PMC:4375449 / 18032-19748 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4375449","sourcedb":"PMC","sourceid":"4375449","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4375449","text":"Table 1 Clinical, Biochemical, and Imaging Features of the Individuals Carrying PNKP Mutations\nFamily 1 Family 2 Family 3 Family 4 Family 5 Family 6 Family 7 Family 8\nP1 P2 P3 P4 P5 P6 P7 P8 P9 P10 P11\nConsanguinity − yes − − yes yes yes −\nGender male female female female male female female female male female male\nAge at onset (years) 5 9 6 3 1 3 4 4 7 2 3\nFirst sign dystonia dystonia dystonia ataxia dystonia ataxia ataxia OMA OMA dystonia dystonia\nMore prominent sign neurop. neurop. neurop. neurop. neurop. neurop. neurop. neurop. neurop. neurop. neurop.\nOMA +++ +++ + ++ + + ++ +++ +++ +++ +++\nAge in wheelchair (years) 18 22 18 20 NA 15 25 15 14 20 15\nDystonia + + + + ++ + − − − ++ ++\nCognitive impairment + + ++ + NA − − − + ++ +\nMotor deficit +++ ++ +++ +++ +++ +++ +++ +++ +++ +++ +++\nDecreased vibration sense ++ + NA ++ NA ++ +++ ++ ++ NA ++\nPyramidal signs − − + − − − − − − + −\nObesity − − + + − − + − − ++ −\nMRI findings CA CA CA CA CA CA CA CA CA CA CA\nOther features BSA BSA dem. NA NA NA NA NA NA dem. BSA\nα-fetoprotein levels 1.5 N 1.5 N 1.5 N N N 1.5 N 4 N N N N N\nAlbumin levels N N ↓ ↓ ↓ ↓ N NA NA ↓ ↓\nCholesterol levels N N N ↑ ↑ N ↑ NA NA ↑ ↑\nAbbreviations 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., 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