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Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation
Author(s) -
Sekijima Yoshiki,
Hashimoto Takao,
Onodera Osam,
Date Hidetoshi,
Okano Tomomi,
Naito Kosuke,
Tsuji Shoji,
Ikeda Shuichi
Publication year - 2003
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10526
Subject(s) - dystonia , ataxia , basal ganglia , mutation , thalamus , apraxia , neurological disorder , neuroscience , medicine , physical medicine and rehabilitation , psychology , genetics , central nervous system disease , gene , biology , central nervous system , aphasia
A 14‐year‐old girl, homozygous for an insertion mutation of aprataxin ( APTX ), 689 ins T, is described. She presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia. The dystonia of this patient suggests involvement of the basal ganglia or thalamus, along with clinical diversity in this disorder. © 2003 Movement Disorder Society