title: Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients.
abstract: METHODS
  Retrospective study of 175 patients with hereditary motor and sensory neuropathy (HMSN), i.e., Charcot-Marie-Tooth (CMT) disease.
  
  
  OBJECTIVE
  To investigate the frequency, age of onset, character, familial, and genotypical incidence of spinal deformities among HMSN patients.
  
  
  BACKGROUND
  Prior studies addressing HMSN discuss the associated spinal deformities. However, these data vary significantly while inconsistently including genotypes within the classification framework.
  
  
  METHODS
  Plain-film radiographic spine studies of 175 HMSN patients were performed to determine the incidence, character, and severity of spinal deformity. The degree of the spinal deformity was evaluated measuring Cobb's angle of the main curve. The results of the entire cohort were initially assessed before being classified by genotype.
  
  
  RESULTS
  The incidence of spinal deformity for the entire group was 26%. Of these, 58% demonstrated scoliosis, 31% had kyphoscoliosis, and 11% had thoracic hyperkyphosis; 73% of patients with spinal deformity were classified as HMSN Type I with confirmed duplication of the PMP 22 (peripheral myelin protein) gene on chromosome 17. The incidence of spinal deformity by genotype was: duplication of the PMP 22 gene: 29% (25 of 87); deletion of the PMP 22 gene: 0% (0 of 15); Cx32 (connexin 32) gene mutation: 24% (8 of 34); and MPZ (myelin protein zero) gene mutation: 100% (6 of 6). Familial incidence of spinal deformity was found in "MPZ gene mutation" and "duplication of PMP 22 gene" subgroups.
  
  
  CONCLUSIONS
  This study demonstrates a 26% incidence of spinal deformity among HMSN patients. Spinal deformity was most frequently observed in patients with the MPZ gene mutation, where the most common familial incidence was also found.
authors: Departments of Rehabilitation, University Hospital Motol, 2nd Medical Faculty, Charles University, Prague, Czech Republic.
authors: Ondrej
authors: O
authors: Horacek
authors: Radim
authors: R
authors: Mazanec
authors: Craig E
authors: CE
authors: Morris
authors: Alena
authors: A
authors: Kobesova
mesh_terms: D000328:Adult; D017668:Age of Onset; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D015331:Cohort Studies; D015897:Comorbidity; D004252:DNA Mutational Analysis; D005260:Female; D020440:Gene Duplication; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D015417:Hereditary Sensory and Motor Neuropathy / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D015994:Incidence; D040582:Inheritance Patterns / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D018993:Myelin P0 Protein / Q000235:genetics; D009185:Myelin Proteins / Q000235:genetics; D011859:Radiography; D012189:Retrospective Studies; D013121:Spinal Curvatures / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics*; D013131:Spine / Q000000981:diagnostic imaging / Q000473:pathology*
chemical_list: D005819:Genetic Markers; D018993:Myelin P0 Protein; D009185:Myelin Proteins; C073687:PMP22 protein, human