کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3087230 1190064 2011 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
La maladie de Niemann-Pick de type C
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی عصب شناسی
پیش نمایش صفحه اول مقاله
La maladie de Niemann-Pick de type C
چکیده انگلیسی
Niemann-Pick disease type C is a lysosomal storage disease transmitted by recessive autosomal inheritance related to an accumulation of non-esterified cholesterol. Two genes, NPC1 and NPC2 coding for intracellular cholesterol transport proteins are involved. Adult forms are rare, but probably underdiagnosed. The most common inaugural signs include psychiatric disorders, cerebellous ataxia, cognitive impairment and, more rarely, epilepsia or abnormal movements. Nearly three-quarters of patients developed vertical supranuclear ophthalmoplegia, an element strongly favoring diagnosis. Hepatosplenomegalia is rare in adults and adolescents. The diagnosis is based on the Filipine test conducted on cultured fibroblasts, which demonstrates perinuclear vesicles filled with cholesterol. Treatment is symptomatic. Miglustat can be prescribed to stabilize or retard the inevitable progression.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pratique Neurologique - FMC - Volume 2, Issue 4, December 2011, Pages 229-236
نویسندگان
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