PT  - JOURNAL ARTICLE
AU  - Reetz, Kathrin
AU  - Dogan, Imis
AU  - Hohenfeld, Christian
AU  - Didszun, Claire
AU  - Giunti, Paola
AU  - Mariotti, Caterina
AU  - Durr, Alexandra
AU  - Boesch, Sylvia
AU  - Klopstock, Thomas
AU  - Rodríguez de Rivera Garrido, Francisco Javier
AU  - Schöls, Ludger
AU  - Giordano, Ilaria
AU  - Bürk, Katrin
AU  - Pandolfo, Massimo
AU  - Schulz, Jörg B.
AU  - the EFACTS Study Group
TI  - Nonataxia symptoms in Friedreich Ataxia
AID  - 10.1212/WNL.0000000000006121
DP  - 2018 Sep 04
TA  - Neurology
PG  - e917--e930
VI  - 91
IP  - 10
4099  - http://n.neurology.org/content/91/10/e917.short
4100  - http://n.neurology.org/content/91/10/e917.full
SO  - Neurology2018 Sep 04; 91
AB  - Objective To provide a systematic evaluation of the broad clinical variability in Friedreich ataxia (FRDA), a multisystem disorder presenting mainly with afferent ataxia but also a complex phenotype of nonataxia symptoms.Methods From the large database of the European Friedreich’s Ataxia Consortium for Translational Studies, 650 patients with genetically confirmed FRDA were included. Detailed data of medical history documentation, questionnaires, and reports on clinical features were analyzed to provide in-depth description of the clinical profile and frequency rates of phenotypical features with a focus on differences between typical-onset and late-onset FRDA. Logistic regression modeling was used to identify predictors for the presence of the most common clinical features.Results The most frequent clinical features beyond afferent ataxia were abnormal eye movements (90.5%), scoliosis (73.5%), deformities of the feet (58.8%), urinary dysfunction (42.8%), cardiomyopathy and cardiac hypertrophy (40.3%), followed by decreased visual acuity (36.8%); less frequent features were, among others, depression (14.1%) and diabetes (7.1%). Most of these features were more common in the typical-onset group compared to the late-onset group. Logistic regression models for the presence of these symptoms demonstrated the predictive value of GAA repeat length on the shorter allele and age at onset, but also severity of ataxia signs, sex, and presence of neonatal problems.Conclusions This joint European effort demonstrates the multisystem nature of this neurodegenerative disease encompassing most the central nervous, neuromuscular, cardiologic, and sensory systems. A distinct and deeper knowledge of this rare and chronic disease is highly relevant for clinical practice and designs of clinical trials.CI=confidence interval; CRF=case report form; EFACTS=European Friedreich’s Ataxia Consortium for Translational Studies; FRDA=Friedreich ataxia; HbA1c=glycated hemoglobin A1c; ICD-10=International Classification of Diseases, Tenth Revision; INAS=Inventory of Non-Ataxia Signs; OR=odds ratio; SARA=Scale for the Assessment and Rating of Ataxia; SCAFI=Spinocerebellar Ataxia Functional Index; |Std.Res.|=standardized residuals