Backward leaning during gait: An underrecognized sign in Niemann-Pick type C.

Gait Humans Niemann-Pick Disease, Type C / complications
Dystonic lipidosis Gait disorder Leaning backwards Niemann-pick type C Vertical gaze palsy

Journal

Parkinsonism & related disorders
ISSN: 1873-5126
Titre abrégé: Parkinsonism Relat Disord
Pays: England
ID NLM: 9513583

Informations de publication

Date de publication:
08 2022
Historique:
received: 25 05 2022
revised: 28 06 2022
accepted: 10 07 2022
pubmed: 20 7 2022
medline: 24 8 2022
entrez: 19 7 2022
Statut: ppublish

Résumé

Niemann-Pick type C (NPC) is a rare but treatable lysosomal disorder with heterogeneous clinical presentations including cognitive impairment, movement disorders and vertical gaze palsy. We illustrate five cases of genetically confirmed NPC and highlight backward leaning during gait as a relevant clinical sign and a useful diagnostic clue.

Identifiants

DOI: 10.1016/j.parkreldis.2022.07.004 PMID: 35853348
pubmed: 35853348
pii: S1353-8020(22)00222-X
doi: 10.1016/j.parkreldis.2022.07.004
pii:
doi:

Types de publication

Letter Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

96-98

Informations de copyright

Copyright © 2022 Elsevier Ltd. All rights reserved.

Auteurs

Tina Mainka (T)

Department of Neurology, Charité University Medicine, Berlin, Germany; Berlin Institute of Health, Berlin, Germany.

Lille Kurvits (L)

Department of Neurology, Charité University Medicine, Berlin, Germany; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.

Matej Skorvanek (M)

Department of Neurology, Pavol Jozef Šafárik University, Košice, Slovakia; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia.

Jan Necpal (J)

Department of Neurology, Zvolen Hospital, Zvolen, Slovakia.

Milan Grofik (M)

Department of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava and University Hospital Martin, Martin, Slovakia.

Christos Ganos (C)

Department of Neurology, Charité University Medicine, Berlin, Germany. Electronic address: christos.ganos@charite.de.

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Classifications MeSH

questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système locomoteur › Mouvement › Locomotion › Démarche › Backward leaning during gait: An...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Backward leaning during gait: An...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Maladies lysosomiales › Maladies neurologiques de surcharge lysosomiale › Sphingolipidoses › Maladies de Niemann-Pick › Maladie de Niemann-Pick de type C › Backward leaning during gait: An...