Abstract
The neuronal ceroid lipofuscinoses (NCLs or Batten disease) are a group of fatal lysosomal storage disorders. At least ten forms exist, each caused by a mutation in a single gene. These disorders have widely different ages of onset, but share blindness, seizures, motor and cognitive decline, and premature death.
Original language | English |
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Title of host publication | Encyclopedia of Movement Disorders |
Publisher | Elsevier Inc. |
Pages | 291-295 |
Number of pages | 5 |
ISBN (Electronic) | 9780123741059 |
ISBN (Print) | 9780123741011 |
DOIs | |
State | Published - Jan 1 2010 |
Keywords
- Batten disease
- Lysosomal storage disorder
- Motor and cognitive decline
- Neurodegeneration
- Neuronal ceroid lipofuscinosis
- Seizures
- Visual failure