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