Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration

Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration Publisher Pubmed

Saeedi Y¹ ; Kazemi F¹ ; Habibi SAH¹ ; Tafakhori A² ; Chitsaz A³ ; Fasano A^{4, 5} ; Lang AE^{4, 5} ; Rohani M¹

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1. Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran
2. Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran
3. Department of Neurology, School of Medicine, Isfahan Neuroscience Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
4. Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology, University of Toronto, Toronto, Ontario, Canada
5. Krembil Brain Institute, Toronto, Ontario, Canada

Source: Pediatric Neurology Published:2020

Abstract

Background: Tongue protrusion dystonia is an uncommon focal dystonia involving the lingual muscles. Causes of tongue protrusion dystonia include tardive dystonia, posthypoxic dystonia, neuroacanthocytosis, pantothenate kinase-associated neurodegeneration, and Lesch-Nyhan syndrome. Method: We summarize three children with pantothenate kinase-associated neurodegeneration and tongue protrusion dystonia. All three patients underwent careful neurological examination, brain magnetic resonance imaging, and genetic testing. Results: Tongue protrusion dystonia was a prominent and disabling symptom in all three patients. Brain magnetic resonance imaging revealed a typical eye of the tiger sign in all patients. Two patients had the same genetic mutation (c.1168 A>T mutation, p.I390F). Conclusions: Tongue protrusion dystonia may be a clue to the underlying etiology of dystonia, including hereditary forms of dystonia. Among them, pantothenate kinase-associated neurodegeneration is an important cause, especially in children. © 2019 Elsevier Inc.

2. Childhood Laryngeal Dystonia Following Bilateral Globus Pallidus Abnormality: A Case Study and Review of Literature, Iranian Journal of Otorhinolaryngology (2017)

4. The Clinical and Genetic Spectrum of Autosomal-Recessive Tor1a-Related Disorders, Brain (2023)

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Style	Citing Format
MLA	Saeedi Y, et al.. "Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration." Pediatric Neurology, vol. 103, no. , 2020, pp. 76-78.
APA	Saeedi Y, Kazemi F, Habibi SAH, Tafakhori A, Chitsaz A, Fasano A, Lang AE, Rohani M (2020). Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration. Pediatric Neurology, 103(), 76-78.
Chicago	Saeedi Y, Kazemi F, Habibi SAH, Tafakhori A, Chitsaz A, Fasano A, Lang AE, Rohani M. "Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration." Pediatric Neurology 103, no. (2020): 76-78.
Harvard	Saeedi Y et al. (2020) 'Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration', Pediatric Neurology, 103(), pp. 76-78.
Vancouver	Saeedi Y, Kazemi F, Habibi SAH, Tafakhori A, Chitsaz A, Fasano A, et al.. Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration. Pediatric Neurology. 2020;103():76-78.
BibTex	@article{ author = {Saeedi Y and Kazemi F and Habibi SAH and Tafakhori A and Chitsaz A and Fasano A and Lang AE and Rohani M}, title = {Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration}, journal = {Pediatric Neurology}, volume = {103}, number = {}, pages = {76-78}, year = {2020} }
RIS	TY - JOUR AU - Saeedi Y AU - Kazemi F AU - Habibi SAH AU - Tafakhori A AU - Chitsaz A AU - Fasano A AU - Lang AE AU - Rohani M TI - Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration JO - Pediatric Neurology VL - 103 IS - SP - 76 EP - 78 PY - 2020 ER -

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