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Lower Motor and Primary Sensory Neuron Diseases With Peroneal Muscular Atrophy: Title and subTitle BreakI. Neurologic, Genetic, and Electrophysiologic Findings in Hereditary Polyneuropathies

Peter James Dyck, MD; Edward H. Lambert, MD
[+] Author Affiliations

Submitted for publication Sept 28, 1967; accepted Jan 8, 1968.

Reprint requests to Mayo Clinic, 200 First St SW, Rochester, Minn 55901 (Dr. Dyck).


Arch Neurol. 1968;18(6):603-618. doi:10.1001/archneur.1968.00470360025002
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THIS report gives the neurologic, genetic, and electrophysiologic findings of a prospective study of kinships with different hereditary neurologic disorders having symmetric neurogenic weakness and atrophy as an early- and often major manifestation. The study was undertaken to obtain more reliable information about the natural history of these disorders, to test the usefulness of electro physiologic studies in distinguishing affected from nonaffected persons, to compare the results of nerve biopsies from representative affected persons with these disorders, and to develop a more meaningful classification. In this, the first of two articles on the subject, the results of neurologic, genetic, and electrophysiologic studies of 67 persons with hypertrophic neuropathy of the Charcot-Marie-Tooth type, five persons with hypertrophic neuropathy of the Dejerine-Sottas type, and 150 unaffected relatives are given. We also wished to determine whether these syndromes were phenotypic variations of one or several diseases or were separate entities on the

REFERENCES

Charcot, J.M., and Marie, P.:  Sur une forme particulière d'atrophie musculaire progressive souvent familial débutant par les pieds et les jambes et atteignant plus tard les mains , Rev Med (Paris) 6:97-138 ( (Feb) ) 1886;.
Tooth, H.H.: The Peroneal Type of Progressive Muscular Atrophy, thesis, London: H. K. Lewis & Co., Ltd., 1886.
Virchow, R.:  Ein Fall von progressiver Muskelatrophie , Virchow Arch Path Anat 8:537, 1855;.
Eulenburg, M.:  Ueber progressive Muskelatrophie , Deutsch Klin (Berlin) 8:129-131, 1856;.
Friedreich, N.: Ueber progressive Muskelatrophie, über wahre und falsche Muskelhypertrophie , Berlin: A. Hirschwald, 1873;.
Bamberger: cited by Schultze, F.9
Hemptenmacher: cited by Schultze, F.9
Eichhorst, H.:  Ueber Heredität der progressiven Muskelatrophie , Berlin Klin Wschr 10:497-499 (Oct 20); 511-514 ( (Oct 27) ) 1873;.
Schultze, F.:  Über die vererbbare neurale oder neurospinale Muskelatrophie , Deutsch Z Nervenheilk 112:1-19 ( (Jan) ) 1930;.
Hoffmann, J.:  Ueber chronische spinale Muskelatrophie im Kindesalter, auf familiärer Basis , Deutsch Z Nervenheilk 3:427-470 ( (May) ) 1893;.
England, A.C., and Denny-Brown, D.:  Severe Sensory Changes, and Trophic Disorder, in Peroneal Muscular Atrophy (Charcot-Marie-Tooth Type) , Arch Neurol 67:1-17 ( (Jan) ) 1952;.
Lidge, R.T., and Chandler, F.A.:  Charcot-Marie-Tooth Disease , J Pediat 43:152-163 ( (Aug) ) 1953;.
Bell, J.: " On the Peroneal Type of Progressive Muscular Atrophy ," in Fisher, R.A. (ed.): Treasury of Human Inheritance: Nervous Diseases and Muscular Dystrophies , London: Cambridge University Press, 1935;, vol 4, pp 69-139.
Marinesco, M.:  Contribution à l'étude de l'amyotrophie Charcot-Marie , Arch Med Exp 6:921-965, 1894;.
Biemond, A.:  Neurotische Muskelatrophie und Friedreichsche Tabes in derselben Familie , Deutsch Z Nervenheilk 104:113-145 ( (June) ) 1928;.
Haase, G.R., and Shy, G.M.:  Pathological Changes in Muscle Biopsies From Patients With Peroneal Muscular Atrophy , Brain 83:631-637 ( (Dec) ) 1960;.
Drachman, D.B., et al:  "Myopathic" Changes in Chronically Denervated Muscle , Arch Neurol 19:14-24 ( (Jan) ) 1967;.
Dyck, P.J.; Beahrs, O.H.; and Miller, R.H.: Peripheral Nerves in Hereditary Neural Atrophies: Number and Diameters of Myelinated Fibers. Communications from the Sixth International Congress of Electroencephalography and Clinical Neurophysiology, Vienna, Sept 5-10, 1965, pp 673-677.
Dyck, P.J., and Lambert, E.H.:  Numbers and Diameters of Nerve Fibers and Compound Action Potential of Sural Nerve: Controls and Hereditary Neuromuscular Disorders , Trans Amer Neurol Assoc 91:214-217, 1966;.
Dyck, P.J.:  Histologic Measurements and Fine Structure of Biopsied Sural Nerve: Normal, and in Peroneal Muscular Atrophy, Hypertrophic Neuropathy, and Congenital Sensory Neuropathy , Mayo Clin Proc 41:742-774 ( (Nov) ) 1966;.
Gutrecht, J.A., and Dyck, P.J.:  Segmental Demyelinization in Peroneal Muscular Atrophy: Nerve Fibers Teased From Sural Nerve Biopsy Specimens , Mayo Clin Proc 41:775-777 ( (Nov) ) 1966;.
Dyck, P.J., et al:  Histologic and Teased-Fiber Measurements of Sural Nerve in Disorders of Lower Motor and Primary Sensory Neurons , Mayo Clin Proc 43:81-123 ( (Feb) ) 1968;.
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Yokomori, K.:  Über Neuritis interstitialis hypertrophica et progressiva (Déjérine and Sottas) mit einem Sektionsbefund , Mitt Med Fakult Univ Tokyo 15:1-48, 1915-1916;.
Cornil, L.; Chalnot, R.; and Thomas:  Névrite hypertrophique progressive non familiale (étude anatomoclinique) , Rev Neurol 1:1187-1192 ( (June) ) 1930;.
Sears, W.G.:  Progressive Hypertrophic Poly-neuritis , J Neurol Psychopath 12:137-147 ( (Oct) ) 1931;.
Russell, W.R., and Garland, H.G.:  Progressive Hypertrophic Polyneuritis With Case Reports , Brain 53:376-384 ( (Oct) ) 1930;.
Villaret, M.; Haguenau, J.; and Klotz, P.H.:  Névrite hypertrophique familiale , Rev Neurol 63:211-218 ( (Feb) ) 1935;.
Cooper, E.L.:  Progressive Familial Hypertrophic Neuritis (Dejerine-Sottas) , Brit Med J 1:793-794 ( (April 18) ) 1936;.
André-van Leeuwen, M., and Moreau, M.:  De la valeur des troubles pupillaires en dehors de la syphilis, comme manifestation d'une affection hérédo-dégénerative: IV. Une souche d'amyotrophie neurale (type névrite hypertrophique) avec troubles pupillaires: Rapports avec la pupillotonie (Adie) et la dystasie aréflexique (Roussy-Lévy) , Mschr Psychiat Neurol 112:121-168, 1946;.
Bruns, G.:  Zur Kenntnis der hypertrophischen Neuritis (Roussy-Cornil) , Beitr Path Anat 111:407-418 ( (June) ) 1951;.
Luban, B.:  2. Neurale Muskelatrophie und hypertrophische Neuritis: Klinischer und genealogischer Beitrag anhand einer bernischen Sippe , Schweiz Arch Neurol Psychiat 68:34-63, 1952;.
Creutzfeldt, H.G.; Curtius, F.; and Krüger, K.H.:  Zur Klinik, Histologie und Genealogie der Déjerine-Sottasschen Krankheit , Arch Psychiat Nervenkr 186:341-360, 1951;.
Austin, J.H.:  Observations on the Syndrome of Hypertrophic Neuritis (The Hypertrophic Interstitial Radiculoneuropathies) , Medicine (Balt) 35:187-237 ( (Sept) ) 1956;.
Bedford, P.D., and James, F.E.:  A Family With the Progressive Hypertrophic Polyneuritis of Dejerine and Sottas , J Neurol Neurosurg Psychiat 19:46-51 ( (Feb) ) 1956;.
Isaacs, H.:  Familial Chronic Hypertrophic Polyneuropathy With Paralysis of the Extremities in Cold Weather , S Afr Med J 34:758-761 ( (Sept 3) ) 1960;.
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Klenk, E., and Kahlke, W.:  Über das Vorkommen der 3.7.11.15-Tetramethyl-hexadecansäure Phytansäure) in den Cholesterinestern und anderen Lipoidfraktionen der Organe bei einem Krankheitsfall unbekannter Genese (Verdacht auf Heredopathia atactica polyneuritiformis [Refsum-Syndrom]) , Hoppe Seyler Z Physiol Chem 333:133-139, 1963;.
Kahlke, W.:  Über das Vorkommen von 3,7,11,15-Tetramethyl-hexadecansäure im Blutserum bei Refsum-Syndrom , Klin Wschr 41:783-785 ( (Aug) ) 1963;.
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Kahlke, W., and Richterich, R.:  Refsum's Disease (Heredopathia Atactica Polyneuritiformis): An Inborn Error of Lipid Metabolism With Storage of 3,7,11,15-Tetramethyl Hexadecanoic Acid: II. Isolation and Identification of the Storage Product , Amer J Med 39:237-241 ( (Aug) ) 1965;.
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Dawson, G.D., and Scott, J.W.:  Recording of Nerve Action Potentials Through the Skin in Man , J Neurol Neurosurg Psychiat 12:259-267 ( (Nov) ) 1959;.
Dyck, P.J., and Gomez, M.R.: Segmental Demyelinization in Dejerine-Sottas Disease: Light, Phase-Contrast, and Electron Microscopic Studies, to be published.
Thomas, P.K., and Lascelles, R.G.:  Hypertrophic Neuropathy , Quart J Med 36:223-238 ( (April) ) 1967;.
Nichols, P.C.; Dyck, P.J.; and Miller, D.R.: Experimental Hypertrophic Neuropathy: Change in Fascicular Area and Fiber Spectrum After Acute Crush Injury, to be published.
Symonds, C.P., and Shaw, M.E.:  Familial Claw-Foot With Absent Tendon-Jerks: A "Forme Fruste" of the Charcot-Marie-Tooth Disease , Brain 49:387-403 ( (Sept) ) 1926;.

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Charcot, J.M., and Marie, P.:  Sur une forme particulière d'atrophie musculaire progressive souvent familial débutant par les pieds et les jambes et atteignant plus tard les mains , Rev Med (Paris) 6:97-138 ( (Feb) ) 1886;.
Tooth, H.H.: The Peroneal Type of Progressive Muscular Atrophy, thesis, London: H. K. Lewis & Co., Ltd., 1886.
Virchow, R.:  Ein Fall von progressiver Muskelatrophie , Virchow Arch Path Anat 8:537, 1855;.
Eulenburg, M.:  Ueber progressive Muskelatrophie , Deutsch Klin (Berlin) 8:129-131, 1856;.
Friedreich, N.: Ueber progressive Muskelatrophie, über wahre und falsche Muskelhypertrophie , Berlin: A. Hirschwald, 1873;.
Bamberger: cited by Schultze, F.9
Hemptenmacher: cited by Schultze, F.9
Eichhorst, H.:  Ueber Heredität der progressiven Muskelatrophie , Berlin Klin Wschr 10:497-499 (Oct 20); 511-514 ( (Oct 27) ) 1873;.
Schultze, F.:  Über die vererbbare neurale oder neurospinale Muskelatrophie , Deutsch Z Nervenheilk 112:1-19 ( (Jan) ) 1930;.
Hoffmann, J.:  Ueber chronische spinale Muskelatrophie im Kindesalter, auf familiärer Basis , Deutsch Z Nervenheilk 3:427-470 ( (May) ) 1893;.
England, A.C., and Denny-Brown, D.:  Severe Sensory Changes, and Trophic Disorder, in Peroneal Muscular Atrophy (Charcot-Marie-Tooth Type) , Arch Neurol 67:1-17 ( (Jan) ) 1952;.
Lidge, R.T., and Chandler, F.A.:  Charcot-Marie-Tooth Disease , J Pediat 43:152-163 ( (Aug) ) 1953;.
Bell, J.: " On the Peroneal Type of Progressive Muscular Atrophy ," in Fisher, R.A. (ed.): Treasury of Human Inheritance: Nervous Diseases and Muscular Dystrophies , London: Cambridge University Press, 1935;, vol 4, pp 69-139.
Marinesco, M.:  Contribution à l'étude de l'amyotrophie Charcot-Marie , Arch Med Exp 6:921-965, 1894;.
Biemond, A.:  Neurotische Muskelatrophie und Friedreichsche Tabes in derselben Familie , Deutsch Z Nervenheilk 104:113-145 ( (June) ) 1928;.
Haase, G.R., and Shy, G.M.:  Pathological Changes in Muscle Biopsies From Patients With Peroneal Muscular Atrophy , Brain 83:631-637 ( (Dec) ) 1960;.
Drachman, D.B., et al:  "Myopathic" Changes in Chronically Denervated Muscle , Arch Neurol 19:14-24 ( (Jan) ) 1967;.
Dyck, P.J.; Beahrs, O.H.; and Miller, R.H.: Peripheral Nerves in Hereditary Neural Atrophies: Number and Diameters of Myelinated Fibers. Communications from the Sixth International Congress of Electroencephalography and Clinical Neurophysiology, Vienna, Sept 5-10, 1965, pp 673-677.
Dyck, P.J., and Lambert, E.H.:  Numbers and Diameters of Nerve Fibers and Compound Action Potential of Sural Nerve: Controls and Hereditary Neuromuscular Disorders , Trans Amer Neurol Assoc 91:214-217, 1966;.
Dyck, P.J.:  Histologic Measurements and Fine Structure of Biopsied Sural Nerve: Normal, and in Peroneal Muscular Atrophy, Hypertrophic Neuropathy, and Congenital Sensory Neuropathy , Mayo Clin Proc 41:742-774 ( (Nov) ) 1966;.
Gutrecht, J.A., and Dyck, P.J.:  Segmental Demyelinization in Peroneal Muscular Atrophy: Nerve Fibers Teased From Sural Nerve Biopsy Specimens , Mayo Clin Proc 41:775-777 ( (Nov) ) 1966;.
Dyck, P.J., et al:  Histologic and Teased-Fiber Measurements of Sural Nerve in Disorders of Lower Motor and Primary Sensory Neurons , Mayo Clin Proc 43:81-123 ( (Feb) ) 1968;.
Dejerine, J., and Sottas, J.:  Sur la névrite interstitielle, hypertrophique et progressive de l'enfance , C R Soc Biol 45:63-96, 1893;.
Dejerine, J.:  Névrite interstitielle hypertrophique et progressive de l'enfance , Rev Med 16:881-925 ( (Nov) ) 1896;.
Boveri, P.:  De la nevrite hypertrophique familiale (type Pierre Marie) , Sem Med (Paris) 30:145-150, 1910;.
Hoffman, J.:  Über progressive hypertrophische Neuritis , Deutsch Z Nervenheilk 44:65-94, 1912;.
Yokomori, K.:  Über Neuritis interstitialis hypertrophica et progressiva (Déjérine and Sottas) mit einem Sektionsbefund , Mitt Med Fakult Univ Tokyo 15:1-48, 1915-1916;.
Cornil, L.; Chalnot, R.; and Thomas:  Névrite hypertrophique progressive non familiale (étude anatomoclinique) , Rev Neurol 1:1187-1192 ( (June) ) 1930;.
Sears, W.G.:  Progressive Hypertrophic Poly-neuritis , J Neurol Psychopath 12:137-147 ( (Oct) ) 1931;.
Russell, W.R., and Garland, H.G.:  Progressive Hypertrophic Polyneuritis With Case Reports , Brain 53:376-384 ( (Oct) ) 1930;.
Villaret, M.; Haguenau, J.; and Klotz, P.H.:  Névrite hypertrophique familiale , Rev Neurol 63:211-218 ( (Feb) ) 1935;.
Cooper, E.L.:  Progressive Familial Hypertrophic Neuritis (Dejerine-Sottas) , Brit Med J 1:793-794 ( (April 18) ) 1936;.
André-van Leeuwen, M., and Moreau, M.:  De la valeur des troubles pupillaires en dehors de la syphilis, comme manifestation d'une affection hérédo-dégénerative: IV. Une souche d'amyotrophie neurale (type névrite hypertrophique) avec troubles pupillaires: Rapports avec la pupillotonie (Adie) et la dystasie aréflexique (Roussy-Lévy) , Mschr Psychiat Neurol 112:121-168, 1946;.
Bruns, G.:  Zur Kenntnis der hypertrophischen Neuritis (Roussy-Cornil) , Beitr Path Anat 111:407-418 ( (June) ) 1951;.
Luban, B.:  2. Neurale Muskelatrophie und hypertrophische Neuritis: Klinischer und genealogischer Beitrag anhand einer bernischen Sippe , Schweiz Arch Neurol Psychiat 68:34-63, 1952;.
Creutzfeldt, H.G.; Curtius, F.; and Krüger, K.H.:  Zur Klinik, Histologie und Genealogie der Déjerine-Sottasschen Krankheit , Arch Psychiat Nervenkr 186:341-360, 1951;.
Austin, J.H.:  Observations on the Syndrome of Hypertrophic Neuritis (The Hypertrophic Interstitial Radiculoneuropathies) , Medicine (Balt) 35:187-237 ( (Sept) ) 1956;.
Bedford, P.D., and James, F.E.:  A Family With the Progressive Hypertrophic Polyneuritis of Dejerine and Sottas , J Neurol Neurosurg Psychiat 19:46-51 ( (Feb) ) 1956;.
Isaacs, H.:  Familial Chronic Hypertrophic Polyneuropathy With Paralysis of the Extremities in Cold Weather , S Afr Med J 34:758-761 ( (Sept 3) ) 1960;.
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Lambert, E.H.; Bastron, J.A.; and Mulder, D.W.: Conduction Velocity of Motor Fibers of Peripheral Nerves in Peroneal Muscular Atrophy (C.M.T. Disease), read before the annual meeting of the American Academy of Neurology, Philadelphia, April 19, 1958.
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Yudell, A.; Dyck, P.J.; and Lambert, E.H.:  A Kinship With the Roussy-Levy Syndrome , Arch Neurol 13:432-440 ( (Oct) ) 1965;.
Slauck:  Über progressive hypertrophische Neuritis (Hoffmannsche Krankheit) , Z Neurol Psychiat 92:34-77, 1924;.
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Thomas, A., and Chausseblanche, L.:  Un cas de névrite hypertrophique et progressive de l'enfance (maladie de Déjérine et Sottas) , Encephale 28:504-530 ( (July-Aug) ) 1933;.
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