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

3 Scopus citations

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
Publisher	Elsevier Inc.
Pages	291-295
Number of pages	5
ISBN (Electronic)	9780123741059
ISBN (Print)	9780123741011
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

Cite this

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title = "Neuronal Ceroid Lipofuscinosis",

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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N2 - 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.

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

KW - Neuronal ceroid lipofuscinosis

KW - Seizures

KW - Visual failure

UR - https://www.scopus.com/pages/publications/78649741254

U2 - 10.1016/B978-0-12-374105-9.00492-5

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

M3 - Chapter

AN - SCOPUS:78649741254

SN - 9780123741011

SP - 291

EP - 295

BT - Encyclopedia of Movement Disorders

PB - Elsevier Inc.

ER -

Neuronal Ceroid Lipofuscinosis

Abstract

Keywords

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