Niemann-Pick type C disease: Effects of a therapy with acetyl-DL-leucine and vestibular function
نویسندگان
چکیده
منابع مشابه
Effects of acetyl-DL-leucine in vestibular patients: a clinical study following neurotomy and labyrinthectomy.
For 40 years, the amino acid acetyl-DL-leucine (or isoleucine - Tanganil) has been used in clinical practice to reduce imbalance and autonomic manifestations associated with acute vertigo crises. In animal models, acetyl-DL-leucine accelerates vestibular compensation following unilateral labyrinthectomy, and has only minor effects on normal vestibular function. Our work in animal models suggest...
متن کاملبررسی یک مورد بیماری Niemann Pick تیپ A
Niemann Pick type A is a very rare hereditary disease with an incidence 1 in 20000-40000 live birth, which is calassified as a shingolipidoses. The disease is marked by the abnormal accumulation of sphingomyelin in most tissues, secondary to sphingomylinase deficiency. The most clinical manifestations are: Splenohepatomegaly–cherry red maculae-neuropathologic findings . This is a ...
متن کاملAberrant Promoter Methylation Profile of Niemann-Pick Type C1 Gene in Cardiovascular Disease
Background: The protein of Niemann-pick type C1 (NPC1) gene promotes the egress of cholesterol from late endosomes and lysosomes to other cellular compartments and contributes to a process known as reverse cholesterol transport. This study aimed to examine whether promoter methylation of NPC1 is associated with risk of cardiovascular disease (CVD). Methods: Fifty CVD patients and 50 healthy sub...
متن کاملNiemann Peak Disease Type A in Necropsy of the Liver of a Four-Month-Old Female with Fe-ver and Pancytopenia
Niemann-pick disease is a severe disorder in sphingolipid metabolism and esterification of cholesterol which results in accumulations of sphingomyelin in different tissues. This disease is characterized with hepatosplenomegaly, fever and foam cell appearance in microscopic examination of bone marrow, liver and spleen. The case presented in this study is a four-month-old female infant with chief...
متن کاملUse of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report
UNLABELLED INTRODUCTION Niemann-Pick disease type C is a rare genetic lysosomal storage disease associated with impaired intracellular lipid trafficking and a range of progressive neurological manifestations. The influence of seizure activity on disease course and response to miglustat therapy is not currently clear. CASE PRESENTATION Niemann-Pick disease type C homozygous for NPC1 mutatio...
متن کامل