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

期刊

PARKINSONISM & RELATED DISORDERS
卷 101, 期 -, 页码 96-98

出版社

ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2022.07.004

关键词

Niemann-pick type C; Gait disorder; Leaning backwards; Dystonic lipidosis; Vertical gaze palsy

资金

  1. BIH-ChariteClinician Scientist Program of the Charite-Universitatsmedizin Berlin
  2. Berlin Institute of Health
  3. Freigeist Fellowship of the VolkswagenStiftung
  4. ERDF [ITMS2014+:313011V455]

向作者/读者索取更多资源

This article presents five genetically confirmed cases of NPC and highlights backward leaning during gait as a useful diagnostic clue.
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.

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