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

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...

Full description

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:
Hereditary spastic paraplegia
Whole exome sequencing
MRI
SPG11
Ears of the lynx sign
Online Access:http://www.sciencedirect.com/science/article/pii/S2405650221000848

Similar Items

Similar Items