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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%)