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Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.
J Neurol Sci. 1998 Jan 21; 154(1):72-5.JN

Abstract

The Roussy-Lévy syndrome (MIM #180800) was described in 1926 as a disorder presenting with pes cavus and tendon areflexia, distal limb weakness, tremor in the upper limbs, gait ataxia and distal sensory loss. We report a family with affected members in four generations, showing these clinical signs of Roussy-Lévy syndrome and a partial duplication at chromosome 17p11.2. This genetic defect is commonly found in patients with the hypertrophic form of the Charcot-Marie-Tooth syndrome. Our finding provides evidence against the Roussy-Lévy syndrome as a distinct entity but suggests a close relation with the Charcot-Marie-Tooth syndrome. What causes the additional features of gait ataxia and essential tremor needs further clarification.

Authors+Show Affiliations

Department of Neurology, Karl-Franzens-University Graz, Austria.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9543325

Citation

Auer-Grumbach, M, et al. "Roussy-Lévy Syndrome Is a Phenotypic Variant of Charcot-Marie-Tooth Syndrome IA Associated With a Duplication On Chromosome 17p11.2." Journal of the Neurological Sciences, vol. 154, no. 1, 1998, pp. 72-5.
Auer-Grumbach M, Strasser-Fuchs S, Wagner K, et al. Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. J Neurol Sci. 1998;154(1):72-5.
Auer-Grumbach, M., Strasser-Fuchs, S., Wagner, K., Körner, E., & Fazekas, F. (1998). Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. Journal of the Neurological Sciences, 154(1), 72-5.
Auer-Grumbach M, et al. Roussy-Lévy Syndrome Is a Phenotypic Variant of Charcot-Marie-Tooth Syndrome IA Associated With a Duplication On Chromosome 17p11.2. J Neurol Sci. 1998 Jan 21;154(1):72-5. PubMed PMID: 9543325.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. AU - Auer-Grumbach,M, AU - Strasser-Fuchs,S, AU - Wagner,K, AU - Körner,E, AU - Fazekas,F, PY - 1998/5/23/pubmed PY - 1998/5/23/medline PY - 1998/5/23/entrez SP - 72 EP - 5 JF - Journal of the neurological sciences JO - J. Neurol. Sci. VL - 154 IS - 1 N2 - The Roussy-Lévy syndrome (MIM #180800) was described in 1926 as a disorder presenting with pes cavus and tendon areflexia, distal limb weakness, tremor in the upper limbs, gait ataxia and distal sensory loss. We report a family with affected members in four generations, showing these clinical signs of Roussy-Lévy syndrome and a partial duplication at chromosome 17p11.2. This genetic defect is commonly found in patients with the hypertrophic form of the Charcot-Marie-Tooth syndrome. Our finding provides evidence against the Roussy-Lévy syndrome as a distinct entity but suggests a close relation with the Charcot-Marie-Tooth syndrome. What causes the additional features of gait ataxia and essential tremor needs further clarification. SN - 0022-510X UR - https://www.unboundmedicine.com/medline/citation/9543325/Roussy_Lévy_syndrome_is_a_phenotypic_variant_of_Charcot_Marie_Tooth_syndrome_IA_associated_with_a_duplication_on_chromosome_17p11_2_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022510X97002189 DB - PRIME DP - Unbound Medicine ER -