TY  - JOUR
T1  - EArly-onset sensorineural hearing loss and late-onset neurologic complaints caused by a mitochondrial mutation at position 7472
AU  - Ensink RH, Verhoeven K, Marres HM, et al
Y1  - 1998/08/01
N1  - 10.1001/archotol.124.8.886
JO  - Archives of Otolaryngology–Head & Neck Surgery
SP  - 886
EP  - 891
VL  - 124
IS  - 8
N2  - Objectives 
    To detect a mitochondrial mutation responsible for maternally transmitted hearing loss with late-onset neurologic features in a 3-generation Dutch family, and to describe the hearing loss, associated symptoms, and vestibular dysfunction.Patients and Methods 
    All maternally related family members (n=69) were investigated using standard audiometry. In a selected group, vestibulo-ocular examinations and additional neurologic and ophthalmologic examinations were performed. Twenty milliliters of venous blood was taken from all participants for genetic studies.Setting 
    University medical center.Results 
    All maternally related individuals carried an extra C at position 7472 of the mitochondrial genome. Hearing loss was the only symptom or presenting symptom in most family members and most pronounced at higher frequencies. Hearing loss at lower frequencies was demonstrated in individuals 10 years and older. Most patients had vestibular hyperreactivity and were susceptible to motion sickness, suggesting vestibulocerebellar dysfunction. Neurologic complaints were infrequent and presented by older individuals; however, numerous enlarged mitochondria were found in a muscle biopsy specimen of an individual with hearing impairment but without neurologic symptoms.Conclusions 
    Respiratory chain dysfunction should be considered as a possible cause of progressive sensorineural hearing loss. More research into the causes of high-frequency impairment should be considered, especially when sensorineural hearing loss, syndromal or nonsyndromal, is exclusively maternally transmitted. Maternal transmission of hearing impairment can also be valuable in the diagnosis of unclear neurologic syndromes.
SN  - 0886-4470
M3  - doi: 10.1001/archotol.124.8.886
UR  - http://dx.doi.org/10.1001/archotol.124.8.886
ER  -