Gene Review is an international publication which is seen as a resource for clinicians and medical professionals as it provides clinical data and information for inherited conditions in a standardised journal-style format, covering diagnosis and management. Each chapter in the Gene Review is written by one or more experts on the specific condition or disease and goes through a rigorous editing process before being published online.

The first Gene Review for Alstrom Syndrome was published in 2003, but has been updated in 2019.

The Gene Reviews can be found on the U.S National Library of Medicine:
Paisey RB, Steeds R, Barrett T, et al. Alström Syndrome.
2003 Feb 7 [Updated 2019 Jun 13]. In: Adam MP, Ardinger HH, Pagon
RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of
Washington, Seattle; 1993-2019.

Bookshelf URL: https://www.ncbi.nlm.nih.gov/books/
http://www.genereviews.org/ © 1993-2019 University of Washington

Paisey RB, Steeds R, Barrett T, et al. Alström Syndrome. 2003 Feb 7 [Updated 2019 Jun 13]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.

You can read the Alstrom Syndrome Gene Review which is available from: https://www.ncbi.nlm.nih.gov/books/NBK1267/

The new clinical guidelines – published September 2020 can be found by clicking on the link below:

Consensus clinical management guidelines for Alström syndrome

Overview and case review of patients with Alstrom

• Alström C, Hallgren B, Nilsson L, Asander H. – Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree. Acta Psychiat Neurol Scand. 1959;34 (suppl 129):1-35.
• Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM. – New Alstrom syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med. 2005;165:675-683.
• Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF Alström Syndrome. – Report of 22 cases and literature review. Ophthalmology. 1998 Jul;105(7):1274-80
• Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN. – Alström Syndrome (OMIM 203800): a case report and literature review : Orphanet J Rare Dis. 2007 Dec 21;2(1):49 [Epub ahead of print]
• Maffei P, Boschetti M, Marshall JD, Paisey RB, Beck S, Resmini E, Collin GB, Naggert JK, Milan G, Vettor R, Minuto F, Sicolo N, Barreca A. Characterization of the IGF system in 15 patients with Alström Syndrome. Clin Endocrinol (Oxf). 2007 Feb;66(2):269-75.
• Alstrom Clinical Characteristics and Management 2003 Feb 7 [updated 2019 Jun 13].
• Five novel ALMS1 gene mutations in six patients with Alström syndrome.

How genetic sequencing can transform the way that more people are diagnosed with rare conditions, such as Alstrom.

• A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
  Gatticchi L, Miertus J, Maltese PE, Bressan S, De Antoni L, Podracká L, Piteková L, Rísová V, Mällo M, Jaakson K, Joost K, Colombo L, Bertelli M
• [Analysis of ALMS1 gene variants in seven patients with Alström syndrome].
  Ding Y, Zhang Q, He Y, Zhang L, Li N, Chang G, Chen Y, Wang J, Wu J, Fu L, Wang X

Research papers which concentrate on endocrinology

• Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, Beck S, Boerkoel CF, Sicolo N, Matin M. Nishina PM, Naggert JK. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nat Genet. 2002;31:74-78.
• Lee NC, Marshall JD, Collin GB, Naggert JK, Chien YH, Tsai WY, Hwu WL. Caloric restriction in Alström syndrome prevents hyperinsulinemia. Am J Med Genet A. 2009 Feb 15;149A(4):666-8.
• Paisey RB, Hodge D, Williams K. Body fat distribution, serum glucose, lipid and insulin response to meals in Alström Syndrome. J Hum Nutr Diet. 2008 Jun;21(3):268-74.
• Paisey RB, Paisey RM, Thomson MP, Bower L, Maffei P, Shield JP, Barnett S, Marshall JD. Protection from clinical peripheral sensory neuropathy in Alström Syndrome in contrast to early-onset type 2 diabetes. Diabetes Care. 2009 Mar;32(3):462-4. Epub 2008 Dec 17.
• Paisey RB. New insights and therapies for the metabolic consequences of Alström Syndrome. Curr Opin Lipidol. 2009 Aug;20(4):315-20. Review.
• Paisey RB, Carey CM, Bower L, Marshall J, Taylor P, Maffei P, Mansell P. – Hypertriglyceridaemia in Alström Syndrome: causes and associations in 37 cases. Clin Endocrinol (Oxf). 2004 Feb;60(2):228-31.
• Paisey R B, Williams K, Warren C – High vs low carbohydrate meal effects on serum triglyceride and blood glucose levels in five patients with Alström Syndrome. Diabetic Medicine April 2003 20(supplement 2)104-105.
• Hodge D A,Williams K, Marshall J, Barratt T, Paisey R – Role of insulin treatment for diabetes in Alström Syndrome. Diabetic Medicine, March 2006,23 (supplement 2) 88.
• Hearn T, Spalluto C, Phillips VJ, Renforth GL, Copin N, Hanley NA, Wilson DI – Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes 1: Diabetes. 2005 May54 (5):
• Minton JA, Owen KR, Ricketts CJ, Crabtree N, Shaikh G, Ehtisham S, Porter JR, Carey C, Hodge D, Paisey R, Walker M, Barrett TG. Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alström Syndrome. J Clin Endocrinol Metab. 2006 Aug;91(8):3110-6. Epub 2006 May 23.
• Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S, White C, Connolly V, Taylor JF, Russell-Eggitt I, Bonneau D, Walker M, Wilson DI. – Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet. 2002;31:79-83. 
• Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes.
• Adipose Tissue Malformation Drives Metabolic Dysfunction in Alstrom Syndrome. Diabetes Volume 70, February 2021. This published paper can be downloaded HERE  Further information can be found on the American Diabetes Association website  HERE
• 10 Feb 2021 Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity.
  Dassie F, Favaretto F, Bettini S, Parolin M, Valenti M, Reschke F, Danne T, Vettor R, Milan G, Maffei P

Research related to cardiology

The most recent study in 2024, highlights the need for regular monitoring of patients. This study describes the cardiovascular phenotype of the largest group of adults with AS to-date:

https://doi.org/10.1016/j.ijcard.2024.132212

• Bond J, Flintoff K, Higgins J, Scott S, Bennet C, Parsons J, Mannon J, Jafri H, Rashid Y, Barrow M, Trembath R, Woodruff G, Rossa E, Lynch S, Sheilds J, Newbury-Ecob R, Falconer A, Holland P, Cockburn D, Karbani G, Malik S, Ahmed M, Roberts E, Taylor G, Woods CG. – The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. J Med Genet. 2005 Feb;42(2):e10
• Smith JC, McDonnell B, Retallick C, McEniery C, Carey C, Davies JS, Barrett T, Cockcroft JR, Paisey R. Is arterial stiffening in Alström Syndrome linked to the development of cardiomyopathy? Eur J Clin Invest. 2007 Feb;37(2):99-105.
• Loudon MA, Bellenger NG, Carey CM, Paisey RB. Cardiac magnetic resonance imaging in Alström Syndrome. Orphanet J Rare Dis. 2009 Jun 10;4:14.
• Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy.

• Prospective cardiovascular magnetic resonance imaging in adults with Alström syndrome: silent progression of diffuse interstitial fibrosis

  Shanat Baig, Rory Dowd, Nicola C. Edwards, James Hodson,  Larissa Fabritz, Ravi Vijapurapu, Boyang Liu, Tarekegn Geberhiwot & Richard P. Steeds 

• Association Between ALMS 1 Variants and Early-onset Coronary Artery Disease: A Case-Control Study in Chinese Population.

• Aldahmesh MA, Abu-Safieh L, Khan AO, Al-Hassnan ZN, Shaheen R, Rajab M, Monies D, Meyer BF, Alkuraya FS. Allelic heterogeneity in inbred populations: the Saudi experience with Alström Syndrome as an illustrative example. Am J Med Genet A. 2009 Feb 15;149A(4):662-5. 
• Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome. 
• Whole exome sequencing identified two homozygous ALMS1 mutations in an Iranian family with Alström syndrome. 
• Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child.
• Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome.
• Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.

Clinical Trials in those affected by Alstrom

• Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial.
• Recommendations for the design of small population clinical trials
• IRDIC – Small population clinical trials: challenges in the field of rare diseases

• Role of Alström syndrome 1 in the regulation of blood pressure and renal function.
• Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.
• Western Diet Promotes Renal Injury, Inflammation, and Fibrosis in a Murine Model of Alström Syndrome.
  Kim YC, Ganguly S, Nespoux J, Freeman B, Zhang H, Brenner D, Dhar D, Vallon V

• Morphological and functional findings in Alström syndrome: a study of two families.
• Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
• NB Magazine – Spotlight on Alstrom Syndrome – page 23

• Hill RG, Dwyer K, Tirino J, Whitley M
  Abstract: International journal of pediatric otorhinolaryngology
  Cochlear implantation and mastoid obliteration in a patient with Alström Syndrome.

• Liver Transplantation in Alstrom Syndrome: A Case Report.

• Khoo EY, Risley J, Zaitoun AM, El-Sheikh M, Paisey RB, Acheson AG, Mansell P. Alström Syndrome and cecal volvulus in 2 siblings. Am J Med Sci. 2009 May;337(5):383-5.
• Ciliopathy: Alström Syndrome.