I. , H. Duran-i-reynals, G. Planta, L. Via-de, and . Hospitalet, U-730, Hospital Duran i Reynals, 3ª Planta, Gran Via de L'Hospitalet, 199, E-08907-L'Hospitalet de Llobregat, Spain. 4 Centro de Investigación en Red de Enfermedades Raras (CIBERER) Feixa Llarga, sn. 08907 L'Hospitalet de Llobregat PL-90-419, Poland. 9 Alström Syndrome UK, 49 Southfield Avenue

E. Union, on an action in the field of rare diseases, Official J European Union, vol.151, pp.7-10, 2009.

T. Barrett, S. Bundey, and A. Macleod, Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome, The Lancet, vol.346, issue.8988, pp.1458-1463, 1995.
DOI : 10.1016/S0140-6736(95)92473-6

T. Barrett and S. Bundey, Wolfram (DIDMOAD) syndrome., Journal of Medical Genetics, vol.34, issue.10, pp.838-841, 1997.
DOI : 10.1136/jmg.34.10.838

URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051091

J. Hilson, S. Merchant, J. Adams, and J. Joseph, Wolfram syndrome: a clinicopathologic correlation, Acta Neuropathologica, vol.17, issue.8336, pp.415-428, 2009.
DOI : 10.1007/s00401-009-0546-8

T. Rando, J. Horton, and R. Layzer, Wolfram syndrome: Evidence of a diffuse neurodegenerative disease by magnetic resonance imaging, Neurology, vol.42, issue.6, pp.1220-1224, 1992.
DOI : 10.1212/WNL.42.6.1220

M. Polymeropoulos, R. Swift, and M. Swift, Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4, Nature Genetics, vol.1, issue.1, pp.95-97, 1994.
DOI : 10.1016/0165-1781(93)90110-3

H. Inoue, Y. Tanizawa, J. Wasson, P. Behn, K. Kalidas et al., A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome), Nature Genetics, vol.20, issue.2, pp.143-148, 1998.
DOI : 10.1038/2441

T. Strom, K. Hortnagel, S. Hofmann, F. Gekeler, C. Scharfe et al., Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein, Human Molecular Genetics, vol.7, issue.13, pp.2021-2028, 1998.
DOI : 10.1093/hmg/7.13.2021

L. Tranebjaerg, T. Barrett, and N. Rendtorff, WFS1-related disorders, Gene reviews at genetests: medical genetics information resource [database online], Seattle: University, vol.2009, pp.1997-2008

C. Alström, B. Hallgren, L. Nilsson, and A. Åsander, Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from Laurence-Moon- Biedl syndrome a clinical endocrinological and genetic examination based on a large pedigree, Acta Psychiatr Neurol Scand, pp.341-376, 1959.

R. Paisey, New insights and therapies for the metabolic consequences of Alstr??m syndrome, Current Opinion in Lipidology, vol.20, issue.4, pp.315-320, 2009.
DOI : 10.1097/MOL.0b013e32832dd51a

I. Russell-eggitt, P. Clayton, R. Coffey, A. Kriss, D. Taylor et al., Alstr??m syndrome, Ophthalmology, vol.105, issue.7, pp.1274-128, 1998.
DOI : 10.1016/S0161-6420(98)97033-6

M. Loudon, N. Bellenger, C. Carey, and R. Paisey, Cardiac magnetic resonance imaging in Alström syndrome, Orphanet J Rare Dis, p.14, 2009.

E. Khoo, J. Risley, A. Zaitoun, M. El-sheikh, R. Paisey et al., Alstr??m Syndrome and Cecal Volvulus in 2 Siblings, The American Journal of the Medical Sciences, vol.337, issue.5, pp.383-385, 2009.
DOI : 10.1097/MAJ.0b013e3181926594

J. Marshall, R. Bronson, C. G. Nordstrom, A. Maffei, P. Paisey et al., New Alström syndrome phenotypes based on the evaluation of 182 cases, Arch Intern Med, issue.6, pp.165675-683, 2005.

R. Paisey, C. Carey, L. Bower, J. Marshall, P. Taylor et al., Hypertriglyceridaemia in Alstrom's syndrome: causes and associations in 37 cases, Clinical Endocrinology, vol.114, issue.2, pp.228-231, 2004.
DOI : 10.1046/j.1464-5491.2002.00745.x

T. Hearn, G. Renforth, C. Spalluto, N. Hanley, K. Piper et al., Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome, Nat Genet, issue.1, pp.3179-83, 2002.

G. Collin, J. Marshall, A. Ikeda, V. So, W. Russell-eggitt et al., Mutations in ALMS1 cause obesity, type 2 diabetes andneurosensory degeneration in Alström syndrome, Nat Genet, vol.31, pp.74-78, 2002.

J. Marshall, P. Maffei, G. Collin, and J. Naggert, Alstrom Syndrome: Genetics and Clinical Overview, Current Genomics, vol.12, issue.3, pp.225-235, 2011.
DOI : 10.2174/138920211795677912

P. Beales, N. Elcioglu, A. Woolf, D. Parker, and F. Flinter, New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey, J Med Genet, vol.36, issue.6, pp.437-446, 1999.

C. Redin, L. Gras, S. Mhamdi, O. Geoffroy, V. Stoetzel et al., Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstr??m Syndromes, Journal of Medical Genetics, vol.49, issue.8, pp.49502-512
DOI : 10.1136/jmedgenet-2012-100875

V. Labay, T. Raz, D. Baron, H. Mandel, H. Williams et al., Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness, Nat Genet, vol.22, issue.3, pp.300-304, 1999.

M. Delepine, M. Nicolino, T. Barrett, M. Golomaully, G. Lathrop et al., E1F2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome, Nat Genet, vol.25, pp.406-409, 2000.

I. Fokkema, P. Taschner, G. Schaafsma, J. Celli, J. Laros et al., LOVD v2.0: The Next Generation in Gene Variant Databases, Hum Mutat, vol.35, issue.5, pp.557-563, 2011.

B. Godard, H. Kaariainen, U. Kristoffersson, L. Tranebjaerg, D. Coviello et al., Provision of genetic services in Europe: current practices and issues, European Journal of Human Genetics, vol.11
DOI : 10.1038/sj.ejhg.5201111

S. Aymé, Provision of genetic services in Europe: current practices and issues, Eur J Hum Genet, vol.11, pp.900-902, 2003.

C. Eng, J. Fletcher, W. Wilcox, S. Waldek, C. Scott et al., Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry, Journal of Inherited Metabolic Disease, vol.75, issue.2, pp.184-192, 2007.
DOI : 10.1007/s10545-007-0521-2

S. Aymé, A. Kole, and C. Rodwell, RDTF Report on Patient registries the field of rare diseases: Overview of the issues surrounding the establishment, governance and financing of academic registries, 2011.