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The genetics of motor neuron diseases

Figlewicz, DA; Orrell, RW; (2003) The genetics of motor neuron diseases. AMYOTROPH LATERAL SC , 4 (4) 225 - 231. 10.1080/14660820310011287.

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Abstract

Motor neuron diseases may be divided into three categories: those with lower motor neuron involvement - spinal muscular atrophy (SMA) and spinobulbar muscular atrophy (SBMA or Kennedy's disease); those with upper motor neuron involvement primary lateral sclerosis (PLS)(1,2) and the spastic paraplegias; and those with combined upper and lower motor neuron involvement - amyotrophic lateral sclerosis (ALS). Other familial motor neuron disorders include hereditary neuronopathies, GM2 gangliosidosis, and possibly the ALS/PD syndrome of Guam. The contribution of genetics to the etiopathogenesis of motor neuron disorder varies considerably, accounting for a high percentage of spinal muscular atrophies, but only a small fraction of cases of ALS. The mode of inheritance also varies, with examples of autosomal dominant (AD), autosomal recessive (AR), or X-linked kindreds. (Tables 1 and 2).

Type: Article
Title: The genetics of motor neuron diseases
DOI: 10.1080/14660820310011287
Keywords: ALS, genetics, motor neuron diseases, spinal muscular atrophy, spinobulbar neuronopathy, AMYOTROPHIC-LATERAL-SCLEROSIS, HEREDITARY SPASTIC PARAPLEGIA, CU/ZN-SUPEROXIDE-DISMUTASE, TRANSGENIC MOUSE MODEL, HEAVY NEUROFILAMENT SUBUNIT, ANDROGEN RECEPTOR GENE, GLUTAMATE TRANSPORTER, PARKINSONISM-DEMENTIA, MUSCULAR-ATROPHY, UK FAMILIES
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: http://discovery.ucl.ac.uk/id/eprint/122558
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