Dataset related to article: IMPACT OF AGE ON NEUROFILAMENT LIGHT CHAIN IN FRIEDREICH ATAXIA: A 1-YEAR LONGITUDINAL STUDY

OUR DATABASE CONTAINS EPIDEMIOLOGICAL, CLINICAL AND LABORATORY INFORMATION ABOUT PATIENTS AND CONTROLS. EACH SUBJECT IS IDENTIFIED THROUGH AN ANONYMIZED ID. EACH INDIVIDUALS IS IDENTIFIED THROUGH AGE INTO ADULT OR CHILD, PATIENTS ARE APPROPRIATELY LABELED. SEX AT BIRTH IS ALSO INDICATED. FURTHER EPIDEMIOLOGICAL DATA AVAILABLE: BASELINE AND FOLLOW-UP DATES AND AGE AT BASELINE AND DISEASE ONSET, DISEASE DURATION. GENETIC DATA ABOUT GAA EXPANSION SIZE FOR EACH FXN ALLELE IS PROVIDED AND "MUT PUNT" IS APPLIED IN CASES OF COMPOUND HETEROZYGOSITY WITH A SINGLE NUCLEOTIDE VARIANT. CLINICAL DATA PROVIDED IS: SARA SCORE, MFARS, ADL AT BASELINE AND AT FOLLOW-UP. NEUROFILAMENT LIGHT CHAIN LEVELS ARE PROVIDED AT BASELINE AND AT FOLLOW UP, FRATAXIN GENE EXPRESSION IS CALCULATED THROUGH FXN MRNA LEVELS (NORMALIZED BY TBP EXPRESSION) AT BASELINE.