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Article

Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder.

American journal of medical genetics. Part A - 1 Sept 2024

Morrison Kaitlin, Koshiya Hitoshi, Safier Robert, Brown Amanda, May Carol, Vockley Jerry, Ghaloul-Gonzalez Lina

Abstract excerpt

TANGO2 deficiency disorder (TDD) is a neurodegenerative disease characterized by a broad and variable spectrum of clinical manifestations, even among individuals sharing the same pathogenic variants. Here, we report a severely affected individual with TDD presenting with intractable paroxysmal sympathetic hyperactivity (PSH). While progressive brain atrophy has been observed in TDD, PSH has not been reported....

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PMID: 38634641
DOI: 10.1002/ajmg.a.63633
PMCID: PMC11315627

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