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. 2013 Jun 16;22(21):4329–4338. doi: 10.1093/hmg/ddt282

Table 1.

Summary of clinical findings

Ocular Saccadic pursuit, gaze-evoked nystagmus
Bulbar Dysarthria
Upper limb Ataxia
Lower limbs Pes cavus
Distal weakness and atrophy
Brisk knee jerks
Absent ankle jerks
Upgoing plantar reflexes
Distal sensory loss to pp and JPS
Gait Ataxic, scissoring

Findings in both patients were very similar. pp, pinprick sensation; JPS, joint position sense.