کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8683457 1579801 2016 21 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
The first report of CADASIL in Peru: Olfactory dysfunction on initial presentation
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی سیستم های درون ریز و اتونومیک
پیش نمایش صفحه اول مقاله
The first report of CADASIL in Peru: Olfactory dysfunction on initial presentation
چکیده انگلیسی
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare, heritable, small vessel vascular disease caused by mutations in the Notch3 gene that is characterized by migraines, subcortical vascular events, cognitive decline, and mood disturbances. However, many CADASIL cases present with unusual symptoms such as status epilepticus, a movement disorder, or sensory dysfunction. This study describes the clinical, genetic, and radiologic characteristics of a Peruvian family with CADASIL in which multiple family members presented with severe olfactory deficits. Seven members of the family have symptoms suggestive of CADASIL, with genetic testing revealing R133C mutations in the two patients who underwent genetic testing. Cognitive testing and olfactory identification testing (Smell Identification Test) were performed in three CADASIL patients revealing total anosmia in two tested patients and severe hyposmia in the other. Olfactory dysfunction has been associated with various neurologic and psychiatric conditions, though few studies have linked it with neurovascular disorders such as CADASIL. This first reported case of CADASIL in Peru emphasizes that symptomatic olfactory dysfunction may be an unusual presentation of CADASIL and that olfactory dysfunction is important to evaluate in CADASIL patients.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: eNeurologicalSci - Volume 5, December 2016, Pages 15-19
نویسندگان
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