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Neurology India, Vol. 54, No. 4, October-December, 2006, pp. 445-446 Letter To Editor Authors' reply Khadilkar SatishV, Menezes KrisheM, Singh RakeshK, Hegde MadhuriR Department of Neurology, Grant Medical College and Sir JJ Group of Hospitals, Mumbai Code Number: ni06155 Sir, We greatly appreciate your interest in our paper. The association of chorea and dysferlinopathy resulting from a 4-kb transcript variant of dysferlin predominantly expressed in the brain tissue, especially putamen, is indeed of significance. However, as mentioned in your letter, our patients are very much different from the patient described by Takahashi et al .[1] Our patients presented very early in life with severe muscular dystrophy, unlike dysferlinopathies which present in the second decade. We have previously presented a cohort of 14 dysferlinopathy patients and none of them presented so early.[2] Secondly, calf hypertrophy seen in both our patients has not been described with dysferlinopathy, which in fact results in calf wasting due to the disease brunt on the gastrocnemius muscle. Thirdly, we had performed dysferlin immunoassay on both the children and they had tested normal for it. We did not include this information as the paper by Takahashi et al had not yet been published and the information on dyferlin staining was not considered relevant at that stage. All these facts put together, our patients do not represent dysferlinopathy but probably harbor a hitherto unknown genetic abnormality. References
Copyright 2006 - Neurology India |
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