Results 81 to 90 of about 9,987 (182)

Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family

, 2003
Purpose: To describe the clinical features, mode of inheritance, and linkage analysis of ten affected members of a three-generation family with progressive optic atrophy and progressive hearing loss. Materials and methods: The proband, a 10-year-old boy,
Wollnik, Bernd, Bayramoglu, Ismet, Bagci, Hüseyin, Çetin, G. Ozan, Sahiner, Türker, Özden, Serap, Düzcan, Füsun, Yüksel Apak, Memnune   +7 more
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PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders

Muscles
An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive ...
Paulo Sgobbi, Igor Braga Farias, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, Adriel Rêgo Barbosa, Pedro Henrique Almeida Fraiman, Vinícius Lopes Braga, Roberta Ismael Lacerda Machado, Sophia Luiz Calegaretti, Isabela Danziato Fernandes, Roberta Correa Ribeiro, Marco Antonio Orsini Neves, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira   +18 more
doaj   +1 more source

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

Scientific Reports, 2017
KIF1A is a brain-specific anterograde motor protein that transports cargoes towards the plus-ends of microtubules. Many variants of the KIF1A gene have been associated with neurodegenerative diseases and developmental delay. Homozygous mutations of KIF1A
Chong Kun Cheon, So-Hee Lim, Yoo-Mi Kim, Doyoun Kim, Na-Yoon Lee, Tae-Sung Yoon, Nam-Soon Kim, Eunjoon Kim, Jae-Ran Lee   +8 more
doaj   +1 more source

Walsh & Hoyt: Autosomal-Dominant Optic Atrophy, Deafness and Ophthalmoplegia

, 2005
Treft et al. described a syndrome affecting 23 members of five generations of a Utahfamily characterized by optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. The visual loss was first noted between the ages of 6 and 19 years, with
Nancy J. Newman, MD
core  

OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background

BMC Medical Genetics, 2009
Background Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are the most frequent forms of hereditary optic neuropathies.
Amati-Bonneau Patrizia, Thoraval Didier, Murail Pascal, Chevrollier Arnaud, Rocher Christophe, Ferré Marc, Pierron Denis, Reynier Pascal, Letellier Thierry   +8 more
doaj   +1 more source

Autosomal Dominant Optic Atrophy: A Sheep in Wolf\u27s Clothing?

, 1996
We report the first known pedigree in which autosomal dominant optic atrophy (ADOA) and a protan defect have presented simultaneously. An asymptomatic college coed presented in referral with decreased vision and visual fields suggestive of chiasmal ...
Steven E. Katz, MD; M. Lubow, MD; M. Earley, OD
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Does acute loss of vision in Autosomal Dominant Optic Atrophy occur early in childhood?

, 2010
Purpose:In contrast to Autosomal dominant optic atrophy (ADOA), acute loss of vision is normally observed in Leber's hereditary optic neuropathy (LHON) patients.
Kearns, Lisa S., Kearns, LS, Forrest, Michael, Churchill, Amanda J., Cohn, AC, Cohn, Amy C., Mackey, David A., Mackey, DA, Forrest, M, Churchill, AJ   +9 more
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Temporal retinal nerve fiber loss in patients with spinocerebellar ataxia type 1.

PLoS ONE, 2011
BackgroundAutosomal dominant spinocerebellar ataxia type 1 is an adult onset progressive disorder with well characterized neurodegeneration in the cerebellum and brainstem.
Sarah Stricker, Timm Oberwahrenbrock, Hanna Zimmermann, Jan Schroeter, Matthias Endres, Alexander U Brandt, Friedemann Paul   +6 more
doaj   +1 more source

Peripapillary RNFL thickness values provided by RNFL-N Axonal Analytics and Statistical Differences in Autosomal-Dominant Optic Atrophy (ADOA) and Control Subjects.

, 2018
Peripapillary RNFL thickness values provided by RNFL-N Axonal Analytics and Statistical Differences in Autosomal-Dominant Optic Atrophy (ADOA) and Control Subjects.
Roberto Pietro Sorge (3897154), Andrea Cusumano (424006), Barbara Garavaglia (3448151), Elena Ciuffoletti (3897157), Eleonora Lamantea (3897148), Francesco Brancati (294036), Massimo Cesareo (3897160), Carlo Nucci (442290), Jacopo Sebastiani (3897145), Federico Ricci (423997), Alessio Martucci (3897151)   +10 more
core   +1 more source

Mean ± standard deviation retinal sensitivity values of the 64 test-points measured by the MP1 “posterior pole” program in Autosomal-Dominant Optic Atrophy (ADOA) and Control Subjects.

, 2018
Mean ± standard deviation retinal sensitivity values of the 64 test-points measured by the MP1 “posterior pole” program in Autosomal-Dominant Optic Atrophy (ADOA) and Control Subjects.
Roberto Pietro Sorge (3897154), Andrea Cusumano (424006), Barbara Garavaglia (3448151), Elena Ciuffoletti (3897157), Eleonora Lamantea (3897148), Francesco Brancati (294036), Massimo Cesareo (3897160), Carlo Nucci (442290), Jacopo Sebastiani (3897145), Federico Ricci (423997), Alessio Martucci (3897151)   +10 more
core   +1 more source