Late-onset Niemann–Pick disease type C overlapping with frontotemporal dementia syndromes: a case report

The diagnosis of adult-onset Niemann–Pick disease type C (NPC) could be difficult because its primary symptoms [dementia and vertical supranuclear gaze palsy (VSGP)] are mainly seen in neurodegenerative dementias and progressive supranuclear palsy (PSP). Our patient with dementia and asymmetric park...

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Detalles Bibliográficos
Autores principales: Balázs, Nóra, Milanovich, Dániel, Hornyák, Csilla, Bereczki, Dániel, Kovács, Tibor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Vienna 2019
Materias:
Neurology and Preclinical Neurological Studies - Short communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815276/
https://www.ncbi.nlm.nih.gov/pubmed/31506735
http://dx.doi.org/10.1007/s00702-019-02058-0
Descripción
Sumario:The diagnosis of adult-onset Niemann–Pick disease type C (NPC) could be difficult because its primary symptoms [dementia and vertical supranuclear gaze palsy (VSGP)] are mainly seen in neurodegenerative dementias and progressive supranuclear palsy (PSP). Our patient with dementia and asymmetric parkinsonism resembled corticobasal syndrome and after the appearance of VSGP, the criteria of PSP were fulfilled too. Cerebellar symptoms appeared late during the course of the disease, leading to the diagnosis of NPC at the age of 59 years.

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