WM) and in genu and splenium of the corpus callosum at 9 (A), 10 (B) and 12 years of age (C). There was a progressive worsening of brain atrophy during the follow up. White arrows highlight the progressive atrophy of the splenium of corpus callosum. D, E, F and G. FLAIR axial MRIs from MLD-8b patient show WM lesions distributed in the frontal, parietal and occipital lobes at 8 (D), 9 (E) (immediately before HSCT), 11 (F) and 13 years of age (G). Hyperintensities on the splenium of corpus callosum worsened until HSCT, with stabilization thereafter. The Eichler score was the same at 11 (F), 13 (G) and 14 years of age (image not shown).CC-BY · From the PDF
Figure 4 Pedigree of MLD-9 family. Proband is indicated with a black arrow. Squares indicate males and circle, females; dark fill indicates affected individuals. Arylsulfatase A (ARSA) activity in leukocytes (normal range: 5-20 nmol/hg/mg protein), urinary sulfatides , and ARSA genotypes are depicted for MLD-9 patient (V:14 individual), his parents IV:11 and IV:12, and his brother and bone marrow donor, V:13. Gene sequencing detected p.P426L as the pathogenic mutation in homozygosis in MLD-9 (V:14); both parents (IV:11 and IV:12) carried this mutation (were heterozygous), as expected. In addition, father (IV:11) and brother (V:13) were carriers of the variant associated with ARSA pseudodeficiency, c.1524+96A>G.
Figure 4 Pedigree of MLD-9 family. Proband is indicated with a black arrow. Squares indicate males and circle, females; dark fill indicates affected individuals. Arylsulfatase A (ARSA) activity in leukocytes (normal range: 5-20 nmol/hg/mg protein), urinary sulfatides , and ARSA genotypes are depicted for MLD-9 patient (V:14 individual), his parents IV:11 and IV:12, and his brother and bone marrow donor, V:13. Gene sequencing detected p.P426L as the pathogenic mutation in homozygosis in MLD-9 (V:14); both parents (IV:11 and IV:12) carried this mutation (were heterozygous), as expected. In addition, father (IV:11) and brother (V:13) were carriers of the variant associated with ARSA pseudodeficiency, c.1524+96A>G.CC-BY · From the PDF

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  1. Moser HW, 1991, Measurement of saturated very long chain fatty acid in plasma, 177

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Metadata

Authors
Saute, J. A. M., Souza, C. F. M. D., Poswar, F. D. O., Donis, K. C., Campos, L. G., Deyl, A. V. S., Burin, M. G., Vargas, C. R., Matte, U. D. S., Giugliani, R., Saraiva-Pereira, M. L., Vedolin, L. M., Gregianin, L. J., & Jardim, L. B.
Affiliations
  • Hospital de Clínicas de Porto Alegre, Brasil; Hospital de Clínicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil
  • Hospital de Clínicas de Porto Alegre, Brasil
  • Universidade Federal do Rio Grande do Sul, Brasil
  • Hospital de Clínicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil
  • Universidade Federal do Rio Grande do Sul, Brasil; Hospital de Clínicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil
  • Hospital de Clínicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil; Universidade Federal do Rio Grande do Sul, Brasil; Universidade Federal do Rio Grande do Sul, Brasil; Hospital de Clínicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil
  • Hospital de Clínicas de Porto Alegre, Brasil; Hospital de Clínicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil; Universidade Federal do Rio Grande do Sul, Brasil
  • Hospital de Clínicas de Porto Alegre, Brasil; Hospital de Clínicas de Porto Alegre, Brasil; Universidade Federal do Rio Grande do Sul, Brasil; Universidade Federal do Rio Grande do Sul, Brasil; Universidade Federal do Rio Grande do Sul, Brasil; Universidade Federal do Rio Grande do Sul, Brasil
Venue
Arquivos de Neuro-Psiquiatria
Publisher
FapUNIFESP (SciELO)
Published
2016-12
Volume
74
Issue
12
Pages
953-966
ISSN
0004-282X
DOI
10.1590/0004-282x20160155
Cited by
16
References
35

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