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FAT2-associated early-onset cerebellar ataxia: report of novel phenotype and variant
Rohan R Mahale1, Pramod K2, Shravan H2
1Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India. rohanmahale83@gmail.com.
Acta Neurologica Belgica
|July 29, 2026
Abstract:
SCA45/FAT2-associated late-onset cerebellar ataxia was reported in 2017 in 2 families with pure cerebellar syndrome with age of onset after 40 years of age. Similar few families with SCA45 have been reported so far. Hereby, we report a 25-year-old man presenting with pan-cerebellar syndrome noticed at an age of 22 years and had a novel missense variant in FAT2 gene.
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