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

Autor: M. Coenen, Connie T.R.M. Stumpel, Judith S. Verhoeven, Joost Nicolai, Michèl A.A.P. Willemsen, Erik-Jan Kamsteeg, A.E. Van Beusichem, R. J. Vermeulen, Lucianne Speth
Přispěvatelé: MUMC+: MA AIOS Neurologie (9), Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Revalidatiegeneeskunde, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine
Rok vydání: 2019
Předmět:
0301 basic medicine
Male
peripheral neuropathy
Kinesins
030105 genetics & heredity
Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
0302 clinical medicine
Spastic
Child
KIF1A
spasticity
Peripheral Nervous System Diseases
General Medicine
Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]
mobility
DOMINANT
Phenotype
gait analysis
Progressive spasticity
Female
medicine.symptom
Paraplegia
CROUCH GAIT
medicine.medical_specialty
Ataxia
MOTOR DOMAIN
Adolescent
Hereditary spastic paraplegia
Vision Disorders
03 medical and health sciences
Physical medicine and rehabilitation
medicine
MANAGEMENT
Humans
Cognitive Dysfunction
Spasticity
hereditary spastic paraplegia
Mobility Limitation
Gait Disorders
Neurologic
Muscle contracture
Epilepsy
business.industry
Spastic Paraplegia
Hereditary
NEUROPATHY
medicine.disease
Peripheral neuropathy
DE-NOVO MUTATIONS
Pediatrics
Perinatology and Child Health
Neurology (clinical)
business
030217 neurology & neurosurgery
DIPLEGIA
Zdroj: Neuropediatrics, 51(2), 146-153. Georg Thieme Verlag
Neuropediatrics, 51, 146-153
Neuropediatrics, 51, 2, pp. 146-153
ISSN: 1439-1899
0174-304X
Popis: Contains fulltext : 218293.pdf (Publisher’s version ) (Closed access) 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.
Databáze: OpenAIRE
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