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|LETTER TO EDITOR
|Year : 2006 | Volume
| Issue : 4 | Page : 445-446
Satish V Khadilkar1, Krishe M Menezes1, Rakesh K Singh2, Madhuri R Hegde3
1 Department of Neurology, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, India
2 Consultant Neurologist, Thane, India
3 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Satish V Khadilkar
Department of Neurology, Grant Medical College and Sir JJ Group of Hospitals, Mumbai
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Khadilkar SV, Menezes KM, Singh RK, Hegde MR. Authors' reply. Neurol India 2006;54:445-6
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 . 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. 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|| |
|1.||Takahashi T, Aoki M, Imai T, Yoshioka M, Konno H, Higano S, et al . A case of dysferlinopathy presenting choreic movements. Mov Disord 2006;21:1513-5. |
|2.||Khadilkar SV, Singh RK, Kulkarni K, Chitale AR. A Study of Clinical and laboratory features of 14 Indian patients With dysferlinopathy. J Clin Neuromusc Dis 2004;6:1-8. |