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J Neurol (2013) 260:14081409 DOI 10.1007/s00415-013-6874-6
LETTER TO THE EDITORS
Very late-onset Friedreich ataxia: later than life expectancy?
Vincent Alvarez Pierre Arnold Thierry Kuntzer
Received: 5 December 2012 / Revised: 8 February 2013 / Accepted: 11 February 2013 / Published online: 22 February 2013 Springer-Verlag Berlin Heidelberg 2013
Dear Sirs,
Friedreich ataxia (FA) is an autosomal-recessive hereditary ataxia with a prevalence of around 1 case per 30,000. It is a severely debilitating disease characterized by progressive gait and limb ataxia, dysarthria, lower-limb areexia, muscular weakness and pyramidal signs, and is due to GAA triplet expansion in the frataxin (FXN) gene located on chromosome 9q13 [1]. Patients usually begin the disorder at puberty or before the age of 25 years in most studies, but rare cases of Late-Onset Friedreich ataxia (LOFA) have been described. LOFA patients were recognized to have a median age of onset of 28.8 years (range of25.548), have a milder phenotype and often retained lower limb reexes [2, 3]. Very lateOnset Friedreich ataxia (VLOFA) has also been reported [4, 5], with the rst manifestations appearing in the seventies.
Here we report an 82-year-old lady who presented with...