Table 1.
Clinical summary of patients 1 and 2 reported in this study and the previously reported patients carrying pathogenic ANO10 mutations
| Ref | Age of onset (years) | Country of origin | Genotype | Gait ataxia | Dysarthria | Limb ataxia | Cortico-spinal tract | MRI | Opthalmologic features | EMG | Mental retardation | Other features |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 6 | 25 | Netherlands | c.1529T>G; p.Leu510Arg | ++ | ++ | ++ | ↑DTR EPR | CA | Downbeat nys | II MU involvement | – | Cold and blue toes |
| 6 | 20 | Netherlands | c.1529T>G; p.Leu510Arg | ++ | ++ | ++ | ↑DTR | CA | Downbeat nys | II MU involvement | – | Wasting and fasciculations proximal leg muscles |
| 6 | 32 | Netherlands | c.1529T>G; p.Leu510Arg | + | + | + | ↑DTR | CA | Downbeat nys | NP | – | Cold and blue toes |
| 6 | 15 | Serbia | c.1150_1151del; p.Leu384 fs | ++ | ++ | + | ↑DTR | CA | Hor and ver nys | NP | + | Inspiratory stridor |
| 6 | 15 | Serbia | c.1150_1151del; p.Leu384 fs | ++ | + | + | ↑DTR | CA | Hor and ver nys | NP | + | Pes cavus |
| 6 | 13 | Serbia | c.1150_1151del; p.Leu384 fs | ++ | ++ | + | ↑DTR | CA | Hor nys | II MU involvement | – | Fasciculations proximal leg muscles, inspiratory stridor, vocal cord paresis |
| 6 | 45 | France |
c.1476 + 1G>T c.1640del; p.Leu535* |
+++ | ++ | ++ | ↑DTR | NP | Saccadic pursuit, nys | NP | – | Rest tremor, pes cavus |
| 6 | 25 | France |
c.1476 + 1G>T c.1640del; p.Leu535* |
++ | ++ | ++ | ↑DTR | CA | Multi-dir nys | Normal | – | Episodic diplopia, pes cavus |
| 8 | 16 | Bulgaria | c.1150_1151del; p.Leu384 fs | +++ | ++ | + | ↑DTR | NP | Hor and ver nys | NP | – | NR |
| 8 | 17 | Bulgaria | c.1150_1151del; p.Leu384 fs | ++ | ++ | + | ↑DTR EPR | CA | Downbeat nys | II MU involvement | + | NR |
| 8 | 17 | Bulgaria | c.1150_1151del; p.Leu384 fs | ++ | ++ | + | ↑DTR | NP | Downbeat nys | Normal | + | NR |
| 9 | 46 | Japan | c.609C>G; p.Tyr203* | ++ | ++ | NA | ↑DTR | Mild CA | Saccadic pursuit | Normal | – | Seizures, constipation |
| P1 (this paper) | 7 | United Kingdom |
c.132_133insT; p.Asp45Argfs c.1843G>A; p.Asp615Asn |
+++ | ++ | ++ | Normal | Parieto-occipital, CA | Saccadic pursuit | Normal | + | Seizures, Low CoQ10 in muscle |
| P2 (this paper) | 30 | United States |
c.132_133insT; p.Asp45Argfs c.1315G>T; p.Glu382* |
++ | ++ | ++ | ↑DTR Hoffman sign | Marked CA | Downbeat nys | Normal | – | Retinal degen, cataract, low CoQ10 in blood and CSF |
Ref reference, Age of onset (years), MRI magnetic resonance imaging, + Mild, ++ Moderate,+++ Severe, ↑ increased, DTR deep tendon reflexes, EPR extension plantar reflex, NP not preformed, hor horizontal, ver vertical, nys nystagmus, Multi-dir multi-directional, MU motor unit, NA not available, CoQ10 coenzyme Q10, CSF cerebral spinal fluid