Hyposmia and cognitive impairment in Gaucher disease patients and carriers
نویسندگان
چکیده
منابع مشابه
Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers
The objective of this study was to assess a cohort of Gaucher disease patients and their heterozygous carrier relatives for potential clinical signs of early neurodegeneration. Gaucher disease patients (n = 30), heterozygous glucocerebrosidase mutation carriers (n = 30), and mutation-negative controls matched by age, sex, and ethnicity (n = 30) were recruited. Assessment was done for olfactory ...
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OBJECTIVE Hyposmia is one of the earliest non-motor features of Parkinson's disease (PD) and can precede the onset of motor symptoms by years. Most of the current olfactory detection tests are targeted at Western populations. The exact relationship between hyposmia and cognitive impairment is unknown. The purpose of the study was to find bromines that can effectively identify olfactory dysfunct...
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An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed c...
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how to cite this article: mozafari h, taghikhani m, khatami sh, alaei mr, vaisi-raygani a, rahimi z. chitotriosidase activity and gene polymorphism in iranian patients with gaucher disease and sibling carriers. iran j child neurol. autumn 2016; 10(4):62-70. abstract objective chitotriosidase (ct) activity is a useful biomarker for diagnosis and monitoring of gaucher disease (gd). its applicatio...
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ژورنال
عنوان ژورنال: Movement Disorders
سال: 2012
ISSN: 0885-3185,1531-8257
DOI: 10.1002/mds.24945