Table 1.
Early onset ataxia (EOA) patient information.
| Case | Age of Onset (Year) | Duration (Full Years) | Age at Assessment (Year) | Gene Name * | Mutation Type | Neurological Diagnosis |
|---|---|---|---|---|---|---|
| 1 | 0 | 14 | 14 | RELN | VUS | cerebel cort dyspl, hypopl pons |
| 2 | 0 | 17 | 17 | LAMA1A | MM | Poretti Boltzhausen syndrome |
| 3 | 0 | 13 | 13 | - | - | Dandy Walker malformation |
| 4 | 0 | 14 | 14 | Unknown | - | Unknown |
| 5 | 0 | 9 | 9 | SOX 10 | MM | Shah-Waardenburg syndrome |
| 6 | 0 | 22 | 22 | CHD7 | MM | CHARGE Syndrome |
| 7 | 7 | 6 | 14 | Unknown | - | Unknown |
| 8 | 0 | 7 | 7 | KIAA0586 | MM | Joubert Syndrome 23 |
| 9 | 11 | 0 | 11 | - | - | Cediak Higashi |
| 10 | 0 | 12 | 12 | SPTBN2 | Del, MM | SCA5 |
| 11 | 3 | 7 | 11 | Unknown | - | Unknown |
| 12 | 2 | 8 | 10 | FXN | GAArepeat | Friedreich’s ataxia |
| 13 | 0 | 10 | 10 | CTNNB1-gen | MM | AD MR 19 |
| 14 | 0 | 8 | 9 | KCNC3 | MM | SCA13 |
| 15 | 0 | 9 | 10 | Unknown | - | Unknown |
| 16 | 1 | 7 | 8 | HSD17B10 | MM | MHBD-deficiency |
| 17 | 4 | 5 | 9 | FXN | GAA repeat | Friedreich’s ataxia |
| 18 | 3 | 4 | 7 | EBF3 mutation | MM | HADDS syndrome |
| 19 | 4 | 1 | 5 | FXN | GAA repeat | Friedreich’s ataxia |
| 20 | 0 | 0 | 1 | INPPE5 | MM | Joubert syndrome type 1 |
| 21 | 14 | 1 | 16 | Unknown | - | Unknown |
| 22 | 5 | 6 | 11 | GOSR2 | MM | Northsea progr myocl |
| 23 | 2 | 4 | 6 | Unknown | - | Unknown |
| 24 | 0 | 5 | 5 | Unknown | - | Unknown |
| 25 | 2 | 8 | 10 | Unknown | - | Unknown |
| 26 | 13 | 2 | 15 | CACNA1A | MM | Episodic Ataxia type 2 |
| 27 | 4 | 7 | 11 | FXN | GAA repeat | Friedreich’s ataxia |
| 28 | 2 | 5 | 7 | KCND3 | MM | SCA19 |
| 29 | 6 | 8 | 14 | CACNA1A | MM | Episodic Ataxia type 2 |
| 30 | 1 | 2 | 3 | CAMTA1 | MM | CAMTA1 |
| 31 | 0 | 13 | 13 | Unknown | - | Unknown |
| 32 | 2 | 7 | 9 | TITF1 | MM | Benign Hereditary Chorea |
| 33 | 4 | 2 | 6 | ZMYND11 | MM | AD, MR type 30 |
| 34 | 1 | 12 | 13 | ITPR1 | MM | SCA 29 |
| 35 | 3 | 9 | 12 | ITPR1 | MM | SCA29 |
| 36 | 4 | 11 | 15 | ITPR1 | MM | SCA29 |
| 37 | 12 | 0 | 12 | Unknown | - | Unknown |
| 38 | 1 | 1 | 2 | Unknown | - | Unknown |
| 39 | 6 | 3 | 9 | SPTBN2 | Del, MM | SCA5 |
| 40 | 1 | 7 | 8 | ATP1A3 | MM | RDP-AHC-Atax |
| 41 | 2 | 5 | 8 | ATP1A3 | MM | AHC |
| 42 | 9 | 23 | 32 | TTPA | MM | AVED |
| 43 | 4 | 11 | 15 | FXN | GAA repeat | Friedreich’s Ataxia |
| 44 | 12 | 3 | 15 | NPC | MM | Niemann Pick |
| 45 | 12 | 22 | 34 | TTPA | MM | AVED |
| 46 | 1 | 25 | 26 | T8993G | MM | NARP |
| 47 | 16 | 11 | 28 | TTPA | MM | AVED |
| 48 | 5 | 11 | 16 | HTT | CAG repeat | Juvenile Huntington |
| 49 | 1 | 18 | 19 | ATM | MM | Ataxia Telangiectasia |
| 50 | 5 | 3 | 8 | FXN | GAA repeat | Friedreich’s Ataxia |
| 51 | 0 | 5 | 5 | - | - | cong malf fossa pos |
| 52 | 11 | 6 | 18 | mtDNA | MM | Kearns Sayre Syndrome |
| 53 | 10 | 2 | 13 | FXN | GAA repeat | Friedreich’s ataxia |
| 54 | 14 | 3 | 18 | SPG-11 | MM | HSP |
| 55 | 1 | 17 | 18 | GOSR2 | MM | Northsea progr myocl |
| 56 | 2 | 23 | 25 | GOSR2 | MM | Northsea progr myocl |
| 57 | 0 | 6 | 6 | Unknown | - | Unknown |
| 58 | 3 | 13 | 16 | CACNA1A | CAG repeat | Episodic Ataxia type 1 |
| 59 | 0 | 15 | 15 | KIAA0586 | MM | Joubert Syndrome 23 |
| 60 | 3 | 3 | 6 | GOSR2 | MM | Northsea progr myocl |
| 61 | 3 | 13 | 16 | CACNA1A | CAG repeat | Episodic Ataxia type 1 |
| 62 | 13 | 9 | 22 | TTPA | MM | AVED |
| 63 | 2 | 0 | 3 | GOSR2 | MM | Northsea progr myocl |
| 64 | 2 | 18 | 20 | GOSR2 | MM | Northsea progr myocl |
| 65 | 2 | 1 | 3 | ALDH3A2 | MM | SjogrenLarsson |
| 66 | 8 | 5 | 13 | SPG11 | MM | Spastic paraplegia 11 |
| 67 | 6 | 13 | 19 | FXN | GAA repeat | Friedreich’s Ataxia |
| 68 | 7 | 14 | 21 | FXN | GAA repeat | Friedreich’s Ataxia |
| 69 | 9 | 13 | 22 | FXN | GAA repeat | Friedreich’s Ataxia |
| 70 | 6 | 10 | 17 | FXN | GAA repeat | Friedreich’s Ataxia |
| 71 | 4 | 10 | 14 | FXN | GAA repeat | Friedreich’s Ataxia |
| 72 | 5 | 7 | 12 | FXN | GAA repeat | Friedreich’s Ataxia |
| 73 | 2 | 9 | 11 | TUBB2A | MM | CDCBM5 |
| 74 | 1 | 1 | 3 | ATP1A3 | MM | FIPWE |
| 75 | 1 | 11 | 12 | CACNA1A | CAG repeat | Episodic Ataxia type 2 |
| 76 | 7 | 5 | 12 | ATXN7 | CAG repeat | SCA7 |
| 77 | 15 | 0 | 16 | SLC2A1 gen | MM | Glut-1 def |
| 78 | 0 | 3 | 3 | Unknown | - | Unknown |
| 79 | 5 | 4 | 9 | FXN | GAA repeat | Friedreich’s ataxia |
| 80 | 6 | 10 | 16 | FXN | GAA repeat | Friedreich’s Ataxia |
Gene name * = gene name, mutations are specified in the Suppl. Table S1; cerebel cort dyspl = cerebellar cortical hypoplasia; hypopl = hypolasia; VUS = variant of unknown significance; MM = missense mutation; MHBD = 2-methyl-3-hydroxybutyryl-CoA-hydrogenase deficiency, HADDS = hypotonie; ataxie and delayed development syndrome; RDP-AHC-Atax = disease continuum of rapid onset parkinsonism (RDP); alternating hemiplegia of childhood (AHC); ataxia AVED = Ataxia with isolated vitamin E deficiency; NARP = neuropathy; ataxia and retinitis pigmentosa; cong malf fossa pos = congenital malformation fossa posterior; CDCBM5 = cortical dysplasia, complex, with other brain malformations; FIPWE = fever-induced paroxysmal weakness and encephalopathy.