familial paroxysmal kinesigenic choreoathetosis
نویسندگان
چکیده
a 14-year old boy was presented with q rare form ofmovement-induced drop attacks, which was also present in his father. 17jis case was, therefore, labeled as familial paroxysmal kinesigenic choreoathetosis.
منابع مشابه
Focal paroxysmal kinesigenic choreoathetosis.
Three cases of paroxysmal kinesigenic choreoathetosis are described in whom unilateral attacks were focally induced, together with a case in whom bilateral attacks only occured. Treatment with phenytoin was effective in all cases. The aspects of the literature relating to focal and generalised attacks in paroxysmal kinesigenic choreoathetosis are reviewed.
متن کاملParoxysmal kinesigenic choreoathetosis in hyperthyroidism.
Paroxysmal kinesigenic choreoathetosis is an unusual movement disorder often triggered by attempts to use the limbs, and has sometimes been associated with diffuse or focal brain injury. We report its occurrence in hyperthyroidism, with which choreoathetosis has rarely been described in the past without known cause. Choreoathetosis has also occurred with other metabolic and toxic disorders, and...
متن کاملPreprogramming motor dysfunction in paroxysmal kinesigenic choreoathetosis.
Paroxysmal kinesigenic choreoathetosis (PKC) is characterized by abnormal involuntary movements precipitated by sudden movement. As a result, a possible impairment of cerebral organization of voluntary motor activity is hypothesized in PKC. We examined a 14-year-old boy affected by a sporadic form of PKC, adopting a multimodal psychophysiological approach, including P300, contingent negative va...
متن کاملParoxysmal dystonic choreoathetosis
A 30-year-old man with mild learning disability (IQ:72) and cerebral palsy with mild generalized choreoathetosis was referred with paroxysmal motor disorder and episodic depressive mood disorder. Aged 11 months, he had developed episodes of alternating flaccid hemiparesis followed by episodes when he was unable to move or talk but remaining conscious lasting from several minutes to longer. Epis...
متن کاملParoxysmal kinesigenic choreoathetosis. Report of a case relieved by L-dopa.
A case of paroxysmal kinesigenic choreoathetosis is described. A hitherto unreported response to l-dopa is recorded and its possible relevance to the pathophysiology of the disorder is discussed.
متن کاملTargeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis
BACKGROUND Paroxysmal kinesigenic choreoathetosis (PKC) is characterised by recurrent and brief attacks of involuntary movement, inherited as an autosomal dominant trait with incomplete penetrance. A PKC locus has been previously mapped to the pericentromeric region of chromosome 16 (16p11.2-q12.1), but the causative gene remains unidentified. METHODS/RESULTS Deep sequencing of this 30 Mb reg...
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عنوان ژورنال:
acta medica iranicaجلد ۳۳، شماره ۱-۲، صفحات ۶۱-۶۲
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