Table 1.
Clinical Features of Patients with Recessive Cerebellar Ataxia and Mutations in ANO10
Patient | A:VII.1 | A:VII.2 | A:VII.3 | B:II.3 | B:II.4 | B:II.5 | C:II.1 | C:II.3 |
---|---|---|---|---|---|---|---|---|
Age | 50 | 48 | 47 | 42 | 39 | 35 | 60 | 55 |
Sex | M | M | F | F | F | M | F | F |
Age at onset (yrs) | 25 | 20 | 32 | 15 | 15 | 13 | 45 | 25 |
Age at assessment | 50 | 48 | 47 | 42 | 39 | 35 | 57 | 49 |
Mental retardation | no | no | no | yes (mild) | yes (moderate) | no | no | no |
Ocular pursuit | downbeat nystagmus | downbeat nystagmus | downbeat nystagmus | horizontal and vertical nystagmus | horizontal and vertical nystagmus | horizontal nystagmus | saccadic pursuit, nystagmus | multidirectional nystagmus |
Saccades | hypermetric | hypermetric, slow (vertical) | hypermetric | hypermetric, mild | no | hypermetric, mild | no | slow saccades |
Cerebellar dysarthria | moderate | moderate | mild | moderate | mild | moderate | moderate | moderate |
Gait ataxia | moderate | moderate | mild | moderate | moderate | moderate | severe | moderate |
Appendicular ataxia | moderate | moderate | mild | mild | mild | mild | moderate | moderate |
Tendon reflexes: UL | increased | increased | increased | increased | increased | increased triceps | increased | increased |
Tendon reflexes: LL (knee) | increased | increased | increased | increased | increased | increased | increased | increased |
Tendon reflexes: LL (ankle) | increased | normal | increased | increased | normal | normal | increased | increased |
Plantar responses | extensor | normal | normal | normal | normal | normal | normal | normal/Babinski |
Other features | cold and blue toes | wasting and fasciculations proximal leg muscles, cold and blue fingers and toes | cold and blue fingers and toes | inspiratory stridor | pes cavus | fasciculations leg muscles. inspiratory stridor and vocal cord paresis | mild lower limb spasticity, slight rest tremor, pes cavus | episodic diplopia, pes cavus |
EMG | motor neuron involvement | motor neuron involvement | not done | not done | not done | motor neuron involvement | not done | normal |
Cerebellar atrophy seen on MRI or CT | severe | severe | severe | severe | severe | severe | not done | severe |
Tortuosity of conjunctival vessels | absent | absent | absent | present | present | present | absent | absent |