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INTRODUCTION

Disorders of lysosomes result from a lack of enzymes or critical proteins involved in lysosomal function. The lysosomes act as the recycle and incinerator systems of our cells. The lack of an enzyme or critical protein can lead to disturbed cellular function resulting from accumulation of substrate (cellular garbage or accumulation of aberrant protein) or from altered cellular metabolism. These usually lead to cell death, but the timing differs depending on the disease. The Batten diseases, neuronal ceroid lipofuscinoses, are perhaps the most extreme of these disorders leading to early cell death and degeneration of the central nervous system (CNS). The fact that the CNS is predominately affected by these disorders probably reflects the lack of regenerative capability in this organ.

BATTEN DISEASES: NEURONAL CEROID LUPOFUSCINOSES

The neuronal ceroid lipofuscinoses (NCL) are a group of recessively inherited degenerative CNS disorders that are accompanied by the accumulation of a lipid protein complex in the neuronal and retinal lysosome. This lipid protein complex stains brown under certain conditions (thus the name lipofuscin; they also autofluoresce) within the neuronal and retinal lysosomes. These disorders are actually multisystemic, and inclusions can be seen in many tissues. NCLs result from deficits in lysosomal proteins; some are enzymes, and others are membrane-associated proteins of unknown function. The diseases manifest at different ages, have variable disease progression, and have different genetic causes. Table 564-1 provides a description of various forms of NCL.

TABLE 564-1NEURONAL CEROID LIPOFUSCINOSIS (NCL) BY AGE OF ONSET AND CLINICAL PRESENTATION

These were first described by Dr. Frederick Batten, a British pediatrician, and although juvenile NCL is named after him (also known as Spielmeyer-Vogt-Sjögern), most physicians name ...

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