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Histidine decarboxylase deficiency causes tourette syndrome: parallel findings in humans and mice

Baldan, Lissandra Castellan ; Williams, Kyle A ; Gallezot, Jean-Dominique ; Pogorelov, Vladimir ; Rapanelli, Maximiliano ; Crowley, Michael ; Anderson, George M ; Loring, Erin ; Gorczyca, Roxanne ; Billingslea, Eileen ; Wasylink, Suzanne ; Panza, Kaitlyn E ; Ercan-Sencicek, A Gulhan ; Krusong, Kuakarun ; Leventhal, Bennett L ; Ohtsu, Hiroshi ; Bloch, Michael H ; Hughes, Zoë A ; Krystal, John H ; Mayes, Linda ; de Araujo, Ivan ; Ding, Yu-Shin ; State, Matthew W ; Pittenger, Christopher

Neuron (Cambridge, Mass.), 2014-01, Vol.81 (1), p.77-90 [Periódico revisado por pares]

United States: Elsevier Limited

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Título:
Histidine decarboxylase deficiency causes tourette syndrome: parallel findings in humans and mice
Autor: Baldan, Lissandra Castellan ; Williams, Kyle A ; Gallezot, Jean-Dominique ; Pogorelov, Vladimir ; Rapanelli, Maximiliano ; Crowley, Michael ; Anderson, George M ; Loring, Erin ; Gorczyca, Roxanne ; Billingslea, Eileen ; Wasylink, Suzanne ; Panza, Kaitlyn E ; Ercan-Sencicek, A Gulhan ; Krusong, Kuakarun ; Leventhal, Bennett L ; Ohtsu, Hiroshi ; Bloch, Michael H ; Hughes, Zoë A ; Krystal, John H ; Mayes, Linda ; de Araujo, Ivan ; Ding, Yu-Shin ; State, Matthew W ; Pittenger, Christopher
Assuntos: Adolescent ; Adult ; Amphetamine ; Amphetamines ; Animals ; Behavior ; Brain - diagnostic imaging ; Brain - enzymology ; Brain - pathology ; Child ; Comorbidity ; Competition ; Dopamine Agonists - therapeutic use ; Dopamine Antagonists - pharmacokinetics ; Exploratory Behavior - physiology ; Female ; Genomes ; Histidine Decarboxylase - deficiency ; Histidine Decarboxylase - genetics ; Humans ; Hypotheses ; Male ; Maze Learning - physiology ; Medical imaging ; Mice ; Mice, Knockout ; Middle Aged ; Mutation ; Mutation - genetics ; Neurons ; Oxazines ; Raclopride - pharmacokinetics ; Radionuclide Imaging ; Rodents ; Stereotyped Behavior - drug effects ; Stereotyped Behavior - physiology ; Time Factors ; Tourette syndrome ; Tourette Syndrome - diagnostic imaging ; Tourette Syndrome - enzymology ; Tourette Syndrome - genetics ; Tourette Syndrome - physiopathology ; Tryptophan - genetics ; Young Adult
É parte de: Neuron (Cambridge, Mass.), 2014-01, Vol.81 (1), p.77-90
Notas: ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
content type line 23
Current address: Department of Psychiatry, UCSF, San Francisco, CA
Current address: Department of Radiology, New York University, New York, NY
Descrição: Tourette syndrome (TS) is characterized by tics, sensorimotor gating deficiencies, and abnormalities of cortico-basal ganglia circuits. A mutation in histidine decarboxylase (Hdc), the key enzyme for the biosynthesis of histamine (HA), has been implicated as a rare genetic cause. Hdc knockout mice exhibited potentiated tic-like stereotypies, recapitulating core phenomenology of TS; these were mitigated by the dopamine (DA) D2 antagonist haloperidol, a proven pharmacotherapy, and by HA infusion into the brain. Prepulse inhibition was impaired in both mice and humans carrying Hdc mutations. HA infusion reduced striatal DA levels; in Hdc knockout mice, striatal DA was increased and the DA-regulated immediate early gene Fos was upregulated. DA D2/D3 receptor binding was altered both in mice and in humans carrying the Hdc mutation. These data confirm histidine decarboxylase deficiency as a rare cause of TS and identify HA-DA interactions in the basal ganglia as an important locus of pathology.
Editor: United States: Elsevier Limited
Idioma: Inglês

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Histidine decarboxylase deficiency causes tourette syndrome: parallel findings in humans and mice

United States: Elsevier Limited

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