Impaired intracellular lipid trafficking in patientes with progressive Supranuclear palsy: Expanding phenotypic spectrum on Niemann-Pick Disease Type C

MICHELI FEDERICO; PERANDONES CLAUDIA; GIUNI JC; GONZALEZ ALEMAN G; GABRIELA BEATRIZ RAINA; PELLENE LA; CONTI ME; MAIOLA RP; BRUNI NICOLAS; FARINI VERÓNICA L; RADRIZZANI MARTIN

Buenos Aires

Congreso; 5º Congreso Latinoamericano de Enfermedades Lisosomales; 2013

Sociedad Latinoamericana de Enfermedades Lisosomales

P { margin-bottom: 0.21cm; direction: ltr; color: rgb(0, 0, 0); line-height: 115%; widows: 2; orphans: 2; }P.western { font-family: "Calibri",sans-serif; font-size: 11pt; }P.cjk { font-family: "Times New Roman",serif; font-size: 11pt; }P.ctl { font-family: "Times New Roman",serif; font-size: 11pt; }A:link { color: rgb(0, 0, 255); } Abstract: Progressive supranuclear palsy (PSP) is a progressive neurodegenerative disease characterized by gait disturbance, vertical supranuclear gaze palsy, akinetic-rigid syndrome with levodopa unresponsiveness, frontotemporal dementia and premature death. Adult-onset Niemann-Pick disease type C (NP-C) has several symptoms in common with PSP, but is an underestimated pathology due to its highly variable clinical phenotype and age of onset. We have examined impaired intracellular lipid trafficking defects among four patients diagnosed with PSP. All four patients exhibited a biochemical phenotype consistent with a diagnosis of NP-C, as confirmed by filipin staining in cultured skin fibroblasts. In the light of our findings we propose that NP-C should be considered during differential diagnosis amongpatients with PSP.Keywords: Progressive supranuclear palsy, Niemann-Pick disease type C, parkinsonism, tau protein, filipin staining.