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Adult onset Niemann‐Pick type C disease: A clinical, neuroimaging and molecular genetic study
Author(s) -
Battisti Carla,
Tarugi Patrizla,
Dotti Maria Teresa,
De Stefano Nicola,
Vattimo Angelo,
Chierichetti Francesea,
Calandra Sebastiano,
Federico Antonio
Publication year - 2003
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10541
Subject(s) - magnetic resonance imaging , npc1 , positron emission tomography , neuroimaging , pathology , dystonia , niemann–pick disease , medicine , disease , phenotype , psychology , neuroscience , biology , radiology , genetics , gene , receptor , endosome
We report on a patient with adult‐onset Niemann‐Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the NPC1 gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. Filipin staining, single photon emission computed tomography perfusional, positron emission tomography metabolic, conventional magnetic resonance imaging, and magnetic resonance spectroscopy findings suggested a pathophysiological correlation with phenotype expression. This case expands the clinical and genetic spectrum of the rare adult‐onset NPC disease phenotype. © 2003 Movement Disorder Society