Genetics and Environment iNtersection In the ALS-FTD Spectrum: an Italian Twins Cohort studY With a Multi-Omics Approach

Summary

The goal of this study is to learn from discordant twins affected by Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia the contribution of genetic background versus environmental exposure. The main questions it aims to answer is: * How far does the genetic background explain the onset of ALS/FTD in discordant twins? * Which environmental factors and events occurring in post-fetal life influence the onset or progression of this neurodegenerative condition? Participants with ALS and/or FTD with a monozygotic or dizygotic twin willing to contribute to this research will be followed up for two years by specialized Motor Neuron Disorders centers in Italy, donating biological specimen for -omic sciences analysis, and checking out if prodromal signs/symptoms of these two conditions will develop during time.

Eligibility

Inclusion Criteria:

* Age \>18 yrs
* Presence of MZ or DZ twins in the family both willing to participate in the study and able to provide informed consent
* At least one twin is affected by ALS as defined by Gold Coast Criteria (Shefner et al., 2020) and/or by FTD as defined by Strong and colleagues (Strong et al., 2017)
* Subjects able and willing to comply with study procedures as per protocol
* Subjects able to understand, and capable of providing informed consent at screening visit before any protocol-specific procedures

Exclusion Criteria:

* Unwillingness to perform assessments as stated in the protocol at least during baseline visit for both twins
* Unwillingness to donate biological samples collected at periphery (lumbar puncture excluded) for both twins
* Women who are pregnant or breastfeeding

Conditions3

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