J. Wraith, M. Baumgartner, and B. Bembi, Recommandations on the diagnosis and management of Niemann-Pick disease type C

L. Tyvaert, T. Stojkovic, and J. Cuisset, Troubles psychiatriques r??v??lateurs d???une maladie de Niemann-Pick de type C ?? l?????ge adulte, Revue Neurologique, vol.161, issue.3, pp.318-340, 2005.
DOI : 10.1016/S0035-3787(05)85038-6

M. Vanier and G. Millat, Niemann-Pick disease type C, Clinical Genetics, vol.11, issue.5323, pp.269-81, 2003.
DOI : 10.1034/j.1399-0004.2003.00147.x

URL : https://hal.archives-ouvertes.fr/inserm-00410410

M. Patterson, M. Vanier, K. Suzuki, and J. Morris, Niemann-Pick disease type C : a lipid trafficking disorder

J. Imrie, S. Dasgupta, and G. Besley, The natural history of Niemann???Pick disease type C in the UK, Journal of Inherited Metabolic Disease, vol.1096, issue.1, pp.51-59, 2007.
DOI : 10.1007/s10545-006-0384-7

J. Wraith, J. Imrie, P. Pentchev, M. Comly, H. Kruth et al., Understanding Niemann-Pick disease type C and its potential treatment Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts, 2007.

F. Sedel, Diagnostic clinique des formes de l???adulte de la maladie de Niemann-Pick type C, Archives de P??diatrie, vol.17, pp.50-53, 2010.
DOI : 10.1016/S0929-693X(10)70012-9

M. Patterson, C. Hendriksz, and M. Walterfang, Recommendations for the diagnosis and management of Niemann???Pick disease type C: An update, Molecular Genetics and Metabolism, vol.106, issue.3
DOI : 10.1016/j.ymgme.2012.03.012

J. Turpin and N. Baumann, Manifestations psychiatriques ou cognitives inaugurales dans les neurolipidoses de l'adulte, Rev Neurol (Paris), vol.159, pp.637-684, 2001.

O. Bonnot, A. Leroy, and R. Lucanto, Pourquoi s???int??resser ?? la maladie de Niemann Pick de type C quand on est psychiatre d???enfant et d???adolescent???, Neuropsychiatrie de l'Enfance et de l'Adolescence, vol.59, issue.6, pp.385-91, 2011.
DOI : 10.1016/j.neurenf.2011.04.004

M. Walterfang, M. Fietz, and M. Fahey, The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood, The Journal of Neuropsychiatry and Clinical Neurosciences, vol.18, issue.2, pp.158-70, 2006.
DOI : 10.1176/jnp.2006.18.2.158

M. Sévin, G. Lesca, and N. Baumann, The adult form of Niemann-Pick disease type C, Brain, vol.130, issue.1, pp.120-153, 2007.
DOI : 10.1093/brain/awl260

M. Vanier, Niemann-Pick disease type C, Orphanet Journal of Rare Diseases, vol.5, issue.1, p.16, 2010.
DOI : 10.1186/1750-1172-5-16

URL : https://hal.archives-ouvertes.fr/inserm-00410410

F. Sedel, N. Baumann, and J. Turpin, Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults, Journal of Inherited Metabolic Disease, vol.55, issue.5, pp.631-672, 2007.
DOI : 10.1007/s10545-007-0661-4

J. Imrie, S. Vijayaraghaven, and C. Whitehouse, Niemann-Pick disease type C in adults, Journal of Inherited Metabolic Disease, vol.25, issue.6, pp.491-500, 2002.
DOI : 10.1023/A:1021259403196

M. Walterfang and D. Velakoulis, Niemann-Pick Disease Type C in Adulthood - A Psychiatric and Neurological Disorder, European Neurological Review, vol.5, issue.1, pp.16-20, 2010.
DOI : 10.17925/ENR.2010.05.01.83

O. Bonnot, Niemann-Pick disease type C ? example of an inborn error of metabolism producing psychiatric manifestations, Eur Psychiatr Rev, vol.4, issue.2, pp.84-92, 2011.

C. Tranchant, La maladie de Niemann-Pick de type C, Pratique Neurologique - FMC, vol.2, issue.4, pp.229-265, 2011.
DOI : 10.1016/j.praneu.2011.07.001

S. Sandu, S. Jackowski-dohrmann, and A. Ladner, Niemann???Pick disease type C1 presenting with psychosis in an adolescent male, European Child & Adolescent Psychiatry, vol.18, issue.9, pp.583-588, 2009.
DOI : 10.1007/s00787-009-0010-2

URL : https://hal.archives-ouvertes.fr/hal-00535140

J. Turpin, M. Masson, and N. Baumann, Clinical Aspects of Niemann-Pick Type C Disease in the Adult, Developmental Neuroscience, vol.13, issue.4-5, pp.4-5304, 1991.
DOI : 10.1159/000112177

C. Van-de-vlasakker, F. Gabreëls, H. Wijburg, and R. Wevers, Clinical features of Niemann-Pick disease type C an example of the delayed onset, slowly progressive phenotype and an overview of recent literature, Clinical Neurology and Neurosurgery, vol.96, issue.2, pp.119-142, 1994.
DOI : 10.1016/0303-8467(94)90044-2

M. Vanier, C. Rodriguez-lafrasse, and R. Rousson, Type C Niemann-Pick disease: spectrum of phenotype variation in disruption of intracellular LDL-derived cholesterol processing, Biochim. Biophys. Acta, pp.328-365, 1991.

W. Garver, G. Francis, and D. Jelinek, The National Niemann???Pick C1 disease database: Report of clinical features and health problems, American Journal of Medical Genetics Part A, vol.276, issue.11
DOI : 10.1002/ajmg.a.31735

O. Staretz-chacham, J. Choi, and K. Wakabayashi, Psychiatric and behavioral manifestations of lysosomal storage disorders, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol.153, issue.1
DOI : 10.1002/ajmg.b.31097

D. Webber and H. Klünemann, Psychiatric Manifestations of Niemann-Pick Disease, J Inherit Metab Dis, vol.4, issue.1, pp.25-31, 2011.

C. Battisti, P. Tarugi, and M. Dotti, Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study, Movement Disorders, vol.52, issue.11, p.11, 2003.
DOI : 10.1002/mds.10541

J. Campo, R. Stowe, and G. Slomka, Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C, Developmental Medicine & Child Neurology, vol.13, issue.2, pp.126-129, 1998.
DOI : 10.1111/j.1469-8749.1998.tb15374.x

C. Davidson and S. Walkley, Niemann-Pick Type C Disease???Pathophysiology and Future Perspectives for Treatment, US Neurology, vol.06, issue.01, pp.22-30, 2010.
DOI : 10.17925/USN.2010.06.01.88

K. Harzer, S. Beck-wödl, and P. Bauer, Niemann-Pick Disease Type C: New Aspects in a Long Published Family ??? Partial Manifestations in Heterozygotes, JIMD Rep, vol.12, pp.25-34, 2014.
DOI : 10.1007/8904_2013_240

J. Higgins and M. Patterson, A clinical staging classification for type C Niemann-Pick disease, Neurology, vol.42, issue.12, pp.2286-90, 1992.
DOI : 10.1212/WNL.42.12.2286

H. Xiong, X. Bao, and Y. Zhang, Niemann-Pick disease type C: analysis of 7 patients, World Journal of Pediatrics, vol.153, issue.1
DOI : 10.1007/s12519-011-0284-6

C. Iturriaga, M. Pineda, and E. Fernandez-valero, Niemann???Pick C disease in Spain: Clinical spectrum and development of a disability scale, Journal of the Neurological Sciences, vol.249, issue.1, pp.1-6, 2006.
DOI : 10.1016/j.jns.2006.05.054

C. Rodriguez-lafrasse, R. Rousson, and P. Pentchev, Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, vol.1226, issue.2, pp.138-144, 1994.
DOI : 10.1016/0925-4439(94)90021-3

T. Trouard, R. Heidenreich, and J. Seeger, Diffusion Tensor Imaging in Niemann-Pick Type C Disease, Pediatric Neurology, vol.33, issue.5, pp.325-330, 2005.
DOI : 10.1016/j.pediatrneurol.2005.05.004

M. Pineda, J. Wraith, and F. Sedel, Miglustat in patients with Niemann-Pick Type C disease (NPC) : a multicentre retrospective survey

G. Millat, C. Marcais, and M. Rafi, Niemann-Pick C1 Disease: The I1061T Substitution Is a Frequent Mutant Allele in Patients of Western European Descent and Correlates with a Classic Juvenile Phenotype, The American Journal of Human Genetics, vol.65, issue.5
DOI : 10.1086/302626

B. Klarner, H. Klünemann, and R. Lürding, Neuropsychological profile of adult patients with Niemann???Pick C1 (NPC1) mutations, Journal of Inherited Metabolic Disease, vol.30, issue.26, pp.60-67, 2007.
DOI : 10.1007/s10545-006-0417-6

H. Klünemann, P. Santosh, and F. Sedel, Treatable metabolic psychoses that go undetected: What Niemann-Pick type C can teach us, International Journal of Psychiatry in Clinical Practice, vol.2, issue.56
DOI : 10.1016/S1474-4422(07)70194-1

K. Josephs, M. Van-gerpen, and J. Van-gerpen, Adult onset Niemann-Pick disease type C presenting with psychosis, Journal of Neurology, Neurosurgery & Psychiatry, vol.74, issue.4
DOI : 10.1136/jnnp.74.4.528

URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738356

L. Abel, M. Walterfang, and M. Fietz, Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits, Neurology, vol.72, issue.12, pp.1083-1089, 2009.
DOI : 10.1212/01.wnl.0000345040.01917.9d

E. Mengel, H. Klünemann, and C. Lourenço, Niemann-Pick disease type C symptomatology: an expert-based clinical description, Orphanet Journal of Rare Diseases, vol.8, issue.1
DOI : 10.1111/j.1468-1331.2011.03545.x

URL : http://doi.org/10.1186/1750-1172-8-166

E. Llyod-evans and F. Platt, Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease, Traffic, vol.147, issue.11, pp.419-447, 2010.
DOI : 10.1111/j.1600-0854.2010.01032.x

F. Wijburg, F. Sedel, and M. Pineda, Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C, Neurology, vol.78, issue.20, pp.1560-67, 2012.
DOI : 10.1212/WNL.0b013e3182563b82

M. Walterfang, Y. Chien, and J. Imrie, Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat, Orphanet Journal of Rare Diseases, vol.7, issue.1, pp.7-76, 2012.
DOI : 10.1002/mds.23060

N. Yanjanin, J. Velez, and A. Gropman, Linear Clinical Progression, Independent of Age of Onset

J. Wraith, N. Guffon, and M. Rohrbach, Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study

A. Lossos, I. Schlesinger, and E. Okon, Adult-Onset Niemann-Pick type C disease. Clinical, biochemical, and genetic study

S. Love, L. Bridges, and P. Case, Neurofibrillary tangles in Niemann???Pick disease type C, Brain, vol.118, issue.1, pp.119-129, 1995.
DOI : 10.1093/brain/118.1.119

K. Omura, Y. Suzuki, and N. Norose, Type C Niemann-Pick disease: Clinical and biochemical studies on 6 cases, Brain and Development, vol.11, issue.1, pp.57-61, 1989.
DOI : 10.1016/S0387-7604(89)80010-5

M. Elleder, A. Jirasek, and F. Smid, Niemann-Pick disease type C, Acta Neuropathologica, vol.31, issue.Suppl, pp.325-336, 1985.
DOI : 10.1007/BF00690966

M. Elleder, A. Jirasek, and J. Vlk, Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C, Virchows Archiv A Pathological Anatomy and Histopathology, vol.17, issue.1, pp.35-43, 1998.
DOI : 10.1007/BF00644787

M. Patterson, D. Vecchio, and H. Prady, Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study, The Lancet Neurology, vol.6, issue.9, pp.765-72, 2007.
DOI : 10.1016/S1474-4422(07)70194-1

C. Dumontel, C. Girod, and F. Dijoud, Fetal Niemann-Pick disease type C: Ultrastructural and lipid findings in liver and spleen, Virchows Archiv A Pathological Anatomy and Histopathology, vol.110, issue.3, pp.253-259, 1993.
DOI : 10.1007/BF01621810

S. Nia, Psychiatric signs and symptoms in treatable inborn errors of metabolism, Journal of Neurology, vol.98, issue.Suppl 3, pp.559-568, 2014.
DOI : 10.1007/s00415-014-7396-6

G. Trendelenburg, M. Vanier, and S. Maza, Niemann-Pick type C disease in a 68-year-old patient, Journal of Neurology, Neurosurgery & Psychiatry, vol.77, issue.8
DOI : 10.1136/jnnp.2005.086785

M. Walterfang, M. Fietz, and L. Abel, Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C, Journal of Inherited Metabolic Disease, vol.37, issue.1, pp.221-226, 2009.
DOI : 10.1007/s10545-009-1173-1

A. Burlina, Niemann???Pick disease type C: introduction and main clinical features, Journal of Neurology, vol.37, issue.S2, pp.525-527, 2014.
DOI : 10.1007/s00415-014-7382-z

URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141151

P. Bauer, D. Balding, and H. Klünemann, Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study, Human Molecular Genetics, vol.22, issue.21, pp.4349-4356, 2013.
DOI : 10.1093/hmg/ddt284

M. Vanier, Maladie de Niemann-Pick type C : aspects historiques et actuels, diagnostic biochimique et g??n??tique, Archives de P??diatrie, vol.17, pp.41-44, 2010.
DOI : 10.1016/S0929-693X(10)70010-5