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X-Linked Spinal Muscular Atrophy (Kennedy's Syndrome): A Kindred With Hypobetalipoproteinemia

X-Linked Spinal Muscular Atrophy (Kennedy's Syndrome): A Kindred With Hypobetalipoproteinemia Abstract • Kennedy's syndrome, X-linked adultonset bulbospinal muscular atrophy, has been described in over 30 families. The characteristic distribution of weakness creates a recognizable syndrome, augmented by frequent findings of testicular atrophy and gynecomastia. Type IV or type II hyperlipoproteinemia has been found in some families. We have studied another family with Kennedy's syndrome, this one with hypobetalipoproteinemia. The diversity of serum patterns suggests that lipoprotein abnormalities are not causally related to either the endocrinopathy or the spinal muscular atrophy. However, gene linkage studies indicate proximity of the gene for Kennedy's syndrome and the gene encoding the androgen receptor, which could explain the combination of a motor neuron disorder and the endocrine abnormalities. References 1. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait . Neurology . 1968;18:671-680.Crossref 2. Schoenen J, Delwaide PJ, LeGros JJ, Franchimont P. Motoneuropathie hereditaire: la forme proximale de l'adulte liee au sexe (ou maladie de Kennedy) observations cliniques et neuroendocrinologiques . J Neurol Sci . 1979;41:343-357.Crossref 3. Yamamoto R, Shimada T, Takenaka M, Konishi S, Mozai T. Two cases of progressive bulbospinal muscular atrophy of sex-linked recessive trait (Kennedy-Alter-Sung) with type IV hyperlipoproteinemia and fatty liver . Clin Neurol . 1984;24:441-446. 4. Guidetti D, Motti L, Marcello N, et al. Kennedy disease in an Italian kindred . Eur Neurol . 1986;25:188-196.Crossref 5. Quarfordt SH, DeVivo DH, Engel WK, Levy RI, Fredrickson DS. Familial adult-onset proximal spinal muscular atrophy: report of a family with type II hyperlipoproteinemia . Arch Neurol . 1970;22:541-549.Crossref 6. Electromyography: Sensory and Motor Conduction: Findings in Normal Subjects . Copenhagen, Denmark: Rigshospitalet Laboratory of Clinical Neurophysiology; 1975. 7. Stalberg E, Trontelj J. Single Fiber Electromyography . Old Woking, England: The Miraville Press Ltd; 1979. 8. Arbizu T, Santamaria J, Gomez JM, Quilez A, Serra JP. A family with muscular atrophy, X-linked inheritance and associated testicular failure . J Neurol Sci . 1983;59:371-382.Crossref 9. Barkhaus PE, Kennedy WR, Stern LZ, Harrington RB. Hereditary proximal spinal and bulbar motor neuron disease of late onset . Arch Neurol . 1982;39:112-116.Crossref 10. Harding AE, Thomas PK, Baraitser M, Bradbury PG, Morgan-Hughes JA, Pousford JR. X-linked recessive bulbospinal neuronopathy: a report of ten cases . J Neurol Neurosurg Psychiatry . 1982;45:1012-1019.Crossref 11. Hausmanowa-Petrusewicz I, Borkowska J, Janczewski Z. X-linked adult form of spinal muscular atrophy . J Neurol . 1983;229:175-188.Crossref 12. Nagashima M. Three cases of bulbospinal muscular atrophy in a family: comparison of testicular tissue with clinical findings . Clin Neurol . 1984;24:50-55. 13. Papapetropoulos T, Panayiotopoulos CP. X-linked spinal and bulbar muscular atrophy of late onset (Kennedy-Stefanis disease?) . Eur Neurol . 1981;20:485-488.Crossref 14. Ringel SP, Lava NS, Treihaft MM, Lubs ML. Late-onset X-linked recessive spinal and bulbar muscular atrophy . Muscle Nerve . 1978;1:297-307.Crossref 15. Serratrice G, Guastalla P. L'amyotrophie bulbo-spinale chronique de transmission recessive liee à l'X (type Kennedy-Stefanis): apropos d'une observation . Semin Hop Paris . 1984;60:1003-1005. 16. Serratrice G, Pellissier JR, Pouget J, Saint-Jean JC. Un syndrome neuro-endocrinien: l'amyotrophie spinale pseudo-myopathique avec gynecomastie liee au chromosome X . Presse Med . 1987;77:299-302. 17. Stefanis C, Papapetropoulos T, Scarpalezos S, Lygidakis G. Panayiotopoulos CP. X-linked spinal and bulbar muscular atrophy of late onset: a separate type of motor neuron disease? J Neurol Sci . 1975;24:493-503.Crossref 18. Tsukagashi H, Shoji H, Furukawa T. Proximal neurogenic muscular atrophy in adolescence and adulthood with X-linked recessive inheritance: Kugelberg-Welander disease and its variant of late onset in one pedigree . Neurology . 1970;20:1188-1193.Crossref 19. Wilde J, Moss T, Thrush D. X-linked bulbospinal neuronopathy: a family study of three patients . J Neurol Neurosurg Psychiatry . 1987;50:279-284.Crossref 20. Kurland LT. Epidemiologic investigations of amyotrophic lateral sclerosis, III: a genetic interpretation of incidence and geographic distribution . Mayo Clin Proc . 1957;32:449-462. 21. Magee K. Familial progressive bulbar-spinal muscular atrophy . Neurology . 1960;10:295-305.Crossref 22. Tsukagashi H, Nakanishi T, Kondo K, Tsubaki T. Hereditary proximal neurogenic muscular atrophy in adults . Arch Neurol . 1965;12:596-601. 23. Fischbeck KH, Ionasescu V, Ritter AW, et al. Localization of the gene for X-linked spinal muscular atrophy . Neurology . 1986;36:1595-1598.Crossref 24. Sobue G, Hashizume Y, Mukai E, Hirayama M, Mitsuma T, Takahashi A. X-linked recessive bulbospinal neuronopathy: a clinicopathological study . Brain . 1989;112:209-232.Crossref 25. Mukai E, Ishihara Y, Sobue G, Kaneshima H, Hirabayashi N. One autopsy case of bulbospinal muscular atrophy in adult males . Clin Neurol . 1981;21:228-233. 26. Nagashima Y, Tsubaki T, Mannen T, et al. Two autopsied cases of X-linked recessive bulbospinal muscular atrophy with sensory neuropathy and testicular atrophy . In: Proceedings of the 28th meeting of the Japanese Society of Neuropathology ; 1987; Kobe, Japan. Pages 391-401. 27. Fischbeck KH, ar-Rushdi N, Pericak-Vance M, Rozear M, Roses AD, Fryns JP. X-linked neuropathy: gene localization with DNA probes . Ann Neurol . 1986;20:527-532.Crossref 28. Herbert PN, Assmann G, Gotto AM, Fredrickson DS. Familial lipoprotein deficiency: abetalipoproteinemia, hypobetalipoproteinemia, and Tangier disease . In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds. The Metabolic Basis of Inherited Disease . 5th ed. New York, NY: McGraw-Hill International Book Co; 1983:589-592. 29. Berger GMB, Brown G, Henderson HE, Bonnici F. Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinemia: implications for aetiology . J Med Genet . 1983;20:189-195.Crossref 30. Biemer JJ, McCammon RE. The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurrence of both diseases within the same family . J Lab Clin Med . 1976;85:556-565. 31. Cottrill C, Glueck CJ, Leuba V, Millett F, Puppione D, Brown WV. Familial homozygous hypolipoproteinemia . Metabolism . 1974;23:779-791.Crossref 32. Fosbrooke A, Choksey S, Wharton B. Familial hypobetalipoproteinaemia . Arch Dis Child . 1973;48:729-732.Crossref 33. Illingworth DR, Corbin DK, Kemp ED, Keenan EJ. Hormone changes during the menstrual cycle in abetalipoproteinemia: reduced luteal phase progesterone in a patient with homozygous hypobetalipoproteinemia . Proc Natl Acad Sci USA . 1982;79:6685-6689.Crossref 34. Kuo PT, Bassett DR. Blood and tissue lipids in a family with hypobetalipoproteinemia . Circulation . 1962;26:660. 35. Mars H, Lewis LA, Robertson AL, Butkus A, Williams GH. Familial hypobetalipoproteinemia: a genetic disorder of lipid metabolism with nervous system involvement . Am J Med . 1969;46:886-900.Crossref 36. Mawatari S, Iwashita H, Kuroiwa Y. Familial hypobetalipoproteinaemia . J Neurol Sci . 1972;16:93-101.Crossref 37. Richet PG, Durepaire H, Hartmann L, Ollier MP, Polonovski J, Maitrot B. Hypolipoproteinemie familiale asymptomatique predominant sur les betalipoproteines . Presse Med . 1969;77:2045-2048. 38. Salt HB, Wolff OH, Lloyd JK, Fosbrooke AS, Cameron AH, Hubble DV. On having no beta-lipoprotein: a syndrome comprising abetalipoproteinemia, acanthocytosis and steatorrhea . Lancet . 1960;2:325-329.Crossref 39. Van Buchem FSP, Pol G, De Gier J, Bottcher CJF, Pries C. Congenital beta-lipoprotein deficiency . Am J Med . 1966;40:794-804.Crossref 40. Dahl DS, Peters HA. Lipid disturbances associated with spinal muscular atrophy . Arch Neurol . 1975;32:195-203.Crossref 41. Gustafson A, Stortebecker P. Vascular and metabolic studies of amyotrophic lateral sclerosis, II: lipid and carbohydrate metabolism . Neurology . 1972;22:528-536.Crossref 42. Sar M, Strumpf WE. Androgen concentration in motor neurons of cranial nerves and spinal cord . Science . 1977;197:77-80.Crossref 43. Weiner LP. Possible role of androgen receptors in amyotrophic lateral sclerosis: a hypothesis . Arch Neurol . 1980;37:129-131.Crossref 44. Aiman J, Griffin JE. The frequency of androgen receptor deficiency in infertile men . J Clin Endocrinol Metab . 1982;54:725-731.Crossref 45. Griffin JE, Wilson JD. The syndromes of androgen resistance . N Engl J Med . 1980;302:198-208.Crossref 46. Jones TM, Yu R, Antel JP. Response of patients with amyotrophic lateral sclerosis to testosterone therapy . Arch Neurol . 1982;39:721-722.Crossref 47. Chang C, Kokontis J, Liao S. Molecular cloning of human and rat complementary DNA encoding androgen receptors . Science . 1988;240:324-326.Crossref 48. Lubahn DB, Joseph DR, Sullivan PM, Willard HF, French FS, Wilson EM. Cloning of human androgen receptor complementary DNA and localization to the X chromosome . Science . 1988;240:327-330.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

X-Linked Spinal Muscular Atrophy (Kennedy's Syndrome): A Kindred With Hypobetalipoproteinemia

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Publisher
American Medical Association
Copyright
Copyright © 1990 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1990.00530100087018
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Abstract

Abstract • Kennedy's syndrome, X-linked adultonset bulbospinal muscular atrophy, has been described in over 30 families. The characteristic distribution of weakness creates a recognizable syndrome, augmented by frequent findings of testicular atrophy and gynecomastia. Type IV or type II hyperlipoproteinemia has been found in some families. We have studied another family with Kennedy's syndrome, this one with hypobetalipoproteinemia. The diversity of serum patterns suggests that lipoprotein abnormalities are not causally related to either the endocrinopathy or the spinal muscular atrophy. However, gene linkage studies indicate proximity of the gene for Kennedy's syndrome and the gene encoding the androgen receptor, which could explain the combination of a motor neuron disorder and the endocrine abnormalities. References 1. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait . Neurology . 1968;18:671-680.Crossref 2. Schoenen J, Delwaide PJ, LeGros JJ, Franchimont P. Motoneuropathie hereditaire: la forme proximale de l'adulte liee au sexe (ou maladie de Kennedy) observations cliniques et neuroendocrinologiques . J Neurol Sci . 1979;41:343-357.Crossref 3. Yamamoto R, Shimada T, Takenaka M, Konishi S, Mozai T. Two cases of progressive bulbospinal muscular atrophy of sex-linked recessive trait (Kennedy-Alter-Sung) with type IV hyperlipoproteinemia and fatty liver . Clin Neurol . 1984;24:441-446. 4. Guidetti D, Motti L, Marcello N, et al. Kennedy disease in an Italian kindred . Eur Neurol . 1986;25:188-196.Crossref 5. Quarfordt SH, DeVivo DH, Engel WK, Levy RI, Fredrickson DS. Familial adult-onset proximal spinal muscular atrophy: report of a family with type II hyperlipoproteinemia . Arch Neurol . 1970;22:541-549.Crossref 6. Electromyography: Sensory and Motor Conduction: Findings in Normal Subjects . Copenhagen, Denmark: Rigshospitalet Laboratory of Clinical Neurophysiology; 1975. 7. Stalberg E, Trontelj J. Single Fiber Electromyography . Old Woking, England: The Miraville Press Ltd; 1979. 8. Arbizu T, Santamaria J, Gomez JM, Quilez A, Serra JP. A family with muscular atrophy, X-linked inheritance and associated testicular failure . J Neurol Sci . 1983;59:371-382.Crossref 9. Barkhaus PE, Kennedy WR, Stern LZ, Harrington RB. Hereditary proximal spinal and bulbar motor neuron disease of late onset . Arch Neurol . 1982;39:112-116.Crossref 10. Harding AE, Thomas PK, Baraitser M, Bradbury PG, Morgan-Hughes JA, Pousford JR. X-linked recessive bulbospinal neuronopathy: a report of ten cases . J Neurol Neurosurg Psychiatry . 1982;45:1012-1019.Crossref 11. Hausmanowa-Petrusewicz I, Borkowska J, Janczewski Z. X-linked adult form of spinal muscular atrophy . J Neurol . 1983;229:175-188.Crossref 12. Nagashima M. Three cases of bulbospinal muscular atrophy in a family: comparison of testicular tissue with clinical findings . Clin Neurol . 1984;24:50-55. 13. Papapetropoulos T, Panayiotopoulos CP. X-linked spinal and bulbar muscular atrophy of late onset (Kennedy-Stefanis disease?) . Eur Neurol . 1981;20:485-488.Crossref 14. Ringel SP, Lava NS, Treihaft MM, Lubs ML. Late-onset X-linked recessive spinal and bulbar muscular atrophy . Muscle Nerve . 1978;1:297-307.Crossref 15. Serratrice G, Guastalla P. L'amyotrophie bulbo-spinale chronique de transmission recessive liee à l'X (type Kennedy-Stefanis): apropos d'une observation . Semin Hop Paris . 1984;60:1003-1005. 16. Serratrice G, Pellissier JR, Pouget J, Saint-Jean JC. Un syndrome neuro-endocrinien: l'amyotrophie spinale pseudo-myopathique avec gynecomastie liee au chromosome X . Presse Med . 1987;77:299-302. 17. Stefanis C, Papapetropoulos T, Scarpalezos S, Lygidakis G. Panayiotopoulos CP. X-linked spinal and bulbar muscular atrophy of late onset: a separate type of motor neuron disease? J Neurol Sci . 1975;24:493-503.Crossref 18. Tsukagashi H, Shoji H, Furukawa T. Proximal neurogenic muscular atrophy in adolescence and adulthood with X-linked recessive inheritance: Kugelberg-Welander disease and its variant of late onset in one pedigree . Neurology . 1970;20:1188-1193.Crossref 19. Wilde J, Moss T, Thrush D. X-linked bulbospinal neuronopathy: a family study of three patients . J Neurol Neurosurg Psychiatry . 1987;50:279-284.Crossref 20. Kurland LT. Epidemiologic investigations of amyotrophic lateral sclerosis, III: a genetic interpretation of incidence and geographic distribution . Mayo Clin Proc . 1957;32:449-462. 21. Magee K. Familial progressive bulbar-spinal muscular atrophy . Neurology . 1960;10:295-305.Crossref 22. Tsukagashi H, Nakanishi T, Kondo K, Tsubaki T. Hereditary proximal neurogenic muscular atrophy in adults . Arch Neurol . 1965;12:596-601. 23. Fischbeck KH, Ionasescu V, Ritter AW, et al. Localization of the gene for X-linked spinal muscular atrophy . Neurology . 1986;36:1595-1598.Crossref 24. Sobue G, Hashizume Y, Mukai E, Hirayama M, Mitsuma T, Takahashi A. X-linked recessive bulbospinal neuronopathy: a clinicopathological study . Brain . 1989;112:209-232.Crossref 25. Mukai E, Ishihara Y, Sobue G, Kaneshima H, Hirabayashi N. One autopsy case of bulbospinal muscular atrophy in adult males . Clin Neurol . 1981;21:228-233. 26. Nagashima Y, Tsubaki T, Mannen T, et al. Two autopsied cases of X-linked recessive bulbospinal muscular atrophy with sensory neuropathy and testicular atrophy . In: Proceedings of the 28th meeting of the Japanese Society of Neuropathology ; 1987; Kobe, Japan. Pages 391-401. 27. Fischbeck KH, ar-Rushdi N, Pericak-Vance M, Rozear M, Roses AD, Fryns JP. X-linked neuropathy: gene localization with DNA probes . Ann Neurol . 1986;20:527-532.Crossref 28. Herbert PN, Assmann G, Gotto AM, Fredrickson DS. Familial lipoprotein deficiency: abetalipoproteinemia, hypobetalipoproteinemia, and Tangier disease . In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds. The Metabolic Basis of Inherited Disease . 5th ed. New York, NY: McGraw-Hill International Book Co; 1983:589-592. 29. Berger GMB, Brown G, Henderson HE, Bonnici F. Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinemia: implications for aetiology . J Med Genet . 1983;20:189-195.Crossref 30. Biemer JJ, McCammon RE. The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurrence of both diseases within the same family . J Lab Clin Med . 1976;85:556-565. 31. Cottrill C, Glueck CJ, Leuba V, Millett F, Puppione D, Brown WV. Familial homozygous hypolipoproteinemia . Metabolism . 1974;23:779-791.Crossref 32. Fosbrooke A, Choksey S, Wharton B. Familial hypobetalipoproteinaemia . Arch Dis Child . 1973;48:729-732.Crossref 33. Illingworth DR, Corbin DK, Kemp ED, Keenan EJ. Hormone changes during the menstrual cycle in abetalipoproteinemia: reduced luteal phase progesterone in a patient with homozygous hypobetalipoproteinemia . Proc Natl Acad Sci USA . 1982;79:6685-6689.Crossref 34. Kuo PT, Bassett DR. Blood and tissue lipids in a family with hypobetalipoproteinemia . Circulation . 1962;26:660. 35. Mars H, Lewis LA, Robertson AL, Butkus A, Williams GH. Familial hypobetalipoproteinemia: a genetic disorder of lipid metabolism with nervous system involvement . Am J Med . 1969;46:886-900.Crossref 36. Mawatari S, Iwashita H, Kuroiwa Y. Familial hypobetalipoproteinaemia . J Neurol Sci . 1972;16:93-101.Crossref 37. Richet PG, Durepaire H, Hartmann L, Ollier MP, Polonovski J, Maitrot B. Hypolipoproteinemie familiale asymptomatique predominant sur les betalipoproteines . Presse Med . 1969;77:2045-2048. 38. Salt HB, Wolff OH, Lloyd JK, Fosbrooke AS, Cameron AH, Hubble DV. On having no beta-lipoprotein: a syndrome comprising abetalipoproteinemia, acanthocytosis and steatorrhea . Lancet . 1960;2:325-329.Crossref 39. Van Buchem FSP, Pol G, De Gier J, Bottcher CJF, Pries C. Congenital beta-lipoprotein deficiency . Am J Med . 1966;40:794-804.Crossref 40. Dahl DS, Peters HA. Lipid disturbances associated with spinal muscular atrophy . Arch Neurol . 1975;32:195-203.Crossref 41. Gustafson A, Stortebecker P. Vascular and metabolic studies of amyotrophic lateral sclerosis, II: lipid and carbohydrate metabolism . Neurology . 1972;22:528-536.Crossref 42. Sar M, Strumpf WE. Androgen concentration in motor neurons of cranial nerves and spinal cord . Science . 1977;197:77-80.Crossref 43. Weiner LP. Possible role of androgen receptors in amyotrophic lateral sclerosis: a hypothesis . Arch Neurol . 1980;37:129-131.Crossref 44. Aiman J, Griffin JE. The frequency of androgen receptor deficiency in infertile men . J Clin Endocrinol Metab . 1982;54:725-731.Crossref 45. Griffin JE, Wilson JD. The syndromes of androgen resistance . N Engl J Med . 1980;302:198-208.Crossref 46. Jones TM, Yu R, Antel JP. Response of patients with amyotrophic lateral sclerosis to testosterone therapy . Arch Neurol . 1982;39:721-722.Crossref 47. Chang C, Kokontis J, Liao S. Molecular cloning of human and rat complementary DNA encoding androgen receptors . Science . 1988;240:324-326.Crossref 48. Lubahn DB, Joseph DR, Sullivan PM, Willard HF, French FS, Wilson EM. Cloning of human androgen receptor complementary DNA and localization to the X chromosome . Science . 1988;240:327-330.Crossref

Journal

Archives of Neurology – American Medical Association

Published: Oct 1, 1990

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