Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease

Sara Massucco, Mehrnaz Hamedani, Marta Ponzano, Riccardo Manca, Edoardo Roveta, Anna Pichiecchio, Carlo Asteggiano, Federico Zaottini, Maria João Malaquias, Riccardo Currò, Matteo Pardini, Angelo Schenone, Federico Massa, Andrea Cortese, Marina Grandis · 2026

Read Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease by Sara Massucco, Mehrnaz Hamedani, Marta Ponzano, Riccardo Manca, Edoardo Roveta, Anna Pichiecchio, Carlo Asteggiano, Federico Zaottini, Maria João Malaquias, Riccardo Currò, Matteo Pardini, Angelo Schenone, Federico Massa, Andrea Cortese, Marina Grandis (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13156962.txt.

Description

Sara Massucco and co-authors review a gene based nerve disease in a 2026 paper. Faults in the RFC1 gene cause a syndrome of poor balance, nerve loss, and lost reflexes. New reports hint the disease reaches far more body systems than first thought.

The team searched three data bases for all reports on gene proven cases. They pooled rates of weak motor nerves, odd movement signs, and thinking flaws. Case level data were drawn from papers and, when needed, from authors. The pooled view maps how wide RFC1 disease runs. That map helps doctors know what to check when the gene fault is found.

Catalog record

CREATORSara Massucco, Mehrnaz Hamedani, Marta Ponzano, Riccardo Manca, Edoardo Roveta, Anna Pichiecchio, Carlo Asteggiano, Federico Zaottini, Maria João Malaquias, Riccardo Currò, Matteo Pardini, Angelo Schenone, Federico Massa, Andrea Cortese, Marina Grandis
YEAR2026
COLLECTIONPAPERS
FORMATTXT
FILE SIZE45 KB
VERSION1.0
LICENSECC BY 4.0
RIGHTSCC BY
SOURCEEurope PMC

Source: https://europepmc.org/articles/PMC13156962

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