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Motor Neuron Disease Postgrad Med J: first published as 10.1136/pgmj.68.801.533 on 1 July 1992. Downloaded from Postgrad Med J (1992) 68, 533 - 537 © The Fellowship of Postgraduate Medicine, 1992 Motor neuron disease M. Swash Department ofNeurology, Section ofNeurological Sciences, The Royal London Hospital, London El JBB, UK Introduction Motor neuron disease (MND) represents one ofthe Table I Classification of motor neuron diseases major unsolved problems in neurology. The literature is characterized by numerous speculative theories, mostly derived by analogy with other A. Genetic disorders affecting anterior horn cells recognized causes of motor neuron death such as e.g. spinal muscular atrophies poliomyelitis, or from toxic exposures such as lead hexosaminidase deficiency poisoning. However, analogous reasoning of this B. Acquired disorders of the lower motor neuron type has not, so far, given insights into MND itself, e.g. anterior poliomyelitis or resulted in testable hypotheses. It is therefore syringomyelia relevant to consider the extent of established knowledge concerning the disease. C. Motor neuron disease syndromes e.g. amyotrophic lateral sclerosis/motor neuron disease copyright. Nomenclature progressive muscular atrophy progressive lateral sclerosis In most countries other than those with a strong progressive bulbar/pseudo-bulbar palsy British cultural heritage motor neuron disease is D. Rare motor neuron syndromes known as amyotrophic lateral sclerosis (ALS) the e.g. Madras motor neuron disease name that Charcot' used in 1869 to describe the motor neuron disease with deafness typical pathology. In the United Kingdom the term familial motor neuron disease MND has been preferred, used as a generic term to familial spastic paraparesis http://pmj.bmj.com/ embrace all forms of acquired degenerative disease ALS with frontal dementia ofthe motor system, in which both upper and lower E. Diseases that may mimic motor neuron syndromes, motor signs may be present. This is shown in Table but are not forms of MND I. Confusion in terminology often implies lack of e.g. motor neuropathy with conduction block understanding both of clinical definition and radiation myelopathy pathogenesis, and this is certainly so in MND. heavy metal poisoning Most patients with MND show the clinical features amyotrophic form of Creutzfeldt-Jakob ofthe ALS syndrome, only rare patients presenting disease on September 25, 2021 by guest. Protected with the clinical syndromes of primary lateral sclerosis, or progressive muscular atrophy. In about 10% of patients there is a syndrome of progressive bulbar palsy without other manifesta- tions. However, in the terminal phase ofthe disease opportunity to study the biology of the affected more widespread features are almost invariable.2 parts of the motor system during life. Histo- pathological research in living patients is therefore necessarily restricted to studies of muscle and its The problem of research in MND innervation. The motor system in the brain and spinal cord is available for study only after death, Because MND is a progressive condition that when the disease has reached its maximum extent, affects the brain and spinal cord, there is no and with the inevitable problems of post-mortem artefact. Little is therefore known about the pro- cess of motor neuronal death in the spinal cord or in the somatic brain stem nuclei, and its relation to Correspondence: M. Swash, M.D., F.R.C.P., M.R.C.Path. involvement of the upper motor neuron, apart Postgrad Med J: first published as 10.1136/pgmj.68.801.533 on 1 July 1992. Downloaded from 534 M. SWASH from what has been learnt from clinical and widespread from the earliest point of diagnosis, physiological studies during life. The absence ofan when there is already atrophy of some muscle animal model of the disease has further restricted groups.4'5 Retrospective studies of clinical data research. Since the disease, as far as is known, has sometimes indicate that the disease may begin no systemic effect, there is no abnormality in blood several years before presentation with muscular or other tissues that could be investigated in weakness or wasting; thus there may be a long parallel to the involvement of the nervous system. preclinical phase.6 There is some controversy as to Imaging of the nervous system by computerized whether progression of the disease is linear7 or tomographic (CT) scanning reveals mild frontal non-linear. Studies of the batting averages of Lou and parietal atrophy,3 but magnetic resonance Gehrig, the celebrated American professional base- imaging (MRI) studies can demonstrate degenera- ball player who developed MND during his playing tion taking place in the upper motor neuron career, suggest that there was an abrupt fall-off in pathway in the brain and cerebral peduncles in performance about 2 years before his death.8 some cases. Brooks and his colleagues have studied the natural history of MND in some detail in relation to the possible design of clinical trials of putative new Clinical clues treatments, and have found a linear early phase, followed by a slowing in the rate of progression in The clinical features of the disease themselves the later stages of the disease.9 Assessment of these indicate the framework that any formulation of data requires recognition of the necessity for up to causation must seek to explain. The variability in 80% loss of motor neurons before clinical weak- presentation with upper or motor neuron features ness develops,"' because ofthe superimposed factor predominating, the presentation in some cases, of compensatory reinnervation. particularly in middle-aged women, with bulbar The occurrence of sensory symptoms in MND is features, and the gradual progression to more common, although objective sensory abnormalities generalized disease with the expression of the are rarely, ifever, found." The sensory threshold to complete syndrome of amyotrophic lateral quantitative testing may be reduced,'2"13 especiallycopyright. sclerosis, is rather characteristic. It has been con- the thermal threshold.'4 These findings have been sidered that these progressive features imply interpreted in terms of involvement of small primary involvement of anterior horn cells or, unmyelinated sensory axons in the peripheral ner- conversely, that the disease is primarily expressed vous system in the disease, and are perhaps also in the upper motor neuron, involvement of the consistent with the finding of pallor of the medial lower motor neuron developing as a secondary parts of the posterior columns in the cervical cord feature. These interpretations of the pathogenesis in autopsy studies. and spread of the disease are examples of the Autonomic function is generally considered nor- http://pmj.bmj.com/ essentially speculative reasoning alluded to above. mal in MND, although there is evidence of abnor- Fatiguability, cramps and weakness are all malities in cardiovascular tests,'5 a finding that is symptoms of neurogenic disease that are common consistent with the slight loss of neurons in the in the course of MND and that do not require intermediolateral cell columns observed by Ken- specific explanation in MND as distinct from their nedy and Duchen.'6 occurrence in other neurogenic disorders. The early Dementia is a recognized feature of the later neurogenic features, however, are frequently asym- stages ofthe disease, but its frequency is difficult to metrical although, even at this time, there are define because of the problems in assessment of on September 25, 2021 by guest. Protected usually abnormalities, such as fasciculation, that mental state in severely ill patients. It may occur in are detectable in other muscle groups and that about 15% of cases.'7 Neary and colleagues des- indicate more widespread involvement of the cribed a specific syndrome offrontal lobe dementia motor system. Two-thirds of patients present with with MND, in which there was vacuolar change in weakness of one limb, and this is slightly more frontal and temporal lobes.'8 The clinical and likely to consist of weakness of a leg rather than of pathological features of the dementia that some- an arm. The distribution ofinitial involvement and times occurs in MND are not those of Alzheimer's the subsequent development of more widespread disease. involvement does not follow any predictable pat- Spinocerebellar neurons are also involved in the tern, and the factors leading to the specific affection disease.'9'20 These findings outside the motor of certain muscle groups at the onset in any system clearly indicate that MND is a disorder that individual case are unknown. There is no evidence affects the central and peripheral nervous systems that the pattern of use of a group of muscles is more widely than has previously been recognized. relevant to the clinical progression of the disease, Any concept of causation must seek to encompass although this is an attractive notion. However, these features. electromyogram studies suggest that the disease is The relative invulnerability of certain groups of Postgrad Med J: first published as 10.1136/pgmj.68.801.533 on 1 July 1992. Downloaded from MOTOR NEURON DISEASE 535 motor neurons to the disease process has excited ascertainment of familial cases is likely to be considerable attention. Patients with MND usually inaccurate. The example of the spinal muscular retain eye movement, do not suffer from stridor, atrophies, which are inherited as autosomal reces- and do not become incontinent since the muscles sive traits, and known to be associated with a responsible for these functions are relatively resis- genetic locus on chromosome 5qll.2-13.3,29 is tant to neurogenic atrophy in the disease. The important since this also is a disorder in which there external ocular movements often show abnor- is progressive motor neuronal death, although malities of slow pursuit in the later stages of the without associated degeneration of the upper disease,2' and partial external ophthalmoplegia has motor neuron, and without the mild, but wide- been recognized in a few cases with long sur- spread involvement of other neuronal systems in vival22'23 with loss of neurons in the ocular motor the central nervous system.
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