Re: Geo to Mark

[Guest guest]

Hello Mark im going to be moving to Florida and you'll need to find an Illinois

Agent for HSP Moving for health reasons GEO

Mark Weber wrote:X-linked adrenoleukodystrophy presenting

as autosomal

dominant pure hereditary spastic paraparesis.

Shaw- CJ, SJ, Reid E.

Department of Medical Genetics, University of

Cambridge, UK.

We present a family in which an initial clinical

diagnosis of autosomal dominant pure hereditary

spastic paraparesis (HSP) was made on the basis of a

three generation pedigree in which both males and

females presented with a spastic paraparesis.

Subsequent biochemical and genetic analysis revealed

that the family was in fact affected by the

adrenomyeloneuropathy subtype of X-linked

adrenoleukodystrophy. In the family described, both

males and females were affected by a spastic

paraparesis, and there was no male to male

transmission, consistent with both autosomal dominant

and X-linked inheritance. This report illustrates the

importance of assaying very long chain fatty acids

(VLCFAs) in any HSP family where there is no male to

male transmission.

SOURCE: J Neurol Neurosurg Psychiatry. 2004

May;75(5):686-8.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & list_uids=1\

5090559 & dopt=Abstract

NOTE that abnormal very long chain fatty acids are

indicative of adrenoleukodystrophy.