[Skip to Content]
Access to paid content on this site is currently suspended due to excessive activity being detected from your IP address 54.159.189.139. Please contact the publisher to request reinstatement.
[Skip to Content Landing]
Citations 0
Letters to the Editor
November 2002

Late-Onset Tay-Sachs Disease as a Friedreich Ataxia Phenocopy

Arch Neurol. 2002;59(11):1832. doi:

Lynch et al1 have written a lucid review of the genetic pathophysiologic characteristics of Friedreich ataxia and its clinical applications. In discussing the differential diagnosis of patients who have a Friedreich-like phenotype but no GAA expansion, they mention other genetic scenarios (2 individual point mutations or linkage to another genetic locus, FRDA2) and several overlapping conditions (ataxia with vitamin E deficiency, autosomal recessive spastic ataxia of Charlevoix-Saguenay, posterior column ataxia with retinal pigmentary changes, early-onset cerebellar atrophy with retained reflexes, complicated Charcot-Marie-Tooth disease, and other mitochondrial disorders). They neglect to mention the adult form of hexosaminidase A deficiency (late-onset Tay-Sachs disease), which is seen not just in the Ashkenazi Jewish population but also in French Canadians and others.

First Page Preview View Large
First page PDF preview
First page PDF preview
×