CANVAS: A New Genetic Entity in the Otorhinolaryngologist’s Differential Diagnosis
| Autor: | Guadalupe A. Cifuentes, César Álvarez-Marcos, José Luis Llorente, Marta Diñeiro, María Costales, José María Asensi, Juan Cadiñanos, Justo R. Gómez, Rodrigo Casanueva, Fernando López, Rubén Cabanillas, Vanessa Suárez, Andrea Otero |
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| Rok vydání: | 2021 |
| Předmět: |
Male
Cerebellar Ataxia Databases Factual Pentamer Bilateral Vestibulopathy RFC1 Diagnosis Differential 03 medical and health sciences Inheritance (object-oriented programming) 0302 clinical medicine Replication factor C Humans Medicine Genetic Testing Replication Protein C Gene Aged Retrospective Studies 030304 developmental biology Genetics 0303 health sciences DNA Repeat Expansion Cerebellar ataxia business.industry Syndrome Middle Aged medicine.disease Bilateral vestibulopathy Introns Otorhinolaryngology Spain Female Surgery Symptom Assessment medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Otolaryngology–Head and Neck Surgery. 166:74-79 |
| ISSN: | 1097-6817 0194-5998 |
| Popis: | The biallelic inheritance of an expanded intronic pentamer (AAGGG)A retrospective descriptive study from an ataxia database comprising 500 patients.The study was performed at the Otorhinolaryngology Department of a hospital in the north of Spain.Specific genetic testing for CANVAS was performed in 13 patients with clinical suspicion of complete or incomplete syndrome. The clinical diagnosis was supported by quantitative vestibular hypofunction, cerebellar atrophy, and abnormal sensory nerve conduction testing.Nine of 13 (69%) patients met clinical diagnostic criteria for definite CANVAS disease. The first manifestation of the syndrome was lower limb dysesthesia in 8 of 13 patients and gait imbalance in 5 of 13. Eleven of 13 (85%) patients were carriers of the biallelic (AAGGG)A genetic cause of CANVAS has recently been discovered. We propose genetic screening for biallelic expansions of the AAGGG pentamer of |
| Databáze: | OpenAIRE |
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