KIF1A ‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement
| العنوان: | KIF1A ‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement |
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| المؤلفون: | Manju A. Kurian, Dora Steel, Francesco Muntoni, Sniya Sudhakar, Richard H Scott, Lucinda Carr, Kshitij Mankad, Alison Male, Tarishi Nemani, Marios Kaliakatsos, Athina Ververi, Spas Getov, Mary M. Reilly, Pinki Munot, Catherine DeVile |
| المصدر: | Journal of the Peripheral Nervous System. 25:117-124 |
| بيانات النشر: | Wiley, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Adult, Male, Nervous system, Pediatrics, medicine.medical_specialty, Sensory axonal neuropathy, Kinesins, Primary Dysautonomias, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Atrophy, Central Nervous System Diseases, medicine, Humans, Spasticity, Child, Retrospective Studies, Dystonia, Spastic Paraplegia, Hereditary, business.industry, General Neuroscience, Infant, Peripheral Nervous System Diseases, Dysautonomia, medicine.disease, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Peripheral nervous system, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery |
| الوصف: | 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. |
| تدمد: | 1529-8027 1085-9489 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c80a3a29fdcf4ef73726251090fa2a5Test https://doi.org/10.1111/jns.12368Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....2c80a3a29fdcf4ef73726251090fa2a5 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15298027 10859489 |
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