title: Differentiating lower motor neuron syndromes.
abstract: Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness and may arise from pathology affecting the distal motor nerve up to the level of the anterior horn cell. A variety of hereditary causes are recognised, including spinal muscular atrophy, distal hereditary motor neuropathy and LMN variants of familial motor neuron disease. Recent genetic advances have resulted in the identification of a variety of disease-causing mutations. Immune-mediated disorders, including multifocal motor neuropathy and variants of chronic inflammatory demyelinating polyneuropathy, account for a proportion of LMN presentations and are important to recognise, as effective treatments are available. The present review will outline the spectrum of LMN syndromes that may develop in adulthood and provide a framework for the clinician assessing a patient presenting with predominantly LMN features.
authors.affiliation: Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Nidhi
authors.initials: N
authors.lastname: Garg
authors.affiliation: Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Susanna B
authors.initials: SB
authors.lastname: Park
authors.affiliation: Departments of Neurology and Neurophysiology, Westmead Hospital, The University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Steve
authors.initials: S
authors.lastname: Vucic
authors.affiliation: Department of Neurology, Concord and Royal North Shore Hospitals, The University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Con
authors.initials: C
authors.lastname: Yiannikas
authors.affiliation: Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Judy
authors.initials: J
authors.lastname: Spies
authors.affiliation: Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.
authors.forename: James
authors.initials: J
authors.lastname: Howells
authors.affiliation: Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.|Prince of Wales Clinical School, The University of New South Wales, Sydney, New South Wales, Australia.
authors.forename: William
authors.initials: W
authors.lastname: Huynh
authors.affiliation: Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.
authors.forename: José M
authors.initials: JM
authors.lastname: Matamala
authors.affiliation: Prince of Wales Clinical School, The University of New South Wales, Sydney, New South Wales, Australia.
authors.forename: Arun V
authors.initials: AV
authors.lastname: Krishnan
authors.affiliation: Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.
authors.forename: John D
authors.initials: JD
authors.lastname: Pollard
authors.affiliation: Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
authors.forename: David R
authors.initials: DR
authors.lastname: Cornblath
authors.affiliation: MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, London, UK.
authors.forename: Mary M
authors.initials: MM
authors.lastname: Reilly
authors.affiliation: Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Matthew C
authors.initials: MC
authors.lastname: Kiernan
mesh_terms: D000870:Anterior Horn Cells / Q000473:pathology; D001323:Autoantibodies / Q000032:analysis; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006801:Humans; D016472:Motor Neuron Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009046:Motor Neurons / Q000473:pathology; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D020277:Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D013577:Syndrome
chemical_list: D001323:Autoantibodies
keywords: GENETICS; MOTOR NEURON DISEASE; NEUROIMMUNOLOGY; NEUROPATHY; NEUROPHYSIOLOGY