Monday, March 19, 2012

Spinocerebellar ataxia type 6 autopsy photographs

On the left is the brain of an 82-year-old patient with a diagnosis of spincocerebellar ataxia, type 6 (SCA6). On the right is the brain of a 96-year-old "control" patient with Alzheimer disease:
Note comparative diminution of the cerebellum in the SCA6 patient.  Here's a closer look at the cerebellum:
SCA6 is one several autosomal dominant cerebellar ataxias. SCA6 results from a CAG trinucleotide repeat expansion in the CACNA1A gene on chromosome 19p.

3 comments:

Forensic Pathology Blog said...

Cool case!

Anonymous said...

Very intersting case. Have you considered making such diagnostic diamonds available for use in Wikipedia? We share images of rare disease on Wikimedia Commons...

All the best from Germany, Martin

http://commons.wikimedia.org/wiki/File:Alexander_autopsy.jpg?uselang=de

Brian E. Moore, MD said...

Hadn't thought of that, Martin. Feel free to use any original photos like these from my blog to post on Wikipedia.

I uploaded this:
http://commons.wikimedia.org/wiki/File:Sca6_cerebellum.jpg

I hope I did it properly as I've never done this before.

Best,
Brian