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עמוד בית
Wed, 16.10.24

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December 2005
V. Yehezkely-Schildkraut, M. Kutai, Y. Hugeirat, C. Levin, S. Alon Shalev, G. Mazor, A. Koren.

Background: The cause of cerebral palsy remains unknown in most cases. Factor V Leiden mutation, a common cause of hereditary thrombophilia, has been associated with CP[1].

Objectives: To analyze the prevalence of factor V Leiden (G1691A), prothrombin (G20210A), and methylenetetrahydrofolate reductase (C677T) mutations in children with CP.

Methods: Sixty-one children with CP were studied for the presence of the three gene mutations associated with thrombophilia.

Results: We found that 41% of the children with CP and 33% of the controls carry one or more of the studied mutations (P = 0.348). The prevalence of the factor V mutation was 27.9% in CP and 16.4% in controls (P = 0.127). The frequency of the other two genetic factors was even less significant. The FVL[2] mutation was found in 35% of the Arab CP patients (15/42) and in 22% of the controls from the same population (9/40) (P = 0.067).

Conclusions: Each of the genetic factors studied was shown to be related to CP. Despite the high frequency of FVL among the studied patients, we were unable to prove a significant correlation between FVL and CP, mainly because this factor is frequent in the Arab control group. In this population a trend toward significance can be seen (P = 0.067). Larger studies are needed to validate the significance of these results.






[1] CP = cerebral palsy



[2] FVL = factor V Leiden


February 2003
Y. Nevo, F. Muntoni, C. Sewry, C. Legum, M. Kutai, S. Harel and V. Dubowitz

Background: The prediction that Duchenne muscular dystrophy patients have out-of-frame deletions and Becker muscular dystrophy patients have in-frame deletions of the dystrophin gene holds well in the vast majority of cases. Large in-frame deletions involving the rod domain only have usually been associated with mild (BMD[1]) phenotype.

Objectives: To describe unusual cases with large in-frame deletions of the rod-shaped domain of the dystrophin gene associated with severe (Duchenne) clinical phenotype

Methods: Screening for dystrophin gene deletion was performed on genomic DNA by using multiplex polymerase chain reaction. Needle muscle biopsies from the quadriceps were obtained using a BergstrÖm needle. The biopsies were stained with histologic and histochemical techniques as well as monoclonal antibodies to dystrophin 1, 2 and 3.

Results: In three children with large in-frame deletions of the rod domain (exons 10–44, 13–40 and 3–41), early-onset weakness and a disease course suggested the DMD[2] phenotype.

Conclusions: This observation emphasizes the uncertainty in predicting the Becker phenotype in a young patient based on laboratory evaluation, and that the clinical picture should always be considered.






[1] BMD = Becker muscular dystrophy



[2] DMD = Duchenne muscular dystrophy


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