Table 1

 Clinical characteristics and smell test results of 16 patients with adult Refsum’s disease

PatientAge (years)Year of presentationMicrosmiaBone changesAtaxiaPhytanic acid (μmol/l)Smell test (/40)
PeakCurrent
1721989++6501012
2181998+++125253023
3411984+++107021724
4362001+++14313611
5501987+++53012323
6411987++198716016
7561970++28101011
8441986++9992311
9491986++56813615
10451986++101323214
11411986++131334413
12311990++268416612
13611987++10481015
14181997++4958
15751956++11724112
16302001++60834215