TUBB4A and Dystonia: Point mutations in the TUBB4a gene, which encodes a member of the beta-tubulin family that is brain specific and/or highly expressed in the brain, lead to hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC [OMIM ID 612438]: p.Asp249Asn) [41], dystonia (DYT4 [OMIM ID 128101]: p.Arg2Gly or p.Ala271Thr) [42], isolated hypomyelination (p.Val255Ile and p.Arg282Pro) [41], and early infantile encephalopathy (p.Asn414Lys) [43].