The Roussy-L�vy family: From the original description to the gene

Autor: Anne Guiochon-Mantel, Gérard Said, J Lapresle, Violaine Planté-Bordeneuve, Catherine Lacroix
Rok vydání: 1999
Předmět:
Zdroj: Annals of Neurology. 46:770-773
ISSN: 1531-8249
0364-5134
DOI: 10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u
Popis: In 1926, Roussy and Levy 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-Levy 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 Levy. 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-Levy family belongs to the CMT-1B subtype and has original morphological and genetic features.
Databáze: OpenAIRE
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