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KIF1A ‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement
Author(s) -
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
Publication year - 2020
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12368
Subject(s) - dystonia , dysautonomia , medicine , spasticity , white matter , atrophy , movement disorders , central nervous system , pediatrics , neuroscience , peripheral nervous system , familial dysautonomia , physical medicine and rehabilitation , pathology , psychology , magnetic resonance imaging , psychiatry , radiology , disease
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 which may occur in childhood‐onset KRD. We report on all the children and young people seen at a single large tertiary centre. Data were collected through a retrospective case‐notes review. Twelve individuals from 10 families were identified. Eight different mutations were present, including four novel mutations. Two patients displayed a very severe phenotype including congenital contractures, severe spasticity and/or dystonia, dysautonomia, severe sensorimotor polyneuropathy and optic atrophy, significant white matter changes on brain MRI, respiratory insufficiency, and complete lack of neurodevelopmental progress. The remaining 10 patients represented a spectrum of severity with common features including a movement disorder with spasticity and/or dystonia, subtle features of dysautonomia, sensory axonal neuropathy, varying degrees of optic atrophy and of learning and/or behavioural difficulties, and subtle or absent—but sometimes progressive—changes in white matter on MRI. Epilepsy was common among the more severely affected children. This case series demonstrates that KRD comprise a range of neurological disorders, with both the milder and the more severe forms combining central and peripheral (including autonomic) nervous system deficits.