Late adult-onset Niemann Pick type C (NPC): An “atypical” typical presentation at the age of 62

Author:

Sousa M.ORCID,Maamari B.,Bremova T.,Nuoffer J.M.,Wiest R.,Amstutz D.,Krack P.,Bartholdi D.,Tinkhauser G.

Funder

Swiss National Science Foundation

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference17 articles.

1. “Atypical” atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-A diagnostic guide;Stamelou;Mov. Disord.,2013

2. Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease;Groenen;J. Lipid Res.,2022

3. Niemann-pick C disease gene mutations and age-related neurodegenerative disorders;Zech;PLoS One,2013

4. Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations;Sriretnakumar;Am. J. Med. Genet. Part B Neuropsychiatr. Genet.,2019

5. Adult niemann-pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect 11 medical and health sciences 1103 clinical sciences;Nadjar;Orphanet J. Rare Dis.,2018

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