KEGG   DISEASE: Roussy-Levy syndrome
Entry
H01155                      Disease                                

Name
Roussy-Levy syndrome
Description
Roussy-Levy syndrome (RLS) is a dominantly inherited early-onset syndrome consisting of gait ataxia, pes cavus, areflexia, eventually associated with muscle atrophy, postural tremors, limb ataxia, kyphoscoliosis, and sensory loss. The RLS subtype is not genetically homogeneous. RLS has been described as a phenotypic variant of Charcot-Marie-Tooth disease [DS:H00264] type 1A (CMT-1A) associated with duplications of the PMP22 gene. A mutations in the MPZ gene has been revealed indicating that the original RLS may fall under the CMT-1B subgroup of hereditary demyelinating neuropathies.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01155  Roussy-Levy syndrome
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Disorders of nerve root, plexus or peripheral nerves
   Hereditary neuropathy
    8C20  Hereditary motor or sensory neuropathy
     H01155  Roussy-Levy syndrome
Pathway
hsa04514  Cell adhesion molecules
hsa04146  Peroxisome
Gene
MPZ [HSA:4359] [KO:K06770]
PMP22 [HSA:5827] [KO:K13347]
Other DBs
ICD-11: 8C20.Y
ICD-10: G60.0
MeSH: D002607
OMIM: 180800
Reference
  Authors
Zubair S, Holland NR, Beson B, Parke JT, Prodan CI
  Title
A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.
  Journal
J Neurol 255:1417-8 (2008)
DOI:10.1007/s00415-008-0896-5
Reference
  Authors
Haubrich C, Krings T, Senderek J, Zuchner S, Schroder JM, Noth J, Topper R
  Title
Hypertrophic nerve roots in a case of Roussy-Levy syndrome.
  Journal
Neuroradiology 44:933-7 (2002)
DOI:10.1007/s00234-002-0847-2
Reference
  Authors
Plante-Bordeneuve V, Guiochon-Mantel A, Lacroix C, Lapresle J, Said G
  Title
The Roussy-Levy family: from the original description to the gene.
  Journal
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