Skip to main content

Table 2 Summary of the results

From: Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

Result # (%)
Age of onset 3-4 years (8/18; 45%)
Consanguinity 17/18 (95%)
One tribe 13/18 (72%)
Saudi 18/18 (100%)
c.1264 A>G (p.T422A) mutation in exon 5 of SLC19A3 gene 15/15 (100%)
SAE, ataxia triggered by febrile illness 18/18 (100%)
Seizure 13/18 (72%)
Mild-moderate neurological deficit mainly speech and motor 6/18 (33%)
Normal 6/18 (33%)
Spastic quadriplegic 2/18 (11%)
Death 4/18 (22%)
\