Wednesday, February 24, 2016

Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling

Dorota Hoffman-Zacharska , Tomasz Mazurczak, Tomasz Zajkowski, Renata Tataj, Paulina Górka-Skoczylas, Katarzyna Połatyńska, Łukasz Kępczyński, Mariusz Stasiołek, Jerzy Bal; Journal of Applied Genetics
pp 1-7 DOI:10.1007/s13353-015-0331-4 First online: 23 February 2016

Routine FRDA molecular diagnostics is focused on (GAA)n expansion analysis. Additional tests are considered only in cases of heterozygous expansion carriers and an atypical clinical picture. Analyses of the parent’s carrier status, together with diagnostic tests, are performed in rare cases.

Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich’s Ataxia

Laura Ludovica Gramegna, Caterina Tonon , David Neil Manners, Antonella Pini, Rita Rinaldi, Stefano Zanigni, Claudio Bianchini, Stefania Evangelisti, Filippo Fortuna, Valerio Carelli, Claudia Testa, Raffaele Lodi; The Cerebellum pp 1-7, First online: 20 February 2016 DOI: 10.1007/s12311-016-0767-z

The correlation between NAA/Cr and the severity of disability suggests that this biochemical in vivo MR parameter might be a useful biomarker to evaluate therapeutic interventions.