TANGO2 related disease: neurological features
Evidence-based neurology checklist on tango2 related disease: neurological features: Genetics It is caused by mutations in the TANGO2 gene on chromosome 22 The transmission is autosomal recessive It manifests with metabolic crises Crisis triggers Neurodevelopmental features Seizures: types Other…
Genetics
- It is caused by mutations in the TANGO2 gene on chromosome 22
- The transmission is autosomal recessive
- It manifests with metabolic crises
Crisis triggers
Neurodevelopmental features
Seizures: types
Other neurological features
Limb girdle myopathy
Differential diagnosis
Acronym
References
- Milev MP, Saint-Dic D, Zardoui K, et al. The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria. J Inherit Metab Dis 2021; 44:426-437.
- Dines JN, Golden-Grant K, LaCroix A, et al. TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. Genet Med 2019; 21:601-607.
- Hoebeke C, Cano A, De Lonlay P, Chabrol B. Clinical phenotype associated with TANGO2 gene mutation. Arch Pediatr 2021; 28:80-86.
- Bérat CM, Montealegre S, Wiedemann A, et al. Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect. J Inherit Metab Dis 2021; 44:415-425.
- Frey J, Burns MR, Chiu SY, et al. TANGO2 mutation: a genetic cause of multifocal combined dystonia. Mov Disord Clin Pract 2022; 9:380-382.
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