X-linked adrenoleukodystrophy: Clinical course and minimal incidence in South Brazil

Jardim, Laura Bannach; Silva, Andrew Chaves Feitosa da; Blank, Deborah; Villanueva, Maria Mercedes; Renck, Luisa; Costa, Mariana La Bella; Vargas, Carmen Regla; Deon, Marion; Coelho, Daniel la M.; Vedolin, Leonardo; Castro, Cláudio Galvão de; Gregianin, Lauro José; Bonfim, Carmem; Giugliani, Roberto

doi:10.1016/j.braindev.2009.02.002

Cited by 18 publications

(27 citation statements)

References 16 publications

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“…Around 500 children with MPS-IH, 114 with MLD, and 465 with CALD underwent HSCT worldwide before 2012 11,12 . In the same period, South American HSCT procedures were described in seven CALD patients (the follow-ups of three of them were reported by Jardim et al 17 ), six MPS and one Gaucher disease type 1 25 . Our present report adds information about four new and three already-reported CALD patients, two new MLD, and two new MPS-IH patients, focusing on their neurological outcomes.…”

Section: Discussionmentioning

confidence: 94%

“…These diseases are associated with untreatable and progressive neurological impairment, leading to vegetative states and death 11,17,23,24 . Pathophysiology varies according to gene defect, and notable variability in age at onset and progression rate occurs in all them.…”

Section: Discussionmentioning

confidence: 99%

“…All procedures were covered by the Brazilian Unified Health System, and received the same level of health insurance. Three CALD patients have been reported previously 17 .…”

Section: Patients and Study Proceduresmentioning

confidence: 99%

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

Saute

Souza

Poswar

et al. 2016

Arq. Neuro-Psiquiatr.

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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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Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 99%

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

Saute

Souza

Poswar

et al. 2016

Arq. Neuro-Psiquiatr.

Self Cite

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“…Affected individuals may present with seven different clinical forms that are classified according to phenotypic expression and age at initial symptoms. Most frequent clinical phenotypes, accounting for 70-80% of the patients, include severe progressive, inflammatory, demyelinating childhood cerebral form (ccALD) and slowly progressive, noninflammatory, adult adrenomyeloneuropathy (AMN) affecting mainly peripheral nerves and spinal cord (Van Geel et al, 1997;Jardim et al, 2010;Kemp et al, 2001). Other less frequently occurring phenotypes include adolescent cerebral (AdolCALD), adult cerebral (acALD), olivopontocerebellar, addison-only and asymptomatic patients (Kemp et al, 2001).…”

Section: Introductionmentioning

confidence: 99%

Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient

Kallabi

Salem

Chehida

et al. 2015

Neuroscience Research

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“…The minimum estimated incidence in the U.S. ranges from 1:42,000 for homozygous males to 1:16,800 for both homozygous males and heterozygous females . In South Brazil, the minimum estimated incidence for homozygous males is 1:35,000 (Jardim et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family

Valadares

Trindade²,

Oliveira³

et al. 2011

Genet. Mol. Res.

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X-linked adrenoleukodystrophy: Clinical course and minimal incidence in South Brazil

Cited by 18 publications

References 16 publications

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

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

Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient

Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family

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