Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Auer-Grumbach, M; Strasser-Fuchs, S; Wagner, K; Körner, E; Fazekas, F.
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):72-75
Doi: 10.1016/S0022-510X(97)00218-9
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- Führende Autor*innen der Med Uni Graz
- Auer-Grumbach Michaela
- Fazekas Franz
- Co-Autor*innen der Med Uni Graz
- Fuchs Siegrid
- Koerner Eva
- Wagner Klaus
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- 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.
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- Action Potentials -
- Charcot-Marie-Tooth Disease - genetics
- Chromosomes, Human, Pair 17 - genetics
- Electromyography - genetics
- Female - genetics
- Foot - pathology
- Hand - pathology
- Humans - pathology
- Male - pathology
- Multigene Family - pathology
- Neural Conduction - pathology
- Neurologic Examination - pathology
- Pedigree - pathology
- Phenotype - pathology
- Find related publications in this database (Keywords)
- Roussy-Levy Syndrome
- Charcot-Marie-Tooth Syndrome
- Chromosome 17