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Evidence that Charcot-Marie-Tooth disease with tremor coincides with the Roussy-Levy syndrome

Published online by Cambridge University Press:  18 September 2015

F. Barbieri ,
A. Filla ,
M. Ragno ,
C. Crisci ,
L. Santoro ,
M. Corona  and
G. Campanella
M. Ragno
Affiliation:
Departments of Neurology and Clinical Neurophysiology, School of Veterinary Medicine, University of Naples, Naples, Italy
C. Crisci
Affiliation:
Departments of Neurology and Clinical Neurophysiology, School of Veterinary Medicine, University of Naples, Naples, Italy
L. Santoro
Affiliation:
Departments of Neurology and Clinical Neurophysiology, School of Veterinary Medicine, University of Naples, Naples, Italy
M. Corona
Affiliation:
Second School of Medicine and Laboratory of electron Microscopy, Department of Anatomy, School of Veterinary Medicine, University of Naples, Naples, Italy
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Abstract

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We report data on 3 members of a family affected by a dominantly inherited disorder closely resembling Roussy-Levy syndrome (RLS). Electrophysiological findings showed a marked decrease of motor and sensory conduction velocities and EMG signs of mild neurogenic damage. Light and electron microscopy of sural nerve biopsy showed a hypertrophic neuropathy with diffuse onion-bulb formations and marked decrease of large size fibers. Teased fiber preparations evidenced reduced internodal lengths and segmental demyelination. Other data from the literature on RLS are reviewed and discussed. The hypothesis that RLS is not a disease entity but a hypertrophic-type of Charcot-Marie-Tooth disease with essential tremor (HMSN type 1) is strongly supported.

Type
A—Clinical Studies
Information
Canadian Journal of Neurological Sciences , Volume 11 , Issue S4 , November 1984 , pp. 534 - 540
Copyright
Copyright © Canadian Neurological Sciences Federation 1984

References

Barbieri, F, Russo, E, Corona, M and Cecio, A (1982) Light and electron microscopic study of the sural nerve biopsies in 13 patients with Friedreich’s ataxia. Caryologia 35: 147–148.Google Scholar
Behse, F, Buchthal, F, Carlsen, F and Knappeis, GC (1972) Hereditary neuropathy with liability to pressure palsies. Brain 95: 777–794.CrossRefGoogle ScholarPubMed
Behse, F, Buchthal, F, Carlsen, F and Knappeis, GC (1974) Endoneurial space and its constituents in the sural nerve of patients with polyneuropathy. Brain 97: 773–784.CrossRefGoogle Scholar
Behse, F and Buchthal, F (1977) Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in the sural nerves. Brain 100: 67–85.CrossRefGoogle ScholarPubMed
Boveri, PDe la nfivrite hypertrophique familiale (type Pierre Marie). Sem Med Paris 13: 145–150.Google Scholar
Buchthal, F and Rosenfalk, A (1966) Evoked action potentials and conduction velocity in human sensory nerves. Brain Res 3: 1–122.CrossRefGoogle Scholar
Campanella, G, Filla, A, De Falco, FA, Mansi, D, Durivage, A and Barbeau, A (1980) Friedreich’s ataxia in the South of Italy: a clinical and biochemical survey of 23 patients. Can J Neurol Sci 7: 351:357.CrossRefGoogle ScholarPubMed
Caruso, G, Santoro, L, Perretti, A, Serlenga, L, Ragno, M, Crisci, C, Barbieri, F and Filla, A (1983) Friedreich’s ataxia: electrophysiological and histological aspects. Acta Neurol Scand 67: 26–42.CrossRefGoogle Scholar
Dyck, PJ and Lambert, EH (1968) Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. Neurologic, genetic and electrophysiological findings in hereditary polyneuropathies. Arch Neurol 18: 603–618.CrossRefGoogle ScholarPubMed
Dyck, PJ, Thomas, PK and Lambert, EH (1975) Peripheral neuropathy. Philadelphia: Saunders, pp 834–855.Google ScholarPubMed
Filla, A, Carlomagno, S, Di Iorio, G, Federico, A, Guadagnino, M and Campanella, G (1981) Epidemiological study of inherited ataxias in Campania (a region of southern Italy). Pharmacology 22: 66–67.Google Scholar
Kriel, RL, Cliffer, KD, Berry, J, Sung, JH and Blond, CS (1974) Investigation of a family with hypertrophic neuropathy resembling Roussy-Levy syndrome. Neurology (Minneap) 24: 801–809.CrossRefGoogle ScholarPubMed
Lapresle, J and Salisachs, P (1973) Onion bulbs in a nerve biopsy specimen from an original case of Roussy-Levy disease. Arch Neurol 29: 346–348.CrossRefGoogle Scholar
Lascelles, RG, Baker, IA and Thomas, PK (1970) Hereditary polyneuropathy of Roussy-Levy type with associated cardiomyopathy. Guy Hosp Rep 119: 253–262.Google ScholarPubMed
Marie, P (1906) Forme spéciale de névrite interstitielle hypertrophique progressive de I’enfance. Rev Neurol 14: 557–559.Google Scholar
Martinelli, P, Pazzaglia, P, Montagna, P, Tinuper, P, Moretto, G, Rizzuto, N and Lugaresi, E (1978) Peroneal muscular atrophy (PMA) with postural tremor. In: Canal, Nnpozza, G. eds. Peripheral neuropathies. Developments in Neurology 11: 441–446.Google Scholar
Oelschlager, R, White, HM and Neil Shimke, R (1965) Roussy-Levy syndrome: report of kindred and discussion of the nosology. Arch Neurol 13: 432–440.Google Scholar
Paolozzi, C, Bravaccio, F, Sanna, G, Tata, MR and Guazzi, GC (1973) Analisi del biotipo neurologico della malattia di Roussy-Levy dedotto dallo studio della famiglia Ver.“La malattia dei piedi falsi”. Acta Neurol 28: 501–531.Google Scholar
Raymond, F (1900–1901) Leçons sur les maladies du système nerveux. 3: 346–365; 6: 203–227.Google Scholar
Roussy, G and Levy, G (1926) Sept cas d’une maladie familiale particulière. Troubles de la marche, pidds bots et ardflexie tendineuse généalisée avec accesoirement légère maladresse des mains. Rev Neurol 2: 427–450.Google Scholar
Salisachs, P (1976) Charcot-Marie-Tooth disease associated with “essential tremor”. J Neurol Sci 28: 17–40.CrossRefGoogle ScholarPubMed
Salisachs, P, Findley, LJ, Codina, M, La Torre, P and Martinezlage, JM (1982) Use and misuse of the Roussy-Levy eponym. J Neurol Neurosurg Psychiatry 45: 938–939.CrossRefGoogle ScholarPubMed
Salisachs, P, Findley, LJ, Codina, M, La Torre, P and Martinezlage, JM (1982) A case of Charcot-Marie-Tooth disease mimicking Friedreich’s ataxia: is there any association between Friedreich’s ataxia and Charcot-Marie-Tooth disease? Can J Neurol Sci 2: 99–104.CrossRefGoogle Scholar
Spillane, JD1 (1940) Familial pes cavus and absent tendon jerks: its relationship with Friedreich’s disease and peroneal muscular atrophy. Brain 63: 275–290.CrossRefGoogle Scholar
Young, RR and Shahani, BT (1979) In: Klawans, HL, ed. Clinical neuropharmacology. New York: Raven Press, pp 139–156.Google Scholar
Yudell, A, Dyck, PJ and Lambert, EH (1965) A kinship with the Roussy-Levy syndrome: aclinical and electrophysiologic study. Arch Neurol 13: 432–440.CrossRefGoogle Scholar