Refined Mapping of a Gene for Autosomal Dominant Progressive Sensorineural Hearing Loss (DFNA5) to a 2-cM Region, and Exclusion of a Candidate Gene That Is Expressed in the Cochlea

1997 ◽  
Vol 5 (6) ◽  
pp. 397-405 ◽  
Author(s):  
L. Van Laer ◽  
G. Van Camp ◽  
D. van Zuijlen ◽  
E.D. Green ◽  
M. Verstreken ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Candidate Gene ◽  
Autosomal Dominant ◽  
Sensorineural Hearing

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) presenting with sudden sensorineural hearing loss

2005 ◽  
Vol 119 (2) ◽  
pp. 148-151 ◽  
Author(s):  
John S Phillips ◽  
Jacquelyn A King ◽  
Siddharthan Chandran ◽  
Peter R Prinsley ◽  
David Dick
Keyword(s):  
Hearing Loss ◽  
Family History ◽  
Sensorineural Hearing Loss ◽  
World Literature ◽  
Autosomal Dominant ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Cerebrovascular Events ◽  
The World

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an autosomal dominant angiopathy characterized by recurrent cerebrovascular events, migraine and dementia. We describe a case of sensorineural hearing loss as the presenting feature of this condition. We have found no previous reports in the world literature of CADASIL presenting with a sudden sensorineural hearing loss. The significance of questioning a patient with regard to family history is exemplified in this case.

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss

2005 ◽  
Vol 125 (11) ◽  
pp. 1189-1194 ◽  
Author(s):  
Yoshihiro Noguchi ◽  
Takatoshi Yashima ◽  
Akio Hatanaka ◽  
Masamichi Uzawa ◽  
Michio Yasunami ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Autosomal Dominant ◽  
Low Frequency ◽  
Wolfram Syndrome ◽  
Sensorineural Hearing ◽  
Syndrome Type ◽  
Japanese Family

Autosomal-Dominant Progressive Sensorineural Hearing Loss in a Large North American Family

1996 ◽  
Vol 5 (1) ◽  
pp. 105-111 ◽  
Author(s):  
Chris Halpin ◽  
Umang Khetarpal ◽  
Michael McKenna
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
North American ◽  
Autosomal Dominant ◽  
Family Members ◽  
Sensorineural Hearing ◽  
American Family ◽  
Dominant Mutation ◽  
The Family ◽  
Temporal Bones

Forty-nine members of a family with autosomal-dominant progressive sensorineural hearing loss were evaluated by audiologists, otologists, and geneticists. The results presented here show a nonsyndromic, autosomal-dominant mutation causing progressive sensorineural hearing loss beginning at about age 20 and becoming profound by approximately age 45. Because of the unambiguous nature of the hearing loss, the size of the family, and the availability of two previously described temporal bones from family members, a fairly complete description of the nature and impact of this mutation will be presented.

Auditory and vestibular findings in Waardenburg's type II syndrome

1989 ◽  
Vol 103 (12) ◽  
pp. 1130-1133 ◽  
Author(s):  
M. Hildesheimer ◽  
Z. Maayan ◽  
C. Muchnik ◽  
M. Rubinstein ◽  
R. M. Goodman
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Strong Evidence ◽  
Autosomal Dominant ◽  
Sensorineural Hearing ◽  
Type Ii ◽  
Dominant Form ◽  
Autosomal Dominant Form

AbstractA group of 33 patients with the autosomal dominant form of Waardenburg Type II syndrome underwent hearing and vestibular examination. A bilateral, symmetrical, sensorineural hearing loss was found in 51 per cent of the tested subjects. The severity of hearing loss varied from mild to severe. Strong evidence indicated the possible progressive nature of the hearing loss. Concerning the frequency of vestibular findings, the study highlights the frequent divergence between cochlear and vestibular involvement.

Nonsyndromic Autosomal Dominant Progressive Sensorineural Hearing Loss: Audiologic Analysis of a Pedigree Linked to DFNA2

1998 ◽  
Vol 108 (1) ◽  
pp. 74-80 ◽  
Author(s):  
Henricus Kunst ◽  
Henri Marres ◽  
Patrick Huygen ◽  
Robert Ensink ◽  
Guy Van Camp ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Autosomal Dominant ◽  
Sensorineural Hearing
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