Onset features and time to diagnosis in Friedreich's Ataxia.

Elisabetta IndelicatoWolfgang NachbauerAndreas EigentlerMatthias AmprosiRaffaella Matteucci GothePaola GiuntiCaterina MariottiJavier ArpaAlexandra DurrThomas KlopstockLudger SchölsIlaria GiordanoKatrin BürkMassimo PandolfoClaire DidszdunJörg B SchulzSylvia Boeschnull null

Published in: Orphanet journal of rare diseases (2020)

In the genetic era, presentation with non-neurological features or in the adulthood still leads to a significant diagnostic delay in FRDA. Well-known correlations between GAA1 repeat length and disease milestones are not valid in case of atypical presentations or positive family history.

Keyphrases

depressive symptoms
early onset
gene expression
copy number
dna methylation
cerebral ischemia