Lipid imbalance in the neurological disorder, Niemann-Pick C disease
نویسندگان
چکیده
منابع مشابه
Niemann-Pick type C disease.
A 4-year-old Afghan girl born to consanguineous parents presented with progressive neurological regression and hepatomegaly noticed after one year of age. The child had hypotonia, repeated unexplained falls and facial dyskinesia. Bone marrow examination revealed presence of storage cells suggestive of Gauchers or Niemann Pick. Confirmatory study by lysosomal enzyme from leucocytes was normal fo...
متن کامل[Niemann-Pick disease (type C)].
A 15-year old girl with slowly progressive gait and speech disorders, and with impairment of mental ability, is decsribed. The disease appeared 18 months before the first hospitalization at the Department of Neurology and Physchiatry for Children and Young People. Neurological and other examinations confirmed extrapyramidal and cerebellar signs, conspisuous knee and ankle reflexes, marked splen...
متن کاملNiemann-Pick disease type C
Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage with a wide spectrum of clinical phenotypes. At the cellular level, the disorder is characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system. Approximatively 95% of patients have mutations in the NPC1 gene (mapped at 18q11) which encodes a large membran...
متن کاملPART 16: LYSOSOMAL DISORDERS Chapter 145: Niemann-Pick Disease Type C: A Lipid Trafficking Disorder
1. Niemann-Pick disease type C (NP-C) is an autosomal recessive lipidosis with protean clinical manifestations, distinguished biochemically by a unique error in cellular trafficking of exogenous cholesterol that is associated with lysosomal accumulation of unesterified cholesterol. A majority of patients with this phenotype are linked genetically to chromosome 18, the locus of Niemann-Pick dise...
متن کاملImpaired autophagy in the lipid-storage disorder Niemann-Pick type C1 disease.
Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear. Here, we show defective autophagy in Niemann-Pick type C1 (NPC1) disease associated with cholesterol accumulation, where the maturation of autophagosomes is impaired becau...
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ژورنال
عنوان ژورنال: FEBS Letters
سال: 2006
ISSN: 0014-5793
DOI: 10.1016/j.febslet.2006.06.008