The main clinical symptoms included cerebellar ataxia (100%), peripheral neuropathy (94.6%), cerebellar atrophy (95.3%), elevated AFP concentration (92.0%), oculomotor apraxia (OMA) (34.1%) and pes cavus (34.3%), while dystonia (27.4%), head tremor (24.2%), chorea (14.3%) and cognitive impairment (9.5%) were less frequent (Figure 2B). Here, AFP is linked to Pes cavus.