Neuropediatrics 2020; 51(02): 146-153
DOI: 10.1055/s-0039-3400988
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene

1   Department of Neurology, Section Pediatric Neurology, School for Mental Health and Neuroscience (MHeNS), Maastricht University Medical Centre, Maastricht, The Netherlands
,
J. Nicolai
1   Department of Neurology, Section Pediatric Neurology, School for Mental Health and Neuroscience (MHeNS), Maastricht University Medical Centre, Maastricht, The Netherlands
,
J. Verhoeven
2   Academical Centre for Epileptology Kempenhaeghe & Maastricht UMC+, Kempenhaeghe, Heeze, The Netherlands
,
L. Speth
3   Department of Rehabilitation Medicine, Adelante, Maastricht University Medical Centre, Maastricht, The Netherlands
,
M. Coenen
4   Department of Physiotherapy, Gait Analysis Laboratory, Maastricht University Medical Centre, Maastricht, The Netherlands
,
M.A. Willemsen
5   Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands
,
E.J. Kamsteeg
6   Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands
,
C. Stumpel
7   Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands
,
R.J. Vermeulen
1   Department of Neurology, Section Pediatric Neurology, School for Mental Health and Neuroscience (MHeNS), Maastricht University Medical Centre, Maastricht, The Netherlands
› Author Affiliations

Funding This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
Further Information

Publication History

22 April 2019

11 October 2019

Publication Date:
05 December 2019 (online)

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Abstract

Several de novo variants in the KIF1A gene have been reported to cause a complicated form of hereditary spastic paraplegia. Additional symptoms include cognitive impairment and varying degrees of peripheral neuropathy, epilepsy, decreased visual acuity, and ataxia. We describe four patients (ages 10–18 years), focusing on their mobility and gait characteristics. Two patients were not able to walk without assistance and showed a severe abnormal gait pattern, crouch gait. At examination, severe contractures were found.

In addition to describing the different phenotypes with specific attention to gait in our cases, we reviewed known KIF1A mutations and summarized their associated phenotypes.

We conclude that mobility and cognition are severely affected in children with spastic paraplegia due to de novo KIF1A mutations. Deterioration in mobility is most likely due to progressive spasticity, muscle weakness, and the secondary development of severe contractures, possibly combined with an additional progressive polyneuropathy. Close follow-up and treatment of these patients are warranted.

Supplementary Material