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FARAFARA Cure FA

Intraepidermal Nerve Fiber Density in Friedreich's Ataxia

FRDA affects primarily the peripheral nervous system (PNS) with cumulative evidence suggesting that there may be a developmental component of its pathology. In this study, the authors aimed at gaining further insight in the PNS involvement in FRDA by investigating small nerve fibers in patients. They evaluated the intraepidermal nerve fiber (IENF) density in skin-biopsies of the lower leg, and applied clinical assessments of small fiber function in 17 FRDA patients. Mean IENF density was significantly lower in FRDAs compared to controls. Clinically, cold detection threshold was decreased in FRDAs while other measures of small fiber function such as warm and pain sensation thresholds did not differ from controls. Five patients had sensory complaints, but none was diagnosed with neuropathic pain. The degree of small fiber loss was markedly variable in this cohort and showed an inverse correlation with the GAA repeat length. These findings support a genetically determined small fiber loss in FRDA

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Jane Larkindale

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