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.

Evidence that Charcot-Marie-tooth disease with tremor coincides with the Roussy-Levy syndrome / Barbieri, Fabrizio; Filla, Alessandro; M., Ragno; C., Crisci; Santoro, Lucio; M., Corona; G., Campanella. - In: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES. - ISSN 0317-1671. - ELETTRONICO. - 11:(1984), pp. 534-540.

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

BARBIERI, FABRIZIO;FILLA, ALESSANDRO;SANTORO, LUCIO;
1984

Abstract

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.
1984
Evidence that Charcot-Marie-tooth disease with tremor coincides with the Roussy-Levy syndrome / Barbieri, Fabrizio; Filla, Alessandro; M., Ragno; C., Crisci; Santoro, Lucio; M., Corona; G., Campanella. - In: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES. - ISSN 0317-1671. - ELETTRONICO. - 11:(1984), pp. 534-540.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/479184
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