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hearing loss/atrofia

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A 16-year-old girl has presented speaking disturbance since early in life. Difficulty in running was noted at the age of 7. Her mother (46 years old) had moderate facial weakness and mild proximal weakness of the upper and lower limbs. Neurological examination at age 9 revealed bilateral facial

Association of age-related macular degeneration with age-related hearing loss.

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OBJECTIVE To assess the association between age-related macular degeneration and age-related hearing loss in Turkish subjects aged 50 years or older. METHODS Prospective, case-control study within a tertiary university hospital. METHODS Fifty subjects with age-related macular degeneration and 43

Probable autosomal dominant optic atrophy with hearing loss.

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The seventh family manifesting an entity described as automosal dominant optic atrophy with hearing loss is reported here. This disorder shows great inter- and intrafamilial variation in the onset time and the degree of loss of both vision and hearing. Unlike autosomal dominant optic atrophy without
In 1980 Young and Harper described a family with an unusual form of distal spinal muscular atrophy associated with vocal cord paralysis. We report a family with three similarly affected subjects. Progressive sensorineural hearing loss was an additional feature in our patients. Electrophysiological

Atrophy of outer hair cell stereocilia and hearing loss in hydropic cochleae.

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We have earlier described selective atrophy of short and middle stereocilia on outer hair cells of the three upper cochlear turns in hydropic cochleae of guinea pigs. The present study describes sequential early stages of stereocilia degeneration leading to this specific atrophy. Comparison of the

A family with optic atrophy and congenital hearing loss.

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A 37-year-old woman had optic atrophy in both eyes and low-tone hearing disturbance of both ears noted after 34 years of age. Her visual acuity was 0.5 in the right eye and 0.6 in the left. The visual fields of both eyes showed slight progressive concentric narrowing. Hearing loss was gradually

Hearing impairment in the P23H-1 retinal degeneration rat model.

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The transgenic P23H line 1 (P23H-1) rat expresses a variant of rhodopsin with a mutation that leads to loss of visual function. This rat strain is an experimental model usually employed to study photoreceptor degeneration. Although the mutated protein should not interfere with other sensory

Bcl11b heterozygosity leads to age-related hearing loss and degeneration of outer hair cells of the mouse cochlea.

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BCL11B/CTIP2 zinc-finger transcription factor is expressed in various types of cells in many different tissues. This study showed that BCL11B is expressed in the nucleus of the outer hair cells of the mouse cochlea, degeneration of which is known to cause deafness and presbycusis or age-related
Fascin2 (FSCN2) is an actin cross-linking protein that is mainly localized in retinas and in the stereocilia of hair cells. Earlier studies showed that a deletion mutation in human FASCIN2 (FSCN2) gene could cause autosomal dominant retinitis pigmentosa. Recent studies have indicated that a missense
Presbycusis or age-related hearing loss (ARHL) is the most common sensory deficit in the human population. A substantial component of the etiology stems from pathological changes in sensory and non-sensory cells in the cochlea. Using a non-obese diabetic (NOD) mouse model, we have characterized

Progressive hearing loss and degeneration of hair cell stereocilia in taperin gene knockout mice.

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The TPRN gene encodes taperin, which is prominently present at the taper region of hair cell stereocilia. Mutations in TPRN have been reported to cause autosomal recessive nonsyndromic deafness 79(DFNB 79). To investigate the role of taperin in pathogenesis of hearing loss, we generated TPRN

Evidence for hair cell degeneration as the primary lesion in hearing loss of the elderly.

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All patients in a geriatric unit showed a hearing loss with a mean value of approximately 60 dB HL. Auditory brain stem evoked responses had normal amplitudes but, in most cases, waves I and II were absent. Extratympanic electrocochleograms produced well-marked action potentials with evidence of a

Optic atrophy, hearing loss, and peripheral neuropathy.

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Here we report on two families with a previously apparently undescribed, autosomal dominant disorder resulting in optic atrophy and subsequent development of hearing loss and peripheral neuropathy. This disorder differs from previous syndromes resulting in this triad of effects both in the severity

The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.

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OBJECTIVE To describe the clinical and genetic characteristics of a Chinese family affected with optic atrophy 1 (OPA1). METHODS Linkage analysis and DNA sequencing as well as PCR/restriction fragment length polymorphism (RFLP) analysis were performed to identify the disease-causing
Degeneration of the spiral ganglion neurons (SGNs) of the auditory nerve occurs with age and in response to acoustic injury. Histopathological observations suggest that the neural degeneration often begins with an excitotoxic process affecting the afferent dendrites under the inner hair cells
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