Dystonic opisthotonus: A rare phenotype of adrenoleukodystrophy
نویسندگان
چکیده
منابع مشابه
Dystonic opisthotonus: A “red flag” for neurodegeneration with brain iron accumulation syndromes?
Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the phenotypic characterization of the dystonia has been lost. In evaluating patients with NBIAs in our centers, we have observed that action-indu...
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Strikingly variable clinical phenotypes can be found in X-linked adrenoleukodystrophy (X-ALD) even with the same ABCD1 mutation. ABCD2 is the closest homolog to ABCD1. Since ABCD2 overexpression complements the loss of ABCD1 in vivo and in vitro, we have investigated the possible role of the ABCD2 gene locus as determinant of X-ALD phenotypes. Sequence and segregation analysis of the ABCD2 gene...
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A case of opisthotonus following the use of the anaesthetic induction agent propofol is described. The patient was a woman with a known history of epilepsy. It is recommended that propofol should not be used in such patients.
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Opisthotonus is known to occur in tetanus, rabies, cerebral malaria, neurosyphilis, acute cerebral injury and other medical conditions. Opisthotonus, so far, has not been reported in any major psychiatric disorder. Authors report a case of recurrent opisthotonus presenting concurrently with other catatonic signs which showed dramatic response to combination of lorazepam and electroconvulsive th...
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ژورنال
عنوان ژورنال: Annals of Movement Disorders
سال: 2019
ISSN: 2590-3446
DOI: 10.4103/aomd.aomd_13_19