Table 1 Genetic causes of ataxia in Finnish patients with ataxic disorders
From: Molecular epidemiology of hereditary ataxia in Finland
Gene | Inheritance | Mutations (Patient ID and repeat number when available) | Patients (N) |
|---|---|---|---|
ATXN8/OS | AD | trinucleotide repeat expansion (P1 118, P2 98, P3 139, P4 190, P5 90, P6 125, P7 90) | 7 |
CACNA1A | AD | c.3414dup p.Lys1139fs (P22), c.5629-2A > G15 (P23, P24) | 3 |
SAMD9L | AD | c.2672 T > C p.Ile891Thr | 1 |
FMRI | XLD | trinucleotide repeat expansion (P31 60) | 1 |
POLG | AR | c.2243C > G p.Trp748Ser/ c.2243C > G p.Trp748Ser | 6 |
RFC1 | AR | pentanucleotide repeat expansion AAGGGexp | 5 |
SACS | AR | [c.3298G > A p.Glu1100Lys; c.4466A > G, p.Asn1489Ser]/c.4076 T > C p.Met1359Thr14 | 3 |
FXN | AR | trinucleotide repeat expansion (P25 970/970) | 2 |
RARS2 | AR | c.773G > A p.Arg258His/p.Ala369fs | 1 |
ATM | AR | c.1813del p.His605fs/c.8672G > A p.Gly2891Asp | 1 |
MT-ATP6/8 | M | m.8561C > G | 2 |
mtDNA | de novo | mtDNA deletion 4.5 kb | 1 |
No genetic diagnosis | 63 | ||
Total | 96 |