Movement disorders represent one of the less common presentations of cocaine toxicity observed in clinical practice. Given the magnitude of crack cocaine use, it is vital to understand the underlying pathogenesis. We present a case of a patient who clinically exhibited cocaine-induced choreoathetosis. The diagnosis was confirmed after ruling out all other organic causes of de novo choreoathetoi...

Lesch-Nyhan 증후군은 성염색체 열성 유전질환으로, 퓨린 (purine) 대사 과정중 구제 및 재순환에 관여하는 효소인 hypoxanthine-guanine phosphoribosyl transferase(HPRT)의 완 전 결핍으로 인한 고요산혈증, 무도성 무정위운동(choreoathetosis), 연축성(spasticity), 정신지체, 강박적인 자해 행위 등의 임 상 증상들을 특징으로 하는 대사 이상 질환이다 1) . 1964년 Lesch와 Nyhan 1) 에 의해 특징적인 상기 증상을 보인 형제의 증례가 처음 보고되었고, 1967년 Seegmiller 등 2) 에 의하 여 이 병의 원인이 효소 HPRT의 완전 결핍으로 인한 것임이 밝혀졌다. 이후 분자유전학 기술의 발달로 HPRT 유전자가...

Dr. Carlos Alexandre Twardowschy – Rua Dias da Rocha Filho 261 / 11 80040-050 Curitiba PR Brasil. E-mail: [email protected] In the past 10 years the armamentarium of antiepieleptic drugs (AEDs) has almost doubled. With some exceptions, movement disorders are relatively rare in patients using these drugs. In fact, they have become increasingly used to treat some types of movement disorders. ...

Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades. It is caused by an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the gene IT15 in locus 4p16.3. Juvenile HD that constitutes about 3% to 10% of all patients is clinically different fro...

Various neurologic manifestations of herpes simplex virus (HSV) encephalitis have been reported on the literatures. Chorea, ballism, choreoathetosis and myoclonus were reported as movement disorders which might be related with brain lesion by HSV encephalitis, but negative myoclonus (NM) has never been reported before. NM can be characterized as a shock-like involuntary jerky movement caused by...

Patients harboring A467T and W748S POLG1 mutations present with a broad variety of neurological phenotypes, including cerebellar ataxia, progressive external ophthalmoplegia (PEO), myoclonus, epilepsy, and peripheral neuropathy. With exception of ataxia and myoclonus, movement disorders are not typical features of POLG1 associated disorders. We report on two affected siblings compound heterozyg...