Megalencephalic leukoencephalopathy with subcortical cysts

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Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of hereditary CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies.

Genetics[edit | edit source]

It is associated with MLC1.[1][2]

History[edit | edit source]

A series of cases with megalencephalic leukodystrophy were described by the Indian neurologist Bhim Sen Singhal (1933-)in 1991.[3][4][5] However, it is sometimes referred to as Van der Knaap disease after the Dutch neurologist Marjo van der Knaap who described another series of cases with clinical and radiological features in 1995.[6][7][8]

References[edit | edit source]

  1. "Megalencephalic leukoencephalopathy with subcortical cysts - Genetics Home Reference". Retrieved 2009-03-11.
  2. Singhal BS, Gursahani RD, Biniwale AA, Udani VP. Tokyo, Japan: In Proceedings of the 8th Asian and Oceanian Congress of Neurology; 1991. Megalencephalic leukodystrophy in India; p. 72.

External links[edit | edit source]

Classification
External resources




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Contributors: Prab R. Tumpati, MD