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Could some mutations of the KIF5A gene be responsible for a dominant CMT2 phenotype? (Case report)

Could some mutations of the KIF5A gene be responsible for a dominant CMT2 phenotype? (Case report) Acta Neurologica Belgica https://doi.org/10.1007/s13760-023-02248-4 LE T TER TO  THE   EDITOR Could some mutations of the KIF5A gene be responsible for a dominant CMT2 phenotype? (Case report) 1 2 1 Julien Dellatte  · Isabelle Lievens  · François Charles Wang Received: 18 August 2022 / Accepted: 20 March 2023 © The Author(s) under exclusive licence to Belgian Neurological Society 2023 Introduction (memory, attentional, dysexecutive) and behavioral (agi- tation, mood swings) impairments as well as episodes of The kinesin family member 5A (KIF5A) gene encodes the anal incontinence since childhood. The clinical examina- kinesin heavy chain subunits of tetrameric kinesin-1 protein, tion first revealed a dysmorphic syndrome (ogival palate, a motor protein playing an essential role in the intracellular hypotelorism, eversion of the lower lip) with pes cavus and transport of different cargos in nerve cells, such as mitochon- severe scoliosis. Then, it highlighted a proximal amyotro- dria, neurofilaments and mRNA. It is expressed exclusively phy of the upper limbs and lateral compartments of the leg in neurons and is located in central and peripheral nerv- responsible of a discrete bilateral stepping. Deep tendon ous system [1]. Mutations in KIF5A motor domain show reflexes were absent except for weak bilateral brachiora- a wide phenotypic spectrum from hereditary spastic para- http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Acta Neurologica Belgica Springer Journals

Could some mutations of the KIF5A gene be responsible for a dominant CMT2 phenotype? (Case report)

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Publisher
Springer Journals
Copyright
Copyright © The Author(s) under exclusive licence to Belgian Neurological Society 2023
ISSN
0300-9009
eISSN
2240-2993
DOI
10.1007/s13760-023-02248-4
Publisher site
See Article on Publisher Site

Abstract

Acta Neurologica Belgica https://doi.org/10.1007/s13760-023-02248-4 LE T TER TO  THE   EDITOR Could some mutations of the KIF5A gene be responsible for a dominant CMT2 phenotype? (Case report) 1 2 1 Julien Dellatte  · Isabelle Lievens  · François Charles Wang Received: 18 August 2022 / Accepted: 20 March 2023 © The Author(s) under exclusive licence to Belgian Neurological Society 2023 Introduction (memory, attentional, dysexecutive) and behavioral (agi- tation, mood swings) impairments as well as episodes of The kinesin family member 5A (KIF5A) gene encodes the anal incontinence since childhood. The clinical examina- kinesin heavy chain subunits of tetrameric kinesin-1 protein, tion first revealed a dysmorphic syndrome (ogival palate, a motor protein playing an essential role in the intracellular hypotelorism, eversion of the lower lip) with pes cavus and transport of different cargos in nerve cells, such as mitochon- severe scoliosis. Then, it highlighted a proximal amyotro- dria, neurofilaments and mRNA. It is expressed exclusively phy of the upper limbs and lateral compartments of the leg in neurons and is located in central and peripheral nerv- responsible of a discrete bilateral stepping. Deep tendon ous system [1]. Mutations in KIF5A motor domain show reflexes were absent except for weak bilateral brachiora- a wide phenotypic spectrum from hereditary spastic para-

Journal

Acta Neurologica Belgica – Springer Journals

Published: Dec 1, 2023

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