Table 1  Clinical, Biochemical, and Imaging Features of the Individuals Carrying PNKP Mutations
Family 1   Family 2   Family 3   Family 4   Family 5   Family 6   Family 7   Family 8
P1   P2   P3   P4   P5   P6   P7   P8   P9   P10   P11
Consanguinity  −  yes  −  −  yes  yes  yes  −
Gender  male  female  female  female  male  female  female  female  male  female  male
Age at onset (years)  5  9  6  3  1  3  4  4  7  2  3
First sign  dystonia  dystonia  dystonia  ataxia  dystonia  ataxia  ataxia  OMA  OMA  dystonia  dystonia
More prominent sign  neurop.  neurop.  neurop.  neurop.  neurop.  neurop.  neurop.  neurop.  neurop.  neurop.  neurop.
OMA  +++  +++  +  ++  +  +  ++  +++  +++  +++  +++
Age in wheelchair (years)  18  22  18  20  NA  15  25  15  14  20  15
Dystonia  +  +  +  +  ++  +  −  −  −  ++  ++
Cognitive impairment  +  +  ++  +  NA  −  −  −  +  ++  +
Motor deficit  +++  ++  +++  +++  +++  +++  +++  +++  +++  +++  +++
Decreased vibration sense  ++  +  NA  ++  NA  ++  +++  ++  ++  NA  ++
Pyramidal signs  −  −  +  −  −  −  −  −  −  +  −
Obesity  −  −  +  +  −  −  +  −  −  ++  −
MRI findings  CA  CA  CA  CA  CA  CA  CA  CA  CA  CA  CA
Other features  BSA  BSA  dem.  NA  NA  NA  NA  NA  NA  dem.  BSA
α-fetoprotein levels  1.5 N  1.5 N  1.5 N  N  N  1.5 N  4 N  N  N  N  N
Albumin levels  N  N  ↓  ↓  ↓  ↓  N  NA  NA  ↓  ↓
Cholesterol levels  N  N  N  ↑  ↑  N  ↑  NA  NA  ↑  ↑
Abbreviations and symbols are as follows: P1–P11, individuals 1–11, respectively; +, present; ++, moderate; +++, severe; −, absent; ↑, increased level; ↓, decreased level; N, normal level; NA, not available; CA, cerebellar atrophy; BSA, brainstem atrophy; OMA, oculomotor apraxia; neurop., neuropathy; dem., dementia.