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The Roussy-Lévy family: from the original description to the gene.
Ann Neurol. 1999 Nov; 46(5):770-3.AN

Abstract

In 1926, Roussy and Lévy described a large family whose members manifested an early onset dominantly inherited gait ataxia, pes cavus, and areflexia, which was eventually associated with distal muscle atrophy, postural tremor, and minor sensory loss. Slow nerve conduction and demyelination of nerve fibers with onion bulb formations in nerve biopsy specimens led to the Roussy-Lévy syndrome (RLS) being considered a variant of demyelinating Charcot-Marie-Tooth disease (CMT-1). In the present article, we report on the long-term follow-up, on nerve biopsy findings, and on the underlying molecular genetic defect in members of the original family studied by Roussy and Lévy. All patients were able to walk during their seventh decade of life. Morphologically, a chronic demyelinating neuropathy with the remarkable aspects of a focally hypertrophic myelin sheath and major loss of myelinated fibers was observed in nerve biopsy specimens of 3 members of this family. Molecular genetic testing identified a previously unknown heterozygous missense point mutation which yielded an Asn131Lys substitution in the extracellular domain of the myelin protein zero (P0). These findings show that the Roussy-Lévy family belongs to the CMT-1B subtype and has original morphological and genetic features.

Authors+Show Affiliations

Department of Neurology, Centre Hospitalier-Universitaire de Bicêtre, Université Paris Sud, Le Kremlin Bicêtre, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10553995

Citation

Planté-Bordeneuve, V, et al. "The Roussy-Lévy Family: From the Original Description to the Gene." Annals of Neurology, vol. 46, no. 5, 1999, pp. 770-3.
Planté-Bordeneuve V, Guiochon-Mantel A, Lacroix C, et al. The Roussy-Lévy family: from the original description to the gene. Ann Neurol. 1999;46(5):770-3.
Planté-Bordeneuve, V., Guiochon-Mantel, A., Lacroix, C., Lapresle, J., & Said, G. (1999). The Roussy-Lévy family: from the original description to the gene. Annals of Neurology, 46(5), 770-3.
Planté-Bordeneuve V, et al. The Roussy-Lévy Family: From the Original Description to the Gene. Ann Neurol. 1999;46(5):770-3. PubMed PMID: 10553995.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The Roussy-Lévy family: from the original description to the gene. AU - Planté-Bordeneuve,V, AU - Guiochon-Mantel,A, AU - Lacroix,C, AU - Lapresle,J, AU - Said,G, PY - 1999/11/30/pubmed PY - 1999/11/30/medline PY - 1999/11/30/entrez SP - 770 EP - 3 JF - Annals of neurology JO - Ann. Neurol. VL - 46 IS - 5 N2 - In 1926, Roussy and Lévy described a large family whose members manifested an early onset dominantly inherited gait ataxia, pes cavus, and areflexia, which was eventually associated with distal muscle atrophy, postural tremor, and minor sensory loss. Slow nerve conduction and demyelination of nerve fibers with onion bulb formations in nerve biopsy specimens led to the Roussy-Lévy syndrome (RLS) being considered a variant of demyelinating Charcot-Marie-Tooth disease (CMT-1). In the present article, we report on the long-term follow-up, on nerve biopsy findings, and on the underlying molecular genetic defect in members of the original family studied by Roussy and Lévy. All patients were able to walk during their seventh decade of life. Morphologically, a chronic demyelinating neuropathy with the remarkable aspects of a focally hypertrophic myelin sheath and major loss of myelinated fibers was observed in nerve biopsy specimens of 3 members of this family. Molecular genetic testing identified a previously unknown heterozygous missense point mutation which yielded an Asn131Lys substitution in the extracellular domain of the myelin protein zero (P0). These findings show that the Roussy-Lévy family belongs to the CMT-1B subtype and has original morphological and genetic features. SN - 0364-5134 UR - https://www.unboundmedicine.com/medline/citation/10553995/The_Roussy_Lévy_family:_from_the_original_description_to_the_gene_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0364-5134&date=1999&volume=46&issue=5&spage=770 DB - PRIME DP - Unbound Medicine ER -