Neuronal Ceroid Lipofuscinosis

J. D. Cooper

doi:10.1016/B978-0-12-374105-9.00492-5

Neuronal Ceroid Lipofuscinosis

J. D. Cooper

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

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
Title of host publication	Encyclopedia of Movement Disorders, Three-Volume Set
Publisher	Elsevier
Pages	V2-291-V2-295
ISBN (Electronic)	9780123741059
DOIs	https://doi.org/10.1016/B978-0-12-374105-9.00492-5
State	Published - Jan 1 2010

Keywords

Batten disease
Lysosomal storage disorder
Motor and cognitive decline
Neurodegeneration
Neuronal ceroid lipofuscinosis
Seizures
Visual failure

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10.1016/B978-0-12-374105-9.00492-5

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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.",

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AB - 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.

KW - Batten disease

KW - Lysosomal storage disorder

KW - Motor and cognitive decline

KW - Neurodegeneration

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KW - Seizures

KW - Visual failure

UR - https://www.scopus.com/pages/publications/85184526352

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BT - Encyclopedia of Movement Disorders, Three-Volume Set

PB - Elsevier

ER -

Neuronal Ceroid Lipofuscinosis

Abstract

Keywords

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