Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease.

doi:10.1002/ana.24191

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Article

Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease.

Annals of neurology - 1 Jul 2014

Göttle Martin, Prudente Cecilia N, Fu Rong, Sutcliffe Diane, Pang Hong, Cooper Deborah, Veledar Emir, Glass Jonathan D, Gearing Marla, Visser Jasper E, Jinnah H A

Abstract excerpt

OBJECTIVE: Lesch-Nyhan disease (LND) is caused by congenital deficiency of the purine recycling enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt). Affected patients have a peculiar neurobehavioral syndrome linked with reductions of dopamine in the basal ganglia. The purpose of the current studies was to determine the anatomical basis for the reduced dopamine in human brain specimens collected at...

Topics

Adult
Aged
Aged, 80 and over
Animals
Cell Line, Tumor
Child
Child, Preschool
Corpus Striatum
Disease Models, Animal
Dopamine
Dopaminergic Neurons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Hypoxanthine Phosphoribosyltransferase

Lesch-Nyhan Syndrome

Male

Mesencephalon

Mice

Mice, Inbred C57BL

Source

Open in PubMed Open full text

Identifiers

PMID: 24891139
DOI: 10.1002/ana.24191
PMCID: PMC4827147

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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