Show simple item record Dobson, C. B. Villagra, F. Clowry, G. J. Smith, M. Kenwrick, S. Donnai, D. Miller, S. Eyre, J. A. 2017-05-16T22:12:07Z 2017-05-16T22:12:07Z 2001-12
dc.identifier.citation Dobson , C B , Villagra , F , Clowry , G J , Smith , M , Kenwrick , S , Donnai , D , Miller , S & Eyre , J A 2001 , ' Abnormal corticospinal function but normal axonal guidance in human L1CAM mutations ' Brain , vol. 124 , no. 12 , pp. 2393-23406 . en
dc.identifier.issn 0006-8950
dc.identifier.other PURE: 11550078
dc.identifier.other PURE UUID: de918eb4-c760-4204-a637-526c32c60c7e
dc.identifier.other PubMed: 11701594
dc.identifier.other Scopus: 0035212143
dc.identifier.other 2160/45127
dc.description.abstract L1 cell adhesion molecule (L1CAM) gene mutations are associated with X-linked 'recessive' neurological syndromes characterized by spasticity of the legs. L1CAM knock-out mice show hypoplasia of the corticospinal tract and failure of corticospinal axonal decussation and projection beyond the cervical spinal cord. The aim of this study was to determine if similar neuropathology underlies the spastic diplegia of males hemizygous for L1CAM mutations. Studies were performed on eight carrier females and 10 hemizygous males. Transcranial magnetic stimulation excited the corticospinal tract and responses were recorded in biceps brachii and quadriceps femoris. In contralateral biceps and quadriceps the responses had high thresholds and delayed onset compared with normal subjects. Ipsilateral responses in biceps were smaller, with higher thresholds and delayed onsets relative to contralateral responses. Subthreshold corticospinal conditioning of the stretch reflex of biceps and quadriceps was abnormal in both hemizygous males and carrier females suggesting there may also be a reduced projection to inhibitory interneurones. Histological examination of post-mortem material from a 2-week-old male with an L1CAM mutation revealed normal corticospinal decussation and axonal projections to lumbar spinal segments. These data support a role for L1CAM in corticospinal tract development in hemizygous males and 'carrier' females, but do not support a critical role for L1CAM in corticospinal axonal guidance. en
dc.format.extent 14 en
dc.language.iso eng
dc.relation.ispartof Brain en
dc.rights en
dc.subject Adolescent en
dc.subject Adult en
dc.subject Axons en
dc.subject Child en
dc.subject Child, Preschool en
dc.subject Electric Stimulation en
dc.subject Female en
dc.subject GAP-43 Protein en
dc.subject Genetic Linkage en
dc.subject Heterozygote en
dc.subject Humans en
dc.subject Infant en
dc.subject Infant, Newborn en
dc.subject Leukocyte L1 Antigen Complex en
dc.subject Magnetics en
dc.subject Male en
dc.subject Membrane Glycoproteins en
dc.subject Middle Aged en
dc.subject Motor Cortex en
dc.subject Motor Skills en
dc.subject Muscle, Skeletal en
dc.subject Mutation en
dc.subject Neural Cell Adhesion Molecules en
dc.subject Pyramidal Tracts en
dc.subject Reflex, Stretch en
dc.subject X Chromosome en
dc.subject Journal Article en
dc.subject Research Support, Non-U.S. Gov't en
dc.title Abnormal corticospinal function but normal axonal guidance in human L1CAM mutations en
dc.type /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article en
dc.contributor.institution Department of Biological, Environmental and Rural Sciences en
dc.description.status Peer reviewed en

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