Case reportMagnetic resonance spectroscopy in niemann-pick disease type C: Correlation with diagnosis and clinical response to cholestyramine and lovastatin☆
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Cited by (45)
The complexity of a monogenic neurodegenerative disease: More than two decades of therapeutic driven research into Niemann-Pick type C disease
2019, Biochimica et Biophysica Acta - Molecular and Cell Biology of LipidsCitation Excerpt :These lowered cholesterol concentrations in the liver and total serum cholesterol however efficacy on neurological symptoms was not assessed [107]. A second investigation in an NP-C patient, observed short-term improvements in liver and brain pathology with Cholestyramine (250 mg/kg, daily), Lovastatin (1 mg/kg, twice daily) and a cholesterol-restricted diet [108]. Similar results were seen in NP-C animal models; Nifedipine (1.75 mg/kg, daily) and Probucol (200 mg/kg, two or three times weekly), administered by intraperitoneal injection at P28–30 to Npc1−/−, lowered cholesterol levels in the liver with no improvements in neurological deterioration [109].
Cerebral lipid accumulation in chanarin-dorfman syndrome
2015, Molecular Genetics and MetabolismCitation Excerpt :In SLS, however, lipid accumulation is only found in cerebral white matter, but not in the cortex and basal ganglia [24]. Abnormal cerebral 1H-MR spectra showing lipid peaks have since then also been reported in patients with other metabolic (lipid) disorders, such as cerebrotendinous xanthomatosis, neuronopathic Gaucher's disease, hereditary spastic paraplegia 54 (SPG54), rhizomelic chondrodysplasia punctata and Niemann Pick C [25–29]. In these diseases a clear neurological involvement is present, whereas our two CDS patients do not show any obvious neurological signs until now.
Use of MRS in Inborn Errors of Metabolism. Canavan's Disease and MRS in Differential Diagnosis.
2013, Magnetic Resonance Spectroscopy: Tools for Neuroscience Research and Emerging Clinical ApplicationsRecommendations for the diagnosis and management of Niemann-Pick disease type C: An update
2012, Molecular Genetics and MetabolismRecommendations on the diagnosis and management of Niemann-Pick disease type C
2009, Molecular Genetics and Metabolism
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Presented in part at the 45th Annual Meeting of the American Academy of Neurology, New York, April, 1993.