@misc{10481/92461,
year = {2024},
month = {3},
url = {https://hdl.handle.net/10481/92461},
abstract = {Purpose To describe the clinical, audiological, and psychometric features observed in patients with chronic tinnitus and
rare variants in the ANK2 gene.
Methods We report a case series of 12 patients with chronic tinnitus and heterozygous variants in the ANK2 gene. Tinnitus
phenotyping included audiological (standard and high-frequency audiometry, Auditory Brainstem Responses (ABR) and
Auditory Middle Latency Responses (AMLR)), psychoacoustic and psychometric assessment by a Visual Analog Scale
(VAS) for tinnitus annoyance, the Tinnitus Handicap Inventory (THI), the test on Hypersensitivity to Sound (THS-GÜF),
the Patient Health Questionnaire (PHQ-9), the Hospital Anxiety and Depression Scale (HADS) and the Montreal Cognitive
Assessment (MoCA).
Results All patients reported a persistent, unilateral noise-type tinnitus, mainly described as white noise or narrowband noise.
Seven patients (58%) were considered to have extreme phenotype (THI score > 76), and all patients reported some degree
of hyperacusis (THS-GÜF score > 18 in 75% of patients). Seven patients scored MoCA < 26, regardless of the age reported,
suggesting a mild cognitive disorder. ABR showed no significant differences in latencies and amplitudes between ears with
or without tinnitus. Similarly, the latencies of Pa, Pb waves, and NaPa complex in the AMLR did not differ based on the
presence of tinnitus. However, there were statistical differences in the amplitudes of Pa waves in AMLR, with significantly
greater amplitudes observed in ears with tinnitus.
Conclusion Patients with ANK2 variants and severe tinnitus exhibit an endophenotype featuring hyperacusis, persistent
noise-like tinnitus, high-frequency hearing loss, and decreased amplitudes in AMLR. However, anxiety, depression, and
cognitive symptoms vary among individuals.},
organization = {Open Access funding enabled and organized by CAUL and
its Member Institutions},
organization = {Instituto de Salud
Carlos III (PI22/01838, ISCIII; CD20/00153)},
organization = {Consejería de Salud y
Familias, Junta de Andalucía (Grant RH-0150-2020)},
organization = {University of
Sydney (K7013_B3413 Grant)},
organization = {HORIZON EUROPE Reforming
and enhancing the European Research and Innovation system (Grant
Agreement Number 848261)},
organization = {Asociacion Sindrome de Meniere España
(ASMES), Meniere’s Society, UK},
publisher = {Springer Nature},
keywords = {Tinnitus disorder},
keywords = {Phenotype},
keywords = {Exome sequencing},
title = {Phenotypic spectrum of tinnitus patients bearing rare ANK2 gene variants},
doi = {10.1007/s00405-024-08561-9},
author = {Martín Lagos, Juan and Bernal Robledano, Alberto and Pérez Carpena, Patricia and Lamolda, Mar and Escalera Balsera, Alba and Frejo, Lidia and López Escámez, José Antonio},
}