D. Raffelsbauer, La maladie de Huntington -European Hungtington's Disease Network

P. Gonzalez-alegre and A. K. Afifi, Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature, J Child Neurol. mars, vol.21, issue.3, pp.223-232, 2006.

M. A. Nance, Genetic testing of children at risk for Huntington's disease

, Huntington Disease Genetic Testing Group. Neurology. oct, vol.49, issue.4, pp.1048-53, 1997.

F. Lopes, M. Barbosa, A. Ameur, G. Soares, J. De-sá et al., Identification of novel genetic causes of Rett syndrome-like phenotypes, J Med Genet. mars, vol.53, issue.3, pp.190-199, 2016.

L. H. Rodan, J. Cohen, A. Fatemi, T. Gillis, D. Lucente et al., A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene, Eur J Hum Genet EJHG, vol.24, issue.12, pp.1826-1833, 2016.

F. Squitieri, C. Gellera, M. Cannella, C. Mariotti, G. Cislaghi et al., Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course, Brain J Neurol. avr, vol.126, pp.946-55, 2003.

F. A. Nahhas, J. Garbern, K. M. Krajewski, B. B. Roa, and G. L. Feldman, Juvenile onset Huntington disease resulting from a very large maternal expansion, American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, vol.137, p.31, 2005.

S. Papapetropoulos, R. Lopez-alberola, L. Baumbach, A. Russell, M. A. Gonzalez et al., Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat, Mov Disord, vol.20, issue.10, pp.1380-1383, 2005.

S. Seneca, D. Fagnart, K. Keymolen, W. Lissens, D. Hasaerts et al., Early onset Huntington disease: a neuronal degeneration syndrome, Eur J Pediatr. déc, vol.163, issue.12, pp.717-738, 2004.

J. M. Milunsky, T. A. Maher, B. A. Loose, B. T. Darras, and M. Ito, XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease, Clin Genet. juill, vol.64, issue.1, pp.70-73, 2003.

S. Metzger, M. Saukko, H. Van-che, L. Tong, Y. Puder et al., Age at onset in Huntington's disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7, Hum Genet, vol.128, issue.4, pp.453-462, 2010.

R. Ghosh and S. J. Tabrizi, Clinical Aspects of Huntington's Disease, Curr Top Behav Neurosci, vol.22, pp.3-31, 2015.

R. Roos, Huntington's disease: a clinical review, Orphanet J Rare Dis. 20 déc, vol.5, p.40, 2010.

H. H. Ruocco, I. Lopes-cendes, T. L. Laurito, L. M. Li, and F. Cendes, Clinical presentation of juvenile Huntington disease, Arq Neuropsiquiatr. mars, vol.64, issue.1, p.9, 2006.

S. Siesling, M. Vegter-van-der-vlis, and R. A. Roos, Juvenile Huntington disease in the Netherlands, Pediatr Neurol. juill, vol.17, issue.1, p.43, 1997.

S. Xing, L. Chen, X. Chen, Z. Pei, J. Zeng et al., Excessive blinking as an initial manifestation of juvenile Huntington's disease, Neurol Sci. sept, vol.29, issue.4, pp.275-282, 2008.

A. Gambardella, M. Muglia, A. Labate, A. Magariello, A. L. Gabriele et al.,

, Juvenile Huntington's disease presenting as progressive myoclonic epilepsy, Neurology. 28 août, vol.57, issue.4, pp.708-719, 2001.

G. Yoon, J. Kramer, A. Zanko, M. Guzijan, S. Lin et al., Speech and language delay are early manifestations of juvenile-onset Huntington disease, Neurology, vol.67, issue.7, pp.1265-1272, 2006.

M. Vamos, J. Hambridge, M. Edwards, and J. Conaghan, The impact of Huntington's disease on family life, Psychosomatics. sept, vol.48, issue.5, pp.400-404, 2007.

W. R. Beardslee, T. R. Gladstone, E. J. Wright, and A. B. Cooper, A family-based approach to the prevention of depressive symptoms in children at risk: evidence of parental and child change, Pediatrics. août, vol.112, issue.2, pp.119-150, 2003.

P. Ribai, K. Nguyen, V. Hahn-barma, I. Gourfinkel-an, M. Vidailhet et al., Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients, Arch Neurol. juin, vol.64, issue.6, pp.813-822, 2007.

J. A. Smith, H. M. Brewer, V. Eatough, C. A. Stanley, N. W. Glendinning et al., The personal experience of juvenile Huntington's disease: an interpretative phenomenological analysis of parents' accounts of the primary features of a rare genetic condition, Clin Genet. juin, vol.69, issue.6, pp.486-96, 2006.

V. B. Ho, H. S. Chuang, M. J. Rovira, and B. Koo, Juvenile Huntington disease: CT and MR features, AJNR Am J Neuroradiol. août, vol.16, issue.7, pp.1405-1417, 1995.

H. D. Rosas, W. J. Koroshetz, Y. I. Chen, C. Skeuse, M. Vangel et al.,

, Evidence for more widespread cerebral pathology in early HD: an MRI-based morphometric analysis, Neurology. 27 mai, vol.60, issue.10, pp.1615-1635, 2003.

M. Schapiro, K. M. Cecil, J. Doescher, A. M. Kiefer, and B. V. Jones, MR imaging and spectroscopy in juvenile Huntington disease, Pediatr Radiol. août, vol.34, issue.8, pp.640-643, 2004.

S. Sakazume, S. Yoshinari, E. Oguma, E. Utsuno, T. Ishii et al., A patient with early onset Huntington disease and severe cerebellar atrophy, Am J Med Genet A. 15 févr, vol.149, issue.4, p.601, 2009.

G. Nicolas, D. Devys, A. Goldenberg, D. Maltete, C. Herve et al., Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume, Am J Med Genet A. avr, vol.155, issue.4, pp.815-823, 2011.

R. K. Lehman and M. Nance, Predictive testing for Huntington's disease: a challenge for persons at risk and for professionals, Evers-Kiebooms G, Decruyenaere M, vol.80, pp.15-26, 1998.

P. Tozzo, L. Caenazzo, and D. Rodriguez, Genetic Testing for Minors: Comparison between Italian and British Guidelines, Genet Res Int, vol.2012, p.786930, 2012.

L. Joly, C. Thauvin-robinet, F. Huet, J. M. Pinoit, A. Contrain et al., Genetic testing in asymptomatic minors: a survey among French geneticists, Arch Pediatr. juill, vol.17, issue.7, pp.1000-1007, 2010.

J. P. Osborne, P. Munson, and D. Burman, Report of 3 cases and review of the literature, Arch Child. févr, vol.57, issue.2, pp.99-103, 1982.

A. Durr and S. Viville,

, Gynecol Obstet Fertil, vol.35, issue.10, pp.1051-1055, 2007.

H. Bouchghoul, S. Clément, D. Vauthier, C. Cazeneuve, S. Noel et al., Prenatal testing in Huntington disease: after the test, choices recommence, Eur J Hum Genet EJHG, vol.24, issue.11, pp.1535-1575, 2016.

G. Stevanin, A. Camuzat, S. E. Holmes, C. Julien, R. Sahloul et al., CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients, Neurology. 26 mars, vol.58, issue.6, pp.965-972, 2002.

S. A. Sørensen and K. Fenger, Causes of death in patients with Huntington's disease and in unaffected first degree relatives, J Med Genet. déc, vol.29, issue.12, pp.911-915, 1992.

A. Heemskerk and R. Roos, Aspiration pneumonia and death in Huntington's disease, PLoS Curr. 30 janv, vol.4, p.1293, 2012.

J. Sipilä, J. P. Posti, and K. Majamaa, Chronic subdural hematomas in Finnish patients with Huntington's disease, Acta Neurochir (Wien). août, vol.158, issue.8, pp.1487-90, 2016.

K. C. Patra and M. S. Shirolkar, Childhood-onset (Juvenile) Huntington's disease: A rare case report, J Pediatr Neurosci. sept, vol.10, issue.3, pp.276-285, 2015.

A. D. Moser, E. Epping, P. Espe-pfeifer, M. E. Zhorne, L. Mathews et al., A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington's disease. Neurodegener Dis Manag, vol.7, pp.307-322, 2017.

L. A. Farrer and P. M. Conneally, Predictability of phenotype in Huntington's disease, Arch Neurol. janv, vol.44, issue.1, p.13, 1987.

J. H. Menkes, Huntington disease: finding the gene and after, Pediatr Neurol. avr, vol.4, issue.2, pp.73-81, 1988.

R. H. Myers, D. Goldman, E. D. Bird, D. S. Sax, C. R. Merril et al., Maternal transmission in Huntington's disease, Lancet Lond Engl. 29 janv, vol.1, issue.8318, p.10, 1983.

M. A. Nance and R. H. Myers, Juvenile onset Huntington's disease--clinical and research perspectives, Ment Retard Dev Disabil Res Rev, vol.7, issue.3, pp.153-160, 2001.

F. Keenan, K. Miedzybrodzka, Z. Van-teijlingen, E. Mckee, L. Simpson et al., Young people's experiences of growing up in a family affected by Huntington's disease, Clin Genet. févr, vol.71, issue.2, p.9, 2007.

N. S. Coulson, H. Buchanan, and A. Aubeeluck, Social support in cyberspace: a content analysis of communication within a Huntington's disease online support group. Patient Educ Couns, vol.68, pp.173-181, 2007.

W. R. Beardslee, E. M. Versage, and T. R. Gladstone, Children of affectively ill parents: a review of the past 10 years. J Am Acad Child Adolesc Psychiatry, vol.37, pp.1134-1175, 1998.

G. Koutsis, G. Karadima, A. Kladi, and M. Panas, The challenge of juvenile Huntington disease: to test or not to test, Neurology. 12 mars, vol.80, issue.11, pp.990-996, 2013.

R. Andre, E. J. Wild, and S. J. Tabrizi, Huntington's disease: fighting on many fronts, Brain J Neurol. avr, vol.135, pp.998-1001, 2012.