Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Atrophy / pathology
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Brain / blood supply
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Brain / pathology*
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Carrier Proteins / genetics*
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Cognition Disorders / diagnosis
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Diagnosis, Differential
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Fatal Outcome
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Humans
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Intracellular Signaling Peptides and Proteins
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Male
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Membrane Glycoproteins / genetics*
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Neuropsychological Tests
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Niemann-Pick C1 Protein
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Niemann-Pick Diseases / diagnosis*
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Niemann-Pick Diseases / genetics*
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Niemann-Pick Diseases / metabolism
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Polymerase Chain Reaction / methods
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Severity of Illness Index
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Tomography, Emission-Computed, Single-Photon
Substances
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Carrier Proteins
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Intracellular Signaling Peptides and Proteins
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Membrane Glycoproteins
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NPC1 protein, human
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Niemann-Pick C1 Protein