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

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

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

Afiliação

Sousa M; Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Switzerland; Graduate School for Health Sciences, University of Bern, Switzerland.
Maamari B; Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Switzerland.
Bremova T; Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Switzerland; Center for Rare Disorders, Institute of Clinical Chemistry Inselspital, Bern University Hospital, University of Bern, Switzerland.
Nuoffer JM; Center for Rare Disorders, Institute of Clinical Chemistry Inselspital, Bern University Hospital, University of Bern, Switzerland; University Children's Hospital Pediatric Endocrinology, Diabetology and Metabolism, Bern, Switzerland.
Wiest R; Department of Neuroradiology, Inselspital, Bern University Hospital, University of Bern, Switzerland.
Amstutz D; Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Switzerland; Graduate School for Health Sciences, University of Bern, Switzerland.
Krack P; Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Switzerland.
Bartholdi D; Department of Human Genetics, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland.
Tinkhauser G; Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Switzerland. Electronic address: gerd.tinkhauser@insel.ch.

Parkinsonism Relat Disord ; 120: 105460, 2024 Mar.

Article em En | MEDLINE | ID: mdl-37355399

Assuntos

Doença de Niemann-Pick Tipo C; Adulto; Humanos; Doença de Niemann-Pick Tipo C/diagnóstico

Palavras-chave

Atypical parkinsonism; Cerebellar ataxia; Niemann Pick type C; Supra-nuclear gaze palsy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Niemann-Pick Tipo C Limite: Adult / Humans Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Suíça País de publicação: Reino Unido

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