Literature DB >> 17491528

Alström syndrome: progressive deafness and blindness.

Louis W Welsh.   

Abstract

Alström syndrome is a very rare, genetically transmitted disorder that affects special sense functions, resulting in progressive visual and auditory impairment. The diagnostic criteria for this disorder are presented, and the differential issues between it and other, similar syndromal forms of sensory and multisystem dysfunction are discussed. A report of 2 siblings so involved is summarized. The disability of other organs is considered, namely, the kidney, the heart, and the metabolic and endocrine systems.

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Year:  2007        PMID: 17491528     DOI: 10.1177/000348940711600411

Source DB:  PubMed          Journal:  Ann Otol Rhinol Laryngol        ISSN: 0003-4894            Impact factor:   1.547


  11 in total

1.  Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.

Authors:  Daniel Jagger; Gayle Collin; John Kelly; Emily Towers; Graham Nevill; Chantal Longo-Guess; Jennifer Benson; Karin Halsey; David Dolan; Jan Marshall; Jürgen Naggert; Andrew Forge
Journal:  Hum Mol Genet       Date:  2010-11-11       Impact factor: 6.150

Review 2.  Alström syndrome: insights into the pathogenesis of metabolic disorders.

Authors:  Dorothée Girard; Nikolai Petrovsky
Journal:  Nat Rev Endocrinol       Date:  2010-12-07       Impact factor: 43.330

3.  Histopathology of the human inner ear in Alström's syndrome.

Authors:  Joseph B Nadol; Jan D Marshall; Roderick T Bronson
Journal:  Audiol Neurootol       Date:  2015-06-24       Impact factor: 1.854

Review 4.  [Hereditary hearing loss: Part 2: Syndromic forms of hearing loss].

Authors:  W F Burke; T Lenarz; H Maier
Journal:  HNO       Date:  2014-10       Impact factor: 1.284

5.  Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.

Authors:  Spencer Lindsey; Carmen Brewer; Olga Stakhovskaya; Hung Jeffrey Kim; Chris Zalewski; Joy Bryant; Kelly A King; Jürgen K Naggert; William A Gahl; Jan D Marshall; Meral Gunay-Aygun
Journal:  Am J Med Genet A       Date:  2017-06-01       Impact factor: 2.578

6.  Alström syndrome: genetics and clinical overview.

Authors:  Jan D Marshall; Pietro Maffei; Gayle B Collin; Jürgen K Naggert
Journal:  Curr Genomics       Date:  2011-05       Impact factor: 2.236

7.  Hypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.

Authors:  E Sarikaya; Cg Ensert; Hc Gulerman
Journal:  Balkan J Med Genet       Date:  2011-12       Impact factor: 0.519

Review 8.  Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?

Authors:  Valentina Lodato; Giovanni Parlapiano; Federica Calì; Massimo Stefano Silvetti; Rachele Adorisio; Michela Armando; May El Hachem; Antonino Romanzo; Carlo Dionisi-Vici; Maria Cristina Digilio; Antonio Novelli; Fabrizio Drago; Massimiliano Raponi; Anwar Baban
Journal:  J Cardiovasc Dev Dis       Date:  2022-01-31

Review 9.  Alstrom syndrome (OMIM 203800): a case report and literature review.

Authors:  Tisha Joy; Henian Cao; Graeme Black; Rayaz Malik; Valentine Charlton-Menys; Robert A Hegele; Paul N Durrington
Journal:  Orphanet J Rare Dis       Date:  2007-12-21       Impact factor: 4.123

10.  Consensus clinical management guidelines for Alström syndrome.

Authors:  Natascia Tahani; Pietro Maffei; Hélène Dollfus; Richard Paisey; Diana Valverde; Gabriella Milan; Joan C Han; Francesca Favaretto; Shyam C Madathil; Charlotte Dawson; Matthew J Armstrong; Adrian T Warfield; Selma Düzenli; Clair A Francomano; Meral Gunay-Aygun; Francesca Dassie; Vincent Marion; Marina Valenti; Kerry Leeson-Beevers; Ann Chivers; Richard Steeds; Timothy Barrett; Tarekegn Geberhiwot
Journal:  Orphanet J Rare Dis       Date:  2020-09-21       Impact factor: 4.123

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