. Author manuscript; available in PMC: 2014 Mar 1.

Published in final edited form as: J Neurol. 2013 Jan 25;260(3):927–928. doi: 10.1007/s00415-012-6830-x

Table.

Patient Gene/Mutation^a	Initial Clinical Presentation	Initial Diagnosis^b	MSA Progressive Clinical Features	MSA-Atypical Progressive Clinical Features
PDYN chr20:1961320 C>A p.R138S	Cerebellar ataxia Urinary urgency Urinary frequency Erectile dysfunction	MSA-C (possible)	Cerebellar ataxia	None
TGM6 chr20:2,397,971– 2,397,981del p.Gly477Ala fs*2	Parkinsonism Urinary urgency Urinary frequency	MSA-P (possible)	Parkinsonism Cerebellar ataxia	Cognitive impairment Brother with PSP phenotype
FMR1 109 CGG repeats (normal 5–44)	Cerebellar ataxia Urinary incontinence Brain MRI with cerebellar atrophy	MSA-C (possible)	Parkinsonism	Cognitive impairment Brain MRI with T2-weighted hyperintensities in middle cerebellar peduncles

PDYN patient previously reported [4] and included here for comparison.

Based on Gilman et al. criteria. [5]