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Basic and Clinical Neuroscience، جلد ۱۳، شماره ۲، صفحات ۰-۰
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عنوان انگلیسی Psychiatric onset Alexander disease: an important challenge in neuropsychiatric diagnosis
چکیده انگلیسی مقاله Introduction: Alexander disease is a heterogenous group of diseases with various manifestations based on age of disease onset. This rare leukodystrophy syndrome with mutations in GFAP Gene could present with developmental delay and seizure in infantile form to ataxia and bulbar palsy in adulthood. However psychiatric symptoms are not well-defined and usually evaluate after disease diagnosis not before disease investigations. Case report: Our patient is a fifty-two-year-old Iranian woman with history of depression from about 17 years ago, suicidal attempt two years ago and ingestion a large amount of opium with the intention of suicide 2 months ago who was presented with disorientation and probably delirious state in the last interview. Eventually in comprehensive investigations, white matter hyperintensity and leukodystrophy was diagnosed and ultimately to determine the cause of these changes with gene study, whole Exon deletion of GFAP Gene and Late Onset Alexander disease was determined. Conclusion: Neurological-onset manifestation of Alexander disease specifically late onset form is the most common clinical picture of disease and was seen in about 90% of patients but psychiatric symptoms are not well-known and psychiatric- onset disease was not described yet. On the other hand, various Gene Mutation were described in Late Onset Alexander Disease, however large whole Exon deletion which was revealed in our patient is a novel mutation and significantly need to be declared. Here authors describe a late onset Alexander disease with psychiatric onset symptoms and novel large Exon deletion in GFAP Gene.  
کلیدواژه‌های انگلیسی مقاله Alexander Disease, Late -Onset, GFAP mutation, Psychiatric symptoms, Leukodystrophy
نویسندگان مقاله | Hedieh Arshiany
Department of Psychiatry, Roozbeh Hospital, Tehran University of Medical Sciences, Tehran, Iran.


| Behzad Ezzatian
School of Allied Medical Sciences, Tehran University of Medical Sciences, Tehran, Iran.


| Valentin Artounian
Department of Psychiatry, Roozbeh Hospital, Tehran University of medical Sciences, Tehran, Iran.


| Fatemeh Alizadeh
Department of Genomic Psychiatry and Behavioral Genomics, Roozbeh Hospital, Tehran University of Medical Sciences, Tehran, Iran.


| Fatemeh Mohammadian
Department of Psychiatry, Roozbeh Hospital, Tehran University of Medical Sciences, Tehran, Iran.
نشانی اینترنتی http://bcn.iums.ac.ir/browse.php?a_code=A-10-1551-1&slc_lang=en&sid=1
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زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Clinical Neuroscience
نوع مقاله منتشر شده News and Reports
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