Table.
Patient Gene/Mutationa | Initial Clinical Presentation | Initial Diagnosisb | 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 |