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

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

Index: Brain Dev. 32(3) , 180-90, (2010)

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Abstract

X-linked adenoleukodystrophy is a genetic disease that affects the degradation of very long-chain fatty acids. In male patients, common pictures are the cerebral form (CALD), myeloneuropathy (AMN), and Addison-only.To describe the clinical course of affected male patients from South Brazil between 1993 and 2007.Affected male patients and their maternal lineages were studied from a clinical, neurological and biochemical standpoint.Eighty-three male patients from 30 families were biochemically evaluated: 51 were affected. 27/51 (54%) presented the cerebral form; 11/51 had AMN (22%); 5 had Addison-only (10%), and 8 (16%) were asymptomatic. Between 2002 and 2006, the minimal incidence was 1:35,000 males in our State (South Brazil). Forty-three affected individuals were followed for 5.4+/-3.7 years. Of 10 boys detected at early stages, three developed CALD. These three boys and another five CALD at baseline were referred to hematopoietic stem cell transplantation. Seven transplants were carried out, 5 with good clinical evolution after 2.2 years post-transplant. The non-transplanted case was later defined as a stable cerebral form.Among the present families, the observed cases were comparable to the 50% expected by Mendelian segregation. Based on the natural history, the number of cases that developed CALD was similar to the expected. Transplants were successful in 70% of cases. The occurrence of a stable cerebral form pointed to an urgent need for better markers of active cerebral disease.