An unusual presentation of late-onset Alexander’s disease with slow orthostatic tremor and a novel GFAP variant

Autor:	Ralitza M Gavrilova, Anhar Hassan, Robert E. Watson, Derek Stitt
Rok vydání:	2018
Předmět:	0301 basic medicine Pathology medicine.medical_specialty Glial Fibrillary Acid Protein Late onset Disease 03 medical and health sciences 0302 clinical medicine Arts and Humanities (miscellaneous) Glial Fibrillary Acidic Protein Tremor medicine Humans Age of Onset Aged Orthostatic tremor medicine.diagnostic_test Electromyography business.industry Leukodystrophy Brain Magnetic resonance imaging medicine.disease Magnetic Resonance Imaging Alexander disease 030104 developmental biology nervous system Female Alexander Disease Neurology (clinical) Presentation (obstetrics) business 030217 neurology & neurosurgery
Zdroj:	Neurocase. 24:266-268
ISSN:	1465-3656 1355-4794
DOI:	10.1080/13554794.2019.1580749
Popis:	Alexander disease (AxD) is a leukodystrophy, described in infantile, juvenile and adult onset forms, due to mutations in the glial fibrillary acid protein (GFAP) gene. Adult-onset AxD (AOAD) has a range of clinical and radiographic phenotypes with the oldest reported onset in the seventh decade.We report a case of AOAD, with onset in the eighth decade, presenting with slow variant orthostatic tremor, which has not been previously described. Genetic analysis revealed a GFAP variant (c.1158CA) that has not been previously reported. Our case serves to expand the diagnostic spectrum of AOAD both clinically and genetically.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e65a1fe4ee2306a1e55d4d4e0a83713 https://doi.org/10.1080/13554794.2019.1580749 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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