Backward leaning during gait: An underrecognized sign in Niemann-Pick type C. (August 2022)

• Record Type: Journal Article
• Authors: Mainka, Tina; Kurvits, Lille; Skorvanek, Matej; Necpal, Jan; Grofik, Milan; Ganos, Christos
• Is Part Of: Parkinsonism & related disorders. Volume 101(2022)
• Page Start: 96
• Page End: 98
• Publication Date: 2022-08
• Subjects: Niemann-pick type C -- Gait disorder -- Leaning backwards -- Dystonic lipidosis -- Vertical gaze palsy; Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2022.07.004
• Languages: English
• ISSNs: 1353-8020

Abstract

Abstract: 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. Highlights: NPC is a rare but treatable disorder with heterogeneous clinical presentations. Backward leaning of the trunk, pronounced during gait, is a novel clinical sign. Dystonia and impaired postural body control might contribute to its pathophysiology.