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ALCOHOLISM AND COLOUR-BLINDNESS
113 Dr. Varadi’s views6 on the suitability of structural changes in blood-films as a primary screening procedure are given in the absence of his clinical findings in patients with psychiatric disorders. The simplicity of this morphological approach as a screening procedure is attractive, but our results show that this will not detect all cases of vitamin-B12 deficiency in psychiatric practice. This has also been the experience of Dr. Schrumpf"and his colleagues, and we look forward to studying their results when these appear in Acta Medica
Scandinavica. Department of Mental Health, Department of Medicine, Department of Pathology, Department of Medicine, University of Aberdeen.
J. G. HENDERSON R. W. STRACHAN J. SWANSON BECK A. A. DAWSON.
ATYPICAL PROGRESSIVE MUSCULAR ATROPHY SIR,-We were intrigued by the case of atypical progressive muscular atrophy reported by Dr. Araki and his co-workers.s The combination of bulbar and facial weakness, distal wasting and weakness of the limb muscles, sensory deficit, delayed motor and sensory nerve conduction, and raised serumcreatine-kinase levels is certainly most unusual in the conditions
cases. 10 .12
14 16
In our view this should not necessarily be taken to imply that in these conditions a primary myopathic process is present besides disease of the motor neurone. Probably the same is true of the occasional " myopathic " histological appearances found in muscle obtained from cases of CharcotMarie-Tooth disease 17; on the other hand these changes occurring in such cases with long-standing denervation atrophy may explain the raised serum-creatine-kinase levels which are sometimes found. The rise in serum-creatine-kinase activity in certain relatives of the case described by Araki et al. is much more difficult to explain unless they were heterozygous " carriers " of the gene responsible for this disease. It would be interesting to measure nerve-conduction velocity in some of these relatives, and even perhaps to carry out muscle biopsy to see whether further evidence could be obtained to suggest that this was so. Muscular Dystrophy DAVID GARDNER-MEDWIN Research Laboratories, PETER HUDGSON Newcastle General Hospital, Newcastle upon Tyne 4. JOHN N. WALTON. some
they listed as diagnostic possibilities, including the Kugelberg-Welander syndrome and Charcot-Marie-Tooth
which
A SKINFUL OF ALCOHOL SIR,-A bellyful really: this is what provoked the welcome explosion described by Dr. Gold, 18 Welcome, because of the several substances producing, as side-effect, hypersensitivity to alcohol 19 20, so far only two (another being under investigation) admit of practical application: ’Antabuse’ (disulfiram) and , Abstem ’ (calcium carbamide). In ’Tetmosol’ (monosulfiram) Dr. Gold has added a third and-which is entirely newone that works via the skin. Wyke House, H. PULLAR-STRECKER. Isleworth, Middlesex.
disease. The problem of the classification of familial disorders of the lower motor neurone is already so confused that we feel sure that Dr. Araki and his colleagues are wise to report the facts of their case without any implication that they are describing a new disease entity. It has recently been suggested that CharcotMarie-Tooth disease, for example, is but one of a wide spectrum of genetically determined disorders of the nervous system ALCOHOLISM AND COLOUR-BLINDNESS including the hereditary ataxias and even the hereditary parkinsonism-dementia complex.After studying 19 cases of benign SIR,—I read with interest the hypothesis by Dr. Cruz-Coke spinal muscular atrophy seen in this unit 10 we find this concept and Dr. Varela 21 in which it is suggested that there is a genetic attractive, and in particular feel confident that the Kugelberg- tendency towards alcoholism and that the gene which causes Welander syndrome and Werdnig-Hoffmann disease have a this tendency is on the X chromosome near to the gene causing common genetic basis (being occasionally seen in the same colour-blindness. family). Peroneal muscular atrophy may also have a close On a basis of natural selection according to Darwin, being genetic relationship to these conditions, because cases with colour-blind is an unfavourable trait, and the possessor of such intermediate clinical features may be found. For example, a trait would therefore tend to have a more difficult time to among our cases of benign spinal muscular atrophy were 2 make his way in the world, however slightly he might feel unrelated boys, aged 8 and 14, who had clinical, electromyorejected. The more sophisticated the community in which he graphic, and histological evidence of anterior-horn-cell disease, lived the more difficulty he might be expected to have. but their muscular involvement was predominantly distal in all According to the figures given by Dr. Cruz-Coke and Dr. four limbs and they also had bulbar weakness. There was no Varela for people living in Northern Chile, in the five comsensory loss. In one of them motor-nerve conduction was normunities of seminomadic and rural villages investigated no mal, but in the other electromyography showed some evidence person who was colour-blind was an alcoholic, although up to of active denervation (fibrillation potentials) and motor-nerve 6% of the population were colour-blind and up to 3% were conduction was slowed. In the latter case the cerebrospinal alcoholic. Only in an urban community was there any correlafluid was examined and was found to be normal. Neither child tion, 18% of the sample being colour-blind, 16% being had a positive family history. Thus in certain respects they alcoholic, and 10% being both; Caucasian admixture was 47% resembled the case of Araki et al. but in both cases the serumin this sample, compared with 2-15% in the first five samples. creatine-kinase was normal. A much more likely hypothesis than a genetic origin of the Raised serum-creatine-kinase levels have been reported in alcoholism in the urban community might be that of darwinian many cases of the Kugelberg-Welander syndrome,"-15 and we natural selection. However, a critical flaw in all the above found raised levels in 2 of our 19 patients-in 1 of them up to reasoning is that we have not been told how many of the six times the normal upper limit. Furthermore histological colour-blind men in the urban community were siblings and " " appearances resembling myopathic change may be found in could therefore have acquired their alcoholism from social 6. Varadi, S. Lan cet, 1966, ii, 965. proximity to an alcoholic parent. 7 Schrumpf, A. ibid. p. 1313. It would be interesting to repeat the investigation in a 8. Araki, S., Iwashita, H., Kuroiwa, Y. Lancet, 1966, ii, 1362. country of fairly balanced genetic constitution such as England, 9. Myrianthopoulos, N. C., Lane, M. H., Silberberg, D. H., Vincent, B. L. where the incidence of alcoholism varies in different areas. Brain, 1964, 87, 589. 10. Gardner-Medwin, D., Hudgson, P., Walton, J. N. J. neurol. Sci. (in the press). M. G. JACOBY. 11. 12.
Dubowitz, V. Brain, 1964, 87, 707. Tsukagoshi, H., Nakaniski, T., Kondo, K. and Tsubaki, T. Archs Neurol. 1965, 12, 597. 13. Tsukagoshi, H., Sugita, H., Furukawa, T., Tsubaki, T., Ono, E. ibid. 1966, 14, 378. 14. Gross, M. J. Neural. Neurosurg. Psychiat. 1966, 29, 29. 15. Graveleau, D., Fontaine, J.-L., Laplane, R. Annls pédiat.
1965, 12, 439.
16. 17. 18. 19. 20. 21.
Wohlfart, G., Fex, J., Eliasson, S. Acta. psychiat. neurol. Scand. 30, 395. Haase, G. R., Shy, G. M. Brain, 1960, 83, 631. Gold, S. Lancet, 1966, ii, 1417. Pullar-Strecker, H. ibid. 1952, ii, 537. Int. J. Alcohol, 1955, 1, 98, 171; ibid. 1957, 2, 40. Cruz-Coke, R., Varela, A. Lancet, 1966, ii, 1282.
Scandinavica. Department of Mental Health, Department of Medicine, Department of Pathology, Department of Medicine, University of Aberdeen.
J. G. HENDERSON R. W. STRACHAN J. SWANSON BECK A. A. DAWSON.
ATYPICAL PROGRESSIVE MUSCULAR ATROPHY SIR,-We were intrigued by the case of atypical progressive muscular atrophy reported by Dr. Araki and his co-workers.s The combination of bulbar and facial weakness, distal wasting and weakness of the limb muscles, sensory deficit, delayed motor and sensory nerve conduction, and raised serumcreatine-kinase levels is certainly most unusual in the conditions
cases. 10 .12
14 16
In our view this should not necessarily be taken to imply that in these conditions a primary myopathic process is present besides disease of the motor neurone. Probably the same is true of the occasional " myopathic " histological appearances found in muscle obtained from cases of CharcotMarie-Tooth disease 17; on the other hand these changes occurring in such cases with long-standing denervation atrophy may explain the raised serum-creatine-kinase levels which are sometimes found. The rise in serum-creatine-kinase activity in certain relatives of the case described by Araki et al. is much more difficult to explain unless they were heterozygous " carriers " of the gene responsible for this disease. It would be interesting to measure nerve-conduction velocity in some of these relatives, and even perhaps to carry out muscle biopsy to see whether further evidence could be obtained to suggest that this was so. Muscular Dystrophy DAVID GARDNER-MEDWIN Research Laboratories, PETER HUDGSON Newcastle General Hospital, Newcastle upon Tyne 4. JOHN N. WALTON. some
they listed as diagnostic possibilities, including the Kugelberg-Welander syndrome and Charcot-Marie-Tooth
which
A SKINFUL OF ALCOHOL SIR,-A bellyful really: this is what provoked the welcome explosion described by Dr. Gold, 18 Welcome, because of the several substances producing, as side-effect, hypersensitivity to alcohol 19 20, so far only two (another being under investigation) admit of practical application: ’Antabuse’ (disulfiram) and , Abstem ’ (calcium carbamide). In ’Tetmosol’ (monosulfiram) Dr. Gold has added a third and-which is entirely newone that works via the skin. Wyke House, H. PULLAR-STRECKER. Isleworth, Middlesex.
disease. The problem of the classification of familial disorders of the lower motor neurone is already so confused that we feel sure that Dr. Araki and his colleagues are wise to report the facts of their case without any implication that they are describing a new disease entity. It has recently been suggested that CharcotMarie-Tooth disease, for example, is but one of a wide spectrum of genetically determined disorders of the nervous system ALCOHOLISM AND COLOUR-BLINDNESS including the hereditary ataxias and even the hereditary parkinsonism-dementia complex.After studying 19 cases of benign SIR,—I read with interest the hypothesis by Dr. Cruz-Coke spinal muscular atrophy seen in this unit 10 we find this concept and Dr. Varela 21 in which it is suggested that there is a genetic attractive, and in particular feel confident that the Kugelberg- tendency towards alcoholism and that the gene which causes Welander syndrome and Werdnig-Hoffmann disease have a this tendency is on the X chromosome near to the gene causing common genetic basis (being occasionally seen in the same colour-blindness. family). Peroneal muscular atrophy may also have a close On a basis of natural selection according to Darwin, being genetic relationship to these conditions, because cases with colour-blind is an unfavourable trait, and the possessor of such intermediate clinical features may be found. For example, a trait would therefore tend to have a more difficult time to among our cases of benign spinal muscular atrophy were 2 make his way in the world, however slightly he might feel unrelated boys, aged 8 and 14, who had clinical, electromyorejected. The more sophisticated the community in which he graphic, and histological evidence of anterior-horn-cell disease, lived the more difficulty he might be expected to have. but their muscular involvement was predominantly distal in all According to the figures given by Dr. Cruz-Coke and Dr. four limbs and they also had bulbar weakness. There was no Varela for people living in Northern Chile, in the five comsensory loss. In one of them motor-nerve conduction was normunities of seminomadic and rural villages investigated no mal, but in the other electromyography showed some evidence person who was colour-blind was an alcoholic, although up to of active denervation (fibrillation potentials) and motor-nerve 6% of the population were colour-blind and up to 3% were conduction was slowed. In the latter case the cerebrospinal alcoholic. Only in an urban community was there any correlafluid was examined and was found to be normal. Neither child tion, 18% of the sample being colour-blind, 16% being had a positive family history. Thus in certain respects they alcoholic, and 10% being both; Caucasian admixture was 47% resembled the case of Araki et al. but in both cases the serumin this sample, compared with 2-15% in the first five samples. creatine-kinase was normal. A much more likely hypothesis than a genetic origin of the Raised serum-creatine-kinase levels have been reported in alcoholism in the urban community might be that of darwinian many cases of the Kugelberg-Welander syndrome,"-15 and we natural selection. However, a critical flaw in all the above found raised levels in 2 of our 19 patients-in 1 of them up to reasoning is that we have not been told how many of the six times the normal upper limit. Furthermore histological colour-blind men in the urban community were siblings and " " appearances resembling myopathic change may be found in could therefore have acquired their alcoholism from social 6. Varadi, S. Lan cet, 1966, ii, 965. proximity to an alcoholic parent. 7 Schrumpf, A. ibid. p. 1313. It would be interesting to repeat the investigation in a 8. Araki, S., Iwashita, H., Kuroiwa, Y. Lancet, 1966, ii, 1362. country of fairly balanced genetic constitution such as England, 9. Myrianthopoulos, N. C., Lane, M. H., Silberberg, D. H., Vincent, B. L. where the incidence of alcoholism varies in different areas. Brain, 1964, 87, 589. 10. Gardner-Medwin, D., Hudgson, P., Walton, J. N. J. neurol. Sci. (in the press). M. G. JACOBY. 11. 12.
Dubowitz, V. Brain, 1964, 87, 707. Tsukagoshi, H., Nakaniski, T., Kondo, K. and Tsubaki, T. Archs Neurol. 1965, 12, 597. 13. Tsukagoshi, H., Sugita, H., Furukawa, T., Tsubaki, T., Ono, E. ibid. 1966, 14, 378. 14. Gross, M. J. Neural. Neurosurg. Psychiat. 1966, 29, 29. 15. Graveleau, D., Fontaine, J.-L., Laplane, R. Annls pédiat.
1965, 12, 439.
16. 17. 18. 19. 20. 21.
Wohlfart, G., Fex, J., Eliasson, S. Acta. psychiat. neurol. Scand. 30, 395. Haase, G. R., Shy, G. M. Brain, 1960, 83, 631. Gold, S. Lancet, 1966, ii, 1417. Pullar-Strecker, H. ibid. 1952, ii, 537. Int. J. Alcohol, 1955, 1, 98, 171; ibid. 1957, 2, 40. Cruz-Coke, R., Varela, A. Lancet, 1966, ii, 1282.