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. 2010 Dec 10;87(6):813–819. doi: 10.1016/j.ajhg.2010.10.015

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