Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

Pediatric Research
Luciana RigoliFilippo De Luca

Abstract

Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. WS1 usually results in death before the age of 50 years. The pathogenesis of WS1 is ascribed to mutations of human WFS1 gene on chromosome 4p encoding a transmembrane protein called wolframin, which has physiological functions in membrane trafficking, secretion, processing, and/or regulation of ER calcium homeostasis. Different types of WFS1 mutations have been identified, and some of these have been associated with a dominant, severe type of WS. Mutations of CISD2 gene cause autosomal recessive Wolfram syndrome 2 (WS2) characterized by the absence of diabetes insipidus and psychiatric disorders, and by bleeding upper intestinal ulcer and defective platelet aggregation. Other WFS1-related disorders such as DFNA6/14/38 nonsyndromic low-frequency sensorineural hearing loss and Wolfram syndrome-like disease with autosomal dominant transmission have been described. WS1 is a devastating disease for the patients and their families. Thus, early diagnosis is imperative to enable proper prognostication, prevent complications, and reduce the transmission...Continue Reading

References

Jun 1, 1977·Journal of Medical Genetics·F C Fraser, T Gunn
Dec 1, 1995·Diabetes Care·B T KinsleyR G Swift
Nov 14, 1997·Journal of Medical Genetics·T G Barrett, S E Bundey
May 23, 2002·European Journal of Ophthalmology·M Al-TillK M Ajlouni
Apr 23, 2003·Archives of Otolaryngology--head & Neck Surgery·Marci M LesperanceSuzanne M Leal
Dec 17, 2003·Audiology & Neuro-otology·Ronald J E PenningsCor W R J Cremers
Apr 9, 2004·The Journal of Clinical Endocrinology and Metabolism·R MedlejG Halaby
Feb 8, 2006·Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie·Mandeep S DhallaDaniel S Zuckerbrod
Jun 15, 2007·American Journal of Medical Genetics. Part a·A CanoB Vialettes
Sep 12, 2007·American Journal of Human Genetics·Sami AmrRita Shiang
Jun 12, 2008·Diabetic Medicine : a Journal of the British Diabetic Association·R ValéroB Vialettes
Sep 10, 2008·Trends in Genetics : TIG·Praveen Sethupathy, Francis S Collins
Dec 2, 2008·Nature Reviews. Drug Discovery·Inki KimJohn C Reed
Apr 7, 2009·Journal of Pediatric Endocrinology & Metabolism : JPEM·Mohd Ashraf Ganie, Dilafroze Bhat
May 19, 2009·Acta Neuropathologica·Justin B HilsonJeffrey T Joseph
Nov 17, 2009·World Journal of Gastroenterology : WJG·Rong XuWei De
Feb 18, 2010·The Journal of Clinical Investigation·Sonya G FonsecaFumihiko Urano
Jul 24, 2010·Annals of the New York Academy of Sciences·Yi-Fan ChenTing-Fen Tsai
Aug 27, 2010·Clinical Genetics·L RigoliC Di Bella
Mar 30, 2011·Annals of Neurology·Annabelle ChaussenotVéronique Paquis-Flucklinger
May 24, 2011·Diabetes Care·Julia RohayemUNKNOWN Wolfram Syndrome Diabetes Writing Group
Jan 13, 2012·PloS One·Concetta AloiGiuseppe d'Annunzio
Jun 28, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Ainhi D HaVictor S C Fung
Jul 14, 2012·PloS One·Tamara HersheyUNKNOWN Washington University Wolfram Study Group
Oct 4, 2012·Nature Cell Biology·Katleen Lemaire, Frans Schuit

❮ Previous
Next ❯

Citations

Jul 3, 2019·Pediatric Research·Luciana RigoliFortunato Lombardo
Dec 20, 2019·Chinese Medical Journal·Zhao-Hui CaoXiao-Bo Hu
Jan 23, 2020·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·Jonathan HallIrmingard Neuhann
Jul 8, 2020·Proceedings of the National Academy of Sciences of the United States of America·Lien D NguyenBarbara E Ehrlich
Jul 25, 2019·Journal of Translational Medicine·Maria Teresa PallottaSusanna Esposito
Jul 25, 2019·Nature Biotechnology·Benjamin W ThuronyiDavid R Liu
Jan 11, 2020·Chinese Medical Journal·Zhao-Hui CaoXiao-Bo Hu
Aug 31, 2020·Current Opinion in Physiology·Tom T Fischer, Barbara E Ehrlich
Jan 23, 2021·Genes·Marta García-LópezM Esther Gallardo
Mar 20, 2021·Endocrinología, Diabetes Y Nutrición·Joana Lima FerreiraRosa Maria Príncipe
Apr 4, 2021·Biomolecules·Alessandra Maresca, Valerio Carelli
Mar 12, 2021·Human Molecular Genetics·Eleonora PanfiliMaria T Pallotta
Apr 6, 2021·Balkan Journal of Medical Genetics : BJMG·M Kocova
Jul 28, 2021·Molecular Genetics and Metabolism·Marilin IvaskSulev Kõks

❮ Previous
Next ❯

Methods Mentioned

BETA
cochlear implants

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Related Papers

Journal of Pediatric Endocrinology & Metabolism : JPEM
Mohd Ashraf Ganie, Dilafroze Bhat
Clinical Genetics
Luciana RigoliChiara Di Bella
© 2022 Meta ULC. All rights reserved