نتایج جستجو برای: choreoathetosis

تعداد نتایج: 1147  

Journal: :Open access Journal of Neurology & Neurosurgery 2017

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1973

2011
Dong-Seok Oh Eun-Seon Park Seong-Min Choi Byeong-Chae Kim Myeong-Kyu Kim Ki-Hyun Cho

Huntington's disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene. Typical age at onset of symptoms is in the 40s, but the disorder can manifest at any time. Late-onset (≥ 60 years) HD is clinically different from other adult or juvenile onset HD an...

2014
D. Koc P. Imer Y. Bayri A. Seker

Pantothenatekinase-associated neurodegeneration is a rare progressive disorder characterized by dystonia, rigidity, choreoathetosis and mental deterioration. Patients requiring general anesthesia with this syndrome may have many anesthesia-relevant symptoms that influence the preanesthetic management, the induction of anesthesia and the postoperative care. In this case report, we present the an...

Journal: :Epileptic disorders : international epilepsy journal with videotape 2010
Jacques Rochette Patrice Roll Ying-Hui Fu Anne Gaëlle Lemoing Barbara Royer Agathe Roubertie Patrick Berquin Jacques Motte Sau Wei Wong Alasdair Hunter Andrée Robaglia-Schlupp Louis J Ptacek Pierre Szepetowski

Epilepsy and paroxysmal dyskinesia are two episodic cerebral disorders that can share a common genetic basis. Rare families with infantile seizures and paroxysmal dyskinesia [predominantly paroxysmal kinesigenic dyskinesia (PKD)], co-inherited as a single autosomal dominant trait, have been described (infantile convulsions with paroxysmal choreoathetosis; ICCA syndrome) and a disease gene has b...

2011
KV Vinod S Giridharan TK Dutta

Hallervorden-Spatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with dystonia, dysarthria, rigidity and choreoathetosis. Here we present an unusual case of atypical Hallervorden-Spatz syndrome with onset during adolescence and rapid progression in a young female patient who showed the characteristic "eye of the ti...

Journal: :American journal of human genetics 2016
Marianna Madeo Michelle Stewart Yuyang Sun Nadia Sahir Sarah Wiethoff Indra Chandrasekar Anna Yarrow Jill A Rosenfeld Yaping Yang Dawn Cordeiro Elizabeth M McCormick Colleen C Muraresku Tyler N Jepperson Lauren J McBeth Mohammed Zain Seidahmed Heba Y El Khashab Muddathir Hamad Hamid Azzedine Karl Clark Silvia Corrochano Sara Wells Mariet W Elting Marjan M Weiss Sabrina Burn Angela Myers Megan Landsverk Patricia L Crotwell Quinten Waisfisz Nicole I Wolf Patrick M Nolan Sergio Padilla-Lopez Henry Houlden Richard Lifton Shrikant Mane Brij B Singh Marni J Falk Saadet Mercimek-Mahmutoglu Kaya Bilguvar Mustafa A Salih Abraham Acevedo-Arozena Michael C Kruer

Glutamatergic neurotransmission governs excitatory signaling in the mammalian brain, and abnormalities of glutamate signaling have been shown to contribute to both epilepsy and hyperkinetic movement disorders. The etiology of many severe childhood movement disorders and epilepsies remains uncharacterized. We describe a neurological disorder with epilepsy and prominent choreoathetosis caused by ...

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