Table 1 Clinical and genetic characteristics of the PKAN patients (P1, P2 and P3)
From: A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study
Patient ID | Sex | Age at onset (years) | Symptoms at base line | Score of UPDRS II at W0 | Score of UPDRS II at W24 | Baseline medication | Variants in PANK2 (change of nucleotide) | Change of amino acid |
|---|---|---|---|---|---|---|---|---|
P1 | F | 3 | Walking difficulty | 23 | 10 | Trihexylphenidyl hydrochloride, Bacoflen, Gabapentin | c.[1168-3C > G] c.[1263dupG] | Splicing defect p.Gln422Alafs*21 |
P2 | F | 14 | Distonic foot | 36 | 30 | Trihexylphenidyl hydrochloride, Bacoflen | c.[950G > C] c.[1231G > A] | p.Gly317Ala p.Gly411Arg |
P3 | M | 20 | Dystonia in lower limbs | 33 | 33 | Baclofen, Bideperiden Bromazepan | c.[965A > G] c.[1077G > C] | p.Glu322Gly p.Arg357Pro |