Table 2.
Demographic, clinical and mutation findings of selected index patients and their relatives
| Family ID |
Index Patient |
Age at Onset |
Age at Exam |
Sign at Onset |
Cerebellar Signs |
LL Pyramidal Signs |
Mental Retardation |
Imaging | Seizures | Progression | Coding Position |
Amino acid Change |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TUB 164-3 |
Yes | >25 | 43 | Ataxic gait | Yes | No | No | CCA | No | Yes | c.1259G>A | p.Arg420His |
| TUB 3-1 |
Yes | 42 | 66 | Ataxic gait and seizures |
Yes | Yes | No | CCA | No | Yes | c.1259G>A | p.Arg420His |
| TUB 3-3 | No | 28 | 31 | Ataxic gait | Yes | Yes | No | CCA | Yes | Yes | c.1259G>A | p.Arg420His |
| BOR 542-3 |
Yes | 51 | 57 | Ataxic gait | Yes | Yes | No | Vermian atrophy WM changes |
No | NA | c.1259G>A | p.Arg420His |
| SAL 289-6 |
Yes | Infancy | 47 | Motor delay with ataxic gait, falls, dysarthria, writing difficulties |
Yes | No | No | NA | No | Stable | c.1268G>A | p.Arg423His |
| AAD- SAL 289-12 |
No | 2 | 17 | Motor delay with ataxic gait and falls |
Yes | No | No | Normal (age 3) |
No | Stable | c.1268G>A | p.Arg423His |
| STR 198-14 |
Yes | Infancy | 3 | Ataxia | Yes | No | No | NA | No | NA | c.1268G>A | p.Arg423His |
| STR 198-10 |
No | 3 | 33 | Motor delay with ataxic gait, dysarthria |
Yes | Yes | No | NA | No | Stable | c.1268G>A | p.Arg423His |
Nucleotide numbering for cDNA –based nomenclature uses 1+ as to the A of the ATG translation initiation codon in GenBank RefSeq NM_004977.2 according to journal guidelines. (www.hgvs.org/mutnomen). The initiation codon is codon 1. RefSeq NG_008134.1, NP_004968.2.