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Leukodystrophies represent a large group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord, and often the peripheral nerves. The word leukodystrophy comes from the Greek roots and means: leuko = “white”; dys = “lack of”; and troph = “growth.” Each type of leukodystrophy (see Table L-1) is caused by a specific gene that leads to an abnormal development or destruction of the myelin sheath of the white matter of specific areas of the brain. The neurological manifestations are directly associated to the brain area where the myelin sheath is affected. In general, the symptoms are characterized by a decreased motor function, muscular spasticity, and progressive loss of sight and auditory. When the age of onset is during infancy, it is usually associated with a life expectancy between 2 and 8 years. When it affects adults, they typically live more than a decade after the onset. The diagnosis is made with magnetic resonance imaging showing the degeneration of the white matter. Overall, the general incidence is estimated at 1:7,600 live births. The mode of inheritance is either recessive, dominant, or X-linked for most medical associated conditions. However, spontaneous mutations have been reported.

TABLE L-1Leukodystrophy Classification

Classification

Clinically, there are several specific types of leukodystrophies that are described in length elsewhere in the book (indicated with preceding the name of the syndrome). A short description of each condition is given here to facilitate consultation:

  • Adrenoleukodystrophy (X-Linked Adrenoleukodystrophy, ALD, X-ALD, Siemerling-Creutzfeldt Disease, and Bronze Schilder Disease): X-linked adrenoleukodystrophy (ALD) is the ...

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