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Methodological insights and clinical outcomes in ALS and FTLD: lessons from the SPIN cohort
Álvaro Carbayo1,2, Janina Turon-Sans1,2, Daniel Alcolea3,4
1Motor Neuron Disease Clinic, Neuromuscular Diseases Unit, Department of Neurology, IR Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Introduction:
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) constitute a clinico-genetic-neuropathological continuum with marked heterogeneity. Reliable in vivo biomarkers of the disease are lacking. Large, multimodal cohorts are needed to advance biomarker discovery and precision medicine.
Methods:
We describe the structure and results derived from the Sant Pau Initiative on Neurodegeneration (SPIN)-ALS-FTLD subcohort, a longitudinal, multimodal platform that integrates clinical, cognitive, genetic, biofluid, neuroimaging, and neuropathological data within a unified framework embedded in routine care.
Results:
The cohort includes over 1000 participants, 800 blood, 400 CSF, and 800 DNA samples, neuroimaging in over 250 cases, and 66 neuropathological studies. Harmonized longitudinal data and biospecimen collection have enabled substantial clinical, molecular, and translational research output.
Discussion:
SPIN-ALS-FTLD extends the original SPIN framework to the ALS-FTLD continuum, enabling deep phenotyping and multimodal biomarker discovery. This scalable model supports patient stratification, longitudinal monitoring, and the development of precision medicine approaches in neurodegenerative diseases.
