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Adult Neuronal Ceroid Lipofuscinosis

Known as: Disease, Kufs', CLN4As, Kufs Disease Autosomal Recessive 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1972-2017
012319722017

Related topics

Related topics

15 relations
Abnormality of extrapyramidal motor functionAuditory and visual hallucinationsAutosomal recessive inheritanceBehavioral change
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Neuronal Ceroid-Lipofuscinoses

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Adult Neuronal Ceroid Lipofuscinosis
Seizures
Dementia
Autosomal recessive inheritance
Cerebral atrophy
Myoclonus

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
OBJECTIVE To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid… (More)
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2016
2016
Neuronal ceroid lipofuscinosis in an adult American Staffordshire Terrier.
A female, 5-year-old American Staffordshire Terrier with severe progressive neurological deficits, particularly in terms of… (More)
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2013
2013
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Kufs disease, an adult-onset neuronal ceroid lipofuscinosis, is challenging to diagnose and genetically heterogeneous. Mutations… (More)
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2012
2012
Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families
BACKGROUND The Neuronal Ceroid Lipofuscinoses (NCL) comprise at least nine progressive neurodegenerative genetic disorders. Kufs… (More)
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2011
2011
A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.
A recessive, adult-onset neuronal ceroid-lipofuscinosis (NCL) occurs in Tibetan terriers. A genome-wide association study… (More)
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2011
2011
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of… (More)
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2004
2004
The problematic issue of Kufs disease diagnosis as performed on rectal biopsies: a case report.
Kufs disease, the late-onset form of a group of neurodegenerative disorders, known as the neuronal ceroid-lipofuscinoses, is… (More)
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2003
2003
Neuronal ceroid-lipofuscinosis in a Labrador Retriever.
An 8-year-old Labrador Retriever with an 11-month history of progressive partial seizures and necropsy examination findings… (More)
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Review
1989
Review
1989
Adult neuronal ceroid-lipofuscinosis.
Among the different clinical forms of neuronal ceroid-lipofuscinosis (NCL), the adult type is the least frequent, most sporadic… (More)
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1988
1988
Morphological diagnosis and misdiagnosis in Batten-Kufs disease.
Skin biopsy is a reliable method for diagnosis of Batten disease; it is probably not reliable in Kufs disease. Eccrine secretory… (More)
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