Click Here to return To Results

 

Adult-Onset Neimann-Pick Type C Disease, Clinical, Biochemical and Genetic Study Arch Neurol 54:1536-1541, Lossos,A.,et al, 1997 See this aricle in Pubmed Article Abstract Biochemical heterogeneity of the disorder in relation to abnormal LDL processing is associated with various clinical presentations,but adult- onset Niemann-Pick type C disease is rare and has not been comprehensively characterized.Fibroblasts of the 3 patients showed a 23%to 58%block in the induced cholesterol esterification after 4.5 hours and a mild to moderate accumulation of free cholesterol.DNA study demonstrated linkage to the major 18q11-12 Niemann-Pick type C locus and identified unaffected carriers.These results confirm the diagnosis of the least biochemically affected Neimann-Pick type C phenotype in this family with adult-onset disease and support a correlation between the mild laboratory and clinical findings in this age group.

Related Tags

(click to filter results - removes previous filter) bone marrow biopsy cerebellar atrophy,primary cerebellar degeneration chromosome 18 cultured skin fibroblasts familial foam cells genetic neurologic disorders MRI MRI,abnormal Niemann-Pick disease splenomegaly

Click Here to return To Results