KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement

• Published in: Journal of the peripheral nervous system Vol. 25; no. 2; pp. 117 - 124
• Main Authors: Nemani, Tarishi, Steel, Dora, Kaliakatsos, Marios, DeVile, Catherine, Ververi, Athina, Scott, Richard, Getov, Spas, Sudhakar, Sniya, Male, Alison, Mankad, Kshitij, Muntoni, Francesco, Reilly, Mary M, Kurian, Manju A, Carr, Lucinda, Munot, Pinki
• Format: Journal Article
• Language: English
• Published: Malden, USA Wiley Periodicals, Inc 01.06.2020; Wiley Subscription Services, Inc
• Subjects: Atrophy; Autonomic nervous system; Children; Dysautonomia; Dystonia; Epilepsy; hereditary spastic paraparesis; KIF1A; Magnetic resonance imaging; Movement disorders; Mutation; Nervous system; Neurological diseases; neuropathy; Optic atrophy; Optic neuropathy; Phenotypes; Polyneuropathy; Sensorimotor system; Spasticity; Substantia alba; neuropathy; hereditary spastic paraparesis; KIF1A; dysautonomia; dystonia

KIF1A‐related disorders (KRD) were first described in 2011 and the phenotypic spectrum has subsequently expanded to encompass a range of central and peripheral nervous system involvement. Here we present a case series demonstrating the range of clinical, neurophysiological, and radiological features...