History of ALD 2


Timeline

 

1910 : X-linked ALD was not first cilinically described by Haberfield and Spieler. A healthy 6-year-old boy began showing symptoms such as hyperpigmentation, impaired vision and loss of mobility and speaking abilities. Eight months after being hospitalized at the age of 7, he died. His brother suffered simliar symtpoms and died at the age of 8. An examination of the brain showed changes in brain matter had occured.

 

1923 : A similar case was reported by Siemerling and Creutzfeldt.

 

1963 :  Nine similar cases were reported in only males, hinting at X-linked recessive inheritance.

 

1970 : Disease is recognized as adrenoleukodystrophy.

 

1981 : The X-ALD locus was mapped to the terminal segment of the long arm of the X-chromosome, Xq28.

 

1984 : Lorenzo Odone was diagnosed with ALD. Research for a cure subsequently began and the disease was brought to the public's attention. [1]

 

1993 : The gene ABCD 1 was identified as the carrier of X-ALD.

 

1999 : The X-ALD database was started allowing for the detection of the disease-causing mutations.

[2] 

 

Footnotes

  1. Kuglar, Mary. "What is Lorenzo's Oil?." About.com: Rare Diseases. 2009. Web. 1 Nov 2009. .
  2. Kemp, Stephan, Marc Engelan, and Paul Watkins. "Historical Overview of Adrenoleukodystrophy." X-ALD. 03 Mar 2009 . Web. 1 Nov 2009. .