A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene

Individuals with hereditary spastic paraplegia (HSP) are known to present with a variety of symptoms, including intellectual disability, cognitive decline, parkinsonism, and epilepsy. We report here our experience of treating a family with consanguinity, including three patients with HSP-related sym...

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Bibliographic Details
Main Authors: Kensuke Daida, Yosuke Nishioka, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Nobutaka Hattori, Kenya Nishioka
Format: Article
Language:English
Published: Elsevier 2022-03-01
Series:eNeurologicalSci
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2405650221000848