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A Case of Charcot-Marie-Tooth Disease Mimicking Friedreich’s Ataxia: is there any association between Friedreich’s ataxia and Charcot-Marie-Tooth disease?

Published online by Cambridge University Press:  18 September 2015

P. Salisachs ,
L.J. Findley ,
M. Codina ,
P. La Torre  and
J.M. Martinez-Lage
P. Salisachs
Affiliation:
Neurological Services, Ciudad Sanitaria de la Seguridad Social, Badatala, Barcelona, Spain
L.J. Findley
Affiliation:
Regional Neurological Centre, Oldchurch Hospital, Romford, England
M. Codina
Affiliation:
Hospital de la Santa Cruz y de San Pablo, Barcelona
P. La Torre
Affiliation:
Neurological Section, Hospital de la Barceloneta, Barcelona
J.M. Martinez-Lage
Affiliation:
Department of Neurology, University of Pamplona, Navarra, Pamplona, Spain
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The authors report a case of Charcot-Marie-Tooth disease that mimicked Friedreich’s ataxia and featured impaired tendon reflexes in the limbs, incoordination mimicking cerebellar disease in the extremities, extensor plantar responses on both sides, bilateral foot deformity, impaired position sense in the toes, absent vibratory sense in the distal parts of the legs and minimal distal weakness with wasting. Motor conduction velocity in the upper limbs was substantially reduced.

Other cases similar in nature reported in the literature resemble spino-cerebellar degeneration in general, and Friedreich’s ataxia, in particular. It is emphasized that the natural history, EMG, motor conduction velocity studies and examination of other affected members of the family permit the correct diagnosis to be made in such cases. It is also emphasized that patients similar to the one reported here may also resemble, and should be differentiated from, cases of familial dorsal column ataxia (Biemond type). Stress is put upon the fact that when Charcot-Marie-Tooth disease mimicks spino-cerebellar degeneration, substantial slowing of motor conduction in the upper limbs is generally sufficient to establish the diagnosis.

The relation between Friedreich’s ataxia and Charcot-Marie-Tooth disease is reviewed and it is concluded that these two disorders are distinct clinical and pathological entities.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 9 , Issue 2 , May 1982 , pp. 99 - 103
Copyright
Copyright © Canadian Neurological Sciences Federation 1982

References

REFERENCES

Biemond, A. (1954) La forme radiculocordonale postérieure des dégénérescences spino-cérébelleuses. Rev. Neurol 91: 1–21.Google Scholar
Barbeau, A. (1976) Quebec study of Friedreich’s ataxia: co-operative study, phase II. Statement of the problem. Can. J. Neurol. Sci. 3:389–397.CrossRefGoogle Scholar
Bogaert, L. van (1948) Maladies nerveuses systématisées et problèmes de l’hérédité. Acta Neurol. Belg., 48: 339 – 371.Google Scholar
Bogaert, L. van and Moreau, M. (1929) Combination de la maladie de Charcot-Marie-Tooth et de la maladie de Friedreich chez plusieurs membres d’une même famille. Encéphale 40/41: 312–320.Google Scholar
Bouchard, J.P., Barbeau, A., Bouchard, R. and Bouchard, R.W. (1979) Electromyographic and nerve conduction studies in Friedreich’s ataxia and autosomal recessive spastic ataxia of Charlevoy-Saguenay (ARSACS). Can. J. Neurol. Sci., 6: 185 – 189.CrossRefGoogle ScholarPubMed
Dyck, P.J. and Lambert, E.H. (1968) Lower motor and primary sensory neuron diseases with peroneal muscular atrophy Part II. Neurologic, genetic and electrophysiologic findings in various neuronal degenerations. Arch. Neurol. (Chic) 18: 619–625.CrossRefGoogle Scholar
Dyck, P.J., Gutrecht, J.A., Bastron, J.A., Karnes, W.E. and Dale, A.J.D. (1968) Histologic and teased fibre measurements of sural nerve in disorders of lower motor and primary sensory neurons. Proc. Mayo Clin., 43:81–123.Google ScholarPubMed
Escourolle, R. and Hauw, J.J. (1979) Neuropathological findings in Charcot-Marie-Tooth disease. Nosological remarks. In: “Peroneal atrophies and related disorders”. Pub: Masson Publishing USA Inc. New York.Google Scholar
Harding, A.E. (1981) Friedreich’s ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamiliar clustering of clinical features. Brain 104: 589 – 620.CrossRefGoogle Scholar
Hopf, H.C. and Port, F.K. (1968) Friedreich’s ataxia mit Betailgung der peripheren Nerven nact Art der Neuralen Muskelatrophie (Myatrophische ataxie). Disch. Z Nervenheilk 194: 1 – 16.CrossRefGoogle Scholar
Hughes, J.T., Brownell, B. and Hewer, R.L. (1968) The peripheral sensory pathway in Friedreich’s ataxia. Brain 91:803–818.CrossRefGoogle ScholarPubMed
Lascelles, R.G., Baker, L.A. and Thomas, P.K. (1970) Hereditary polyneuropathy of Roussy-Levy type associated with cardiomyopathy. Guy’s Hosp. Rep. 119:253–262.Google ScholarPubMed
Legrand, R., Desrouelles, J. and Manouvrier, A. (1950) Troubles cardiaques dans un cas d’amyotrophie Charcot-Marie-Tooth avec ataxie. Arch. Mal. Coeur. 43: 154–156.Google Scholar
Mcleod, J.G. (1970) An electrophysiological and a pathological study of peripheral nerves in Friedreich’s ataxia. J. Neurol. Sci., 12:333–349.CrossRefGoogle Scholar
Oppenheimer, D.R. (1976) Diseases of the basal ganglia, cerebellum and motor neurons. In: “Greenfield’s Neuropathology”. Edward Arnold, London.Google Scholar
Oppenheimer, D.R. (1979) Brain lesions in Friedreich’s ataxia. Can. J. Neurol. Sci. 6: 173–176.CrossRefGoogle ScholarPubMed
Peyronnard, J.M., Lapointe, L., Bouchard, J.P., Lamontagne, A., Lemieux, B. and Barbeau, A. (1976). Nerve conduction studies and electromyography in Friedreich’s ataxia. Can. J. Neurol. Sci. 3:313–317.CrossRefGoogle ScholarPubMed
Poursines, Y., Cremieux, A. and Roger, J. (1954). Amyotrophic distale de type Charcot-Marie avec nystagmus. Etude clinique et biopsies musculaires. Rev. Neurol. 2:358–361.Google Scholar
Salisachs, P. (1974) La historia natural de la enfermedad de Friedreich. Med. Clin. (Barcelona) 63: 1 – 10.Google Scholar
Salisachs, P. (1976a) Charcot-Marie-Tooth disease associated with essential tremor. Report of 7 cases. J. Neurol. Sci., 289: 17–40.CrossRefGoogle Scholar
Salisachs, P. (1976b) Situacion nosografia de las familias en las que la enfermedad de Friedreich se da con la atrofia de Charcot-Marie-Tooth en el mismo individuo y de aquellas en las que alternan ambas affecciones en differentes miembros existiendo o no la enfermedad de Roussy-Levy. Med. Clin. (Barcelona) 66: 77 – 86.Google Scholar
Salisachs, P. (1979) Jaw reflex in Friedreich’s ataxia. Neurology (Minneap.) 29: 1049 – 1050.CrossRefGoogle Scholar
Salisachs, P. (1981) Unusual presentation of Charcot-Marie-Tooth disease. Incoordination with absent or minimal wasting. Report of 2 cases. J. Neurol. Sci. 50: 175–180.CrossRefGoogle ScholarPubMed
Salisachs, P., Codina, M. and Pradas, J. (1975) Motor conduction velocity in patients with Friedreich’s ataxia. Report of 12 cases. J. Neurol. Sci. 24: 331–337.CrossRefGoogle ScholarPubMed
Salisachs, P., Codina, A., Gimenezroldan, S. and Zarranz, J.J. (1979) Charcot-Marie-Tooth disease associated with essential tremor and normal and/or slightly reduced motor conduction velocity. Report of 7 cases. Europ. Neurol. 18: 49–58.CrossRefGoogle ScholarPubMed
Singh, M., Mehta, M. and Roy, S. (1973) Familial posterior columns ataxia (Biemond’s) with scoliosis. Europ. Neurol. 10: 160–167.CrossRefGoogle ScholarPubMed
Smith, M.J., Espir, M.L.E. and Matthews, W.B. (1978) Familial myoclonic epilepsy with ataxia and neuropathy with additional features of Friedreich’s ataxia and peroneal muscular atrophy. Brain 101: 461–472.CrossRefGoogle ScholarPubMed
Stephens, J.M., Hoover, M.L. and Dent, J. (1958) On familial ataxia, neural amyotrophy and their association with progressive ophthalmoplegia. Brain 81: 556–566.CrossRefGoogle Scholar
Stucki, P. and Luban, B. (1953) Neurale Muskelatrophie and Friedreich’s Tabes. Beobachtungenand hand einer bemischen Sippe. Schweitz. med. Wschr., 83: 399 – 406.Google Scholar
Thomas, P.K., Calne, D.B. and Stewart, G. (1974) Hereditary motor and sensory polyneuropathy. Ann. hum. Genet. 38: 111–153.CrossRefGoogle ScholarPubMed
Tilbery, C.P., Altimari, D.C., Gagliardi-Ferreira, L.C. and Alonso-Nieto, J.L. (1972) Assoc enno ne mesma familia das doencas de Charcot-Marie-Tooth e de Friedreich. Arch. Bras. Neurol. Psiquiat. 30: 158 – 165.CrossRefGoogle Scholar