Clinical and pathology characterization of small nerve fibers neuro(no)pathy in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome.

Matteo TagliapietraAlex IncensiMoreno FerrariniNazarena MesianoAlessandro Furia Giovanni Rizzo Rocco LiguoriTiziana CavallaroSalvatore MonacoGian Maria FabriziVincenzo Donadio

Published in: European journal of neurology (2023)

RFC1-disease is characterized by a severe and widespread somatic SFN. Skin denervation may potentially represent the earliest feature and drive towards the suspicion of this disorder.

Keyphrases

early onset
machine learning
deep learning
soft tissue
case report
copy number
hearing loss
gene expression
dna methylation