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Niemann–Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage disease resulting from mutations of either the NPC1 (95% of families) or the NPC2 gene, showing a wide spectrum of clinical phenotypes and a highly variable age at diagnosis.1,2
We report NPC1 in the oldest patient affected with the disease so far. This 68-year-old woman presented with a 15-year history of depression and fluctuating mood, and was treated several times in psychiatric departments during the previous years. At the age of 54 she was unable to work further. In the past 4 years she had developed a fluctuating, progressive dementia with reduced impulse, affective instability, dysphagia, cramped hands and dyskinesia. A percutaneous endoscopic gastrostomy was initiated owing to the loss of considerable body weight in …
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