H. Jr and W. , Cerebrotendinous xanthomatosis, N Engl J Med, vol.278, p.857, 1968.

V. Berginer, G. Salen, and S. Shefer, Cerebrotendinous Xanthomatosis, Neurol Clin, vol.7, pp.55-74, 1989.
DOI : 10.1016/B978-0-12-410529-4.00052-8

M. Moghadasian, G. Salen, J. Frohlich, and C. Scudamore, Cerebrotendinous Xanthomatosis, Archives of Neurology, vol.59, issue.4, pp.527-529, 2002.
DOI : 10.1001/archneur.59.4.527

M. Moghadasian, Cerebrotendinous Xanthomatosis, Archives of Neurology, vol.59, issue.4, pp.42-50, 2004.
DOI : 10.1001/archneur.59.4.527

G. Salen, S. Shefer, and V. Berginer, Biochemical Abnormalities in Cerebrotendinous Xanthomatosis, Developmental Neuroscience, vol.13, issue.4-5, pp.363-370, 1991.
DOI : 10.1159/000112186

E. Leitersdorf and V. Meiner, Cerebrotendinous xanthomatosis, Current Opinion in Lipidology, vol.5, issue.2, pp.138-142, 1994.
DOI : 10.1097/00041433-199404000-00010

O. Bonnot, M. Fraidakis, R. Lucanto, D. Chauvin, N. Kelley et al., ABSTRACT, CNS Spectrums, vol.159, issue.04, pp.231-236, 2010.
DOI : 10.1007/s10545-007-0661-4

A. Verrips, R. Wevers, B. Van-engelen, A. Keyser, B. Wolthers et al., Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis, Metabolism, vol.48, issue.2, pp.233-238, 1999.
DOI : 10.1016/S0026-0495(99)90040-9

M. Lorincz, S. Rainier, D. Thomas, and J. Fink, Cerebrotendinous Xanthomatosis, Archives of Neurology, vol.62, issue.9, pp.1459-1463, 2005.
DOI : 10.1001/archneur.62.9.1459

A. Reshef, V. Meiner, V. Berginer, and E. Leitersdorf, Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin, J Lipid Res, vol.35, pp.478-483, 1994.

J. Cruysberg, B. Koopman, B. Wolthers, and H. Oosterhuis, Cerebrotendinous xanthomatosis: juvenile cataract and chronic diarrhea before the onset of neurologic disease Cerebrotendinous xanthomatosis (CTX): a clinical survey of the patient population in The Netherlands, Arch Neurol Clin Neurol Neurosurg, vol.59, issue.89, pp.169-175, 1987.

F. Grandas, M. Martín-moro, S. Garcia-muñ-ozguren, and F. Anaya, Early-onset parkinsonism in cerebrotendinous xanthomatosis, Movement Disorders, vol.67, issue.6, p.13961397, 2002.
DOI : 10.1136/jnnp.67.2.195

R. Gilad, Y. Lampl, D. Lev, and M. Sadeh, Cerebrotendinous xanthomatosis without xanthomas, Clinical Genetics, vol.94, issue.5, pp.405-406, 1999.
DOI : 10.1034/j.1399-0004.1999.560510.x

R. Fleischmajer, G. Tint, and H. Bennett, Normolipemic tendon and tuberous xanthomas, Journal of the American Academy of Dermatology, vol.5, issue.3, pp.290-296, 1981.
DOI : 10.1016/S0190-9622(81)70094-X

P. Chen, R. Fleck, C. Calisi, J. Kozina, and G. Feld, Macroreentrant ventricular tachycardia and coronary artery disease in cerebrotendinous xanthomatosis, The American Journal of Cardiology, vol.64, issue.10, pp.680-682, 1989.
DOI : 10.1016/0002-9149(89)90505-5

M. Kawabata, M. Kuriyama, S. Mori, I. Sakashita, and M. Osame, Pulmonary Manifestations in Cerebrotendinous Xanthomatosis., Internal Medicine, vol.37, issue.11, pp.901-902, 1998.
DOI : 10.2169/internalmedicine.37.922

V. Berginer, S. Shany, D. Alkalay, J. Berginer, S. Dekel et al., Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis, Metabolism, vol.42, issue.1, pp.1497-1498, 1993.
DOI : 10.1016/0026-0495(93)90174-M

V. Berginer, N. Foster, M. Sadowsky, T. , J. Siegel et al., Psychiatric disorders in patients with cerebrotendinous xanthomatosis, Am J Psychiatry, vol.145, pp.354-357, 1988.

Y. Lin, P. Chiu, N. Chang, W. Wen, and J. , Cerebrotendinous xanthomatosis with psychiatric disorders: report of three siblings and literature review, Chang Gung Med J, vol.25, pp.334-340, 2002.

P. Evans, D. Salah, K. Mobrad, M. Mitchell, W. Olin et al., Cerebrotendinous xanthomatosis in a Saudi Arabian family-genotyping and longterm follow-up, Saudi Med J, vol.28, pp.1113-1118, 2007.

M. Philippart and L. Van-bogaert, Cholestanolosis (Cerebrotendinous Xanthomatosis), Archives of Neurology, vol.21, issue.6, pp.603-610, 1969.
DOI : 10.1001/archneur.1969.00480180059004

S. Shapiro, Depression in a Patient with Dementia Secondary to Cerebrotendinous Xanthomatosis, The Journal of Nervous and Mental Disease, vol.171, issue.9, pp.568-571, 1983.
DOI : 10.1097/00005053-198309000-00008

M. 25-burnstein, K. Buckwalter, W. Martel, K. Mcclatchey, and Q. D. , Case report 427, Skeletal Radiology, vol.57, issue.4, pp.346-349, 1987.
DOI : 10.1007/BF00361481

A. Laurent, F. Dairou, G. Luc, J. Truffert, J. Lapresle et al., Van Bogaert's cerebrotendinous xanthomatosis. A study of 3 cases], Ann Med Interne (Paris), vol.139, pp.395-402, 1988.

R. Wevers, J. Cruysberg, V. Heijst, A. Janssen-zijlstra, F. Renier et al., Paediatric cerebrotendinous xanthomatosis, Journal of Inherited Metabolic Disease, vol.131, issue.3, pp.374-376, 1992.
DOI : 10.1212/WNL.41.3.434

D. Soffer, D. Benharroch, and V. Berginer, The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literature, Acta Neuropathologica, vol.89, issue.2, pp.213-220, 1995.
DOI : 10.1007/BF00294324

A. Verrips, G. Steenbergen-spanjers, J. Luyten, L. Van-den-heuvel, A. Keyser et al., Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis, Human Genetics, vol.98, issue.6, pp.735-737, 1996.
DOI : 10.1007/s004390050294

J. Sperhake, J. Matschke, U. Orth, and A. Gal, Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis, International Journal of Legal Medicine, vol.113, issue.2, pp.110-113, 2000.
DOI : 10.1007/PL00007709

S. Sugama, A. Kimura, W. Chen, S. Kubota, Y. Seyama et al., Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene (CYP27), Journal of Inherited Metabolic Disease, vol.24, issue.3, pp.379-392, 2001.
DOI : 10.1023/A:1010564920930

M. Dotti, A. Rufa, and A. Federico, Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings, Journal of Inherited Metabolic Disease, vol.24, issue.7, pp.696-706, 2001.
DOI : 10.1023/A:1012981019336

D. Bartholdi, D. Zumsteg, A. Verrips, R. Wevers, E. Sistermans et al., Spinal phenotype of cerebrotendinous xanthomatosis, Journal of Neurology, vol.251, issue.1, pp.105-107, 2004.
DOI : 10.1007/s00415-004-0221-x

L. Guyant-marechal, A. Verrips, C. Girard, R. Wevers, F. Zijlstra et al., Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype, American Journal of Medical Genetics Part A, vol.57, issue.2, pp.114-117, 2005.
DOI : 10.1212/WNL.41.3.434

T. 35-siman-tov, V. Meiner, and N. Gadoth, Could steroids mask the diagnosis of cerebrotendinous xanthomatosis?, Journal of the Neurological Sciences, vol.243, issue.1-2, pp.83-86, 2006.
DOI : 10.1016/j.jns.2005.10.019

L. Gonzalez-cuyar, B. Hunter, P. Harris, G. Perry, M. Smith et al., Cerebrotendinous xanthomatosis: case report with evidence of oxidative stress, Redox Report, vol.85, issue.3, pp.119-124, 2007.
DOI : 10.1111/j.1528-1157.1995.tb01061.x

B. Pilo-de-la-fuente, I. Ruiz, A. Lopez-de-munain, and A. Jimenez-escrig, Cerebrotendinous xanthomatosis: Neuropathological findings, Journal of Neurology, vol.57, issue.6, pp.839-842, 2008.
DOI : 10.1148/radiology.217.3.r00dc03869

M. Szlago, G. Gallus, A. Schenone, M. Patiñ-o, Z. Sfaelo et al., THE FIRST CEREBROTENDINOUS XANTHOMATOSIS FAMILY FROM ARGENTINA: A NEW MUTATION IN CYP27A1 GENE, Neurology, vol.70, issue.5, pp.402-404, 2008.
DOI : 10.1212/01.wnl.0000280460.28039.3d

M. Zacherl, H. Sourij, A. Beham, W. Emberger, A. Leithner et al., Cerebrotendinous xanthomatosis, Der Orthop??de, vol.88, issue.7, pp.704-708, 2008.
DOI : 10.1007/s00132-008-1275-8

J. Filippi, S. Irarrázaval, P. Peredo, and P. Mellado, Cerebrotendinous xanthomatosis: report of one case], Rev Med Chil, vol.137, pp.815-820, 2009.

C. Chang, C. Lui, J. Wang, S. Huang, C. Lu et al., Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations, BMC Neurology, vol.61, issue.Pt 5, p.59, 2010.
DOI : 10.1002/mrm.21965

B. Pilo-de-la-fuente, M. Sobrido, M. Giró-s, L. Pozo, M. Lustres et al., Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis, Neurolog??a (English Edition), vol.26, issue.7, pp.397-404, 2011.
DOI : 10.1016/j.nrleng.2010.12.002

B. Pilo-de-la-fuente, A. Jimenez-escrig, J. Lorenzo, J. Pardo, M. Arias et al., Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey, European Journal of Neurology, vol.90, issue.10, pp.1203-1211, 2011.
DOI : 10.1007/BF00294324

F. Barkhof, A. Verrips, P. Wesseling, M. Van-der-knaap, B. Van-engelen et al., Cerebrotendinous Xanthomatosis: The Spectrum of Imaging Findings and the Correlation with Neuropathologic Findings, Radiology, vol.217, issue.3, pp.869-876, 2000.
DOI : 10.1148/radiology.217.3.r00dc03869

F. Vanrietvelde, M. Lemmerling, M. Mespreuve, L. Crevits, D. Reuck et al., MRI of the brain in cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease), European Radiology, vol.10, issue.4, pp.576-578, 2000.
DOI : 10.1007/s003300050964

D. Stefano, N. Dotti, M. Mortilla, M. Federico, and A. , Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis, Brain, vol.124, issue.1, pp.121-131, 2001.
DOI : 10.1093/brain/124.1.121

L. Bogaert, H. Scherer, and E. Epstein, Cerebral Form of Generalized Cholesterinose, 1937.

L. Bogaert, H. Scherer, A. Froelich, and E. Epstein, Une deuxieme observation de cholesterinose tendineuse symetrique avec symptomes cerebraux, Ann Med, vol.42, p.69, 1937.

B. Dubois, A. Slachevsky, I. Litvan, and B. Pillon, The FAB: A frontal assessment battery at bedside, Neurology, vol.55, issue.11, pp.1621-1626, 2000.
DOI : 10.1212/WNL.55.11.1621

A. Slachevsky, J. Villalpando, M. Sarazin, V. Hahn-barma, B. Pillon et al., Frontal Assessment Battery and Differential Diagnosis of Frontotemporal Dementia and Alzheimer Disease, Archives of Neurology, vol.61, issue.7, pp.1104-1107, 2004.
DOI : 10.1001/archneur.61.7.1104

J. Menkes, J. Schimschock, and P. Swanson, Cerebrotendinous Xanthomatosis, Archives of Neurology, vol.19, issue.1, pp.47-53, 1968.
DOI : 10.1001/archneur.1968.00480010065004

G. Salen, V. Berginer, V. Shore, I. Horak, E. Horak et al., Increased Concentrations of Cholestanol and Apolipoprotein B in the Cerebrospinal Fluid of Patients with Cerebrotendinous Xanthomatosis, New England Journal of Medicine, vol.316, issue.20, pp.1233-1238, 1987.
DOI : 10.1056/NEJM198705143162002

M. Dotti, A. Federico, E. Signorini, N. Caputo, C. Venturi et al., Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings, Am J Neuroradiol, vol.15, pp.1721-1726, 1994.

E. Benarroch, Brain cholesterol metabolism and neurologic disease, Neurology, vol.71, issue.17, pp.1368-1373, 2008.
DOI : 10.1212/01.wnl.0000333215.93440.36

H. Oftebro, I. Bjö-rkhem, S. Skrede, A. Schreiner, and J. Pederson, Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid., Journal of Clinical Investigation, vol.65, issue.6, pp.1418-1430, 1980.
DOI : 10.1172/JCI109806

A. Bhattacharyya, D. Lin, and W. Connor, Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and tissue deposition, Journal of Lipid Research, vol.202, issue.1, pp.185-192, 2007.
DOI : 10.1111/j.1471-4159.1971.tb11968.x

U. Panzenboeck, U. Andersson, M. Hansson, W. Sattler, S. Meaney et al., On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis, Journal of Lipid Research, vol.835, issue.5, pp.1167-1174, 2007.
DOI : 10.1056/NEJM198412273112601

J. Cali, C. Hsieh, U. Francke, and D. Russell, Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis, J Biol Chem, vol.266, pp.7779-7783, 1991.

V. Meiner, Z. Meiner, A. Reshef, I. Bjorkhem, and E. Leitersdorf, Cerebrotendinous xanthomatosis: Molecular diagnosis enables presymptomatic detection of a treatable disease, Neurology, vol.44, issue.2, pp.288-290, 1994.
DOI : 10.1212/WNL.44.2.288

M. Lee, S. Hazard, J. Carpten, S. Yi, J. Cohen et al., Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees, J Lipid Res, vol.42, pp.159-169, 2001.

P. Clayton, A. Verrips, E. Sistermans, A. Mann, G. Mieli-vergani et al., Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis, Journal of Inherited Metabolic Disease, vol.25, issue.6, pp.501-513, 2002.
DOI : 10.1023/A:1021211520034

S. Bahr, I. Bjö-rkhem, F. Van-'t-hooft, G. Alvelius, and A. Nemeth, Mutation in the Sterol 27-Hydroxylase Gene Associated with Fatal Cholestasis in Infancy, Journal of Pediatric Gastroenterology and Nutrition, vol.40, issue.4, pp.481-486, 2005.
DOI : 10.1097/01.MPG.0000150419.23031.2A

G. Gallus, M. Dotti, and A. Federico, Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene, Neurological Sciences, vol.27, issue.2, pp.143-149, 2006.
DOI : 10.1007/s10072-006-0618-7

A. Federico, M. Dotti, F. Loré, and R. Nuti, Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism, Journal of the Neurological Sciences, vol.115, issue.1, pp.67-70, 1993.
DOI : 10.1016/0022-510X(93)90068-A

M. Dotti, S. Mondillo, K. Plewnia, E. Agricola, and A. Federico, Cerebrotendinous xanthomatosis: evidence of lipomatous hypertrophy of the atrial septum, Journal of Neurology, vol.245, issue.11, pp.723-729, 1998.
DOI : 10.1007/s004150050274

A. Verrips, G. Nijeholt, F. Barkhof, B. Van-engelen, P. Wesseling et al., Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis, Brain, vol.122, issue.8, pp.1589-1595, 1999.
DOI : 10.1093/brain/122.8.1589

A. Verrips, L. Hoefsloot, G. Steenbergen, J. Theelen, R. Wevers et al., Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis, Brain, vol.123, issue.5, pp.908-927, 2000.
DOI : 10.1093/brain/123.5.908

M. Dotti, A. Federico, R. Garuti, and C. S. , Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: Further confirmation of the clinical heterogeneity, Movement Disorders, vol.263, issue.5, pp.1017-1026, 2000.
DOI : 10.1016/0014-5793(90)80172-F

T. Ohno, S. Kobayashi, M. Hayashi, M. Sakurai, and I. Kanazawa, Diphenylpyraline-responsive parkinsonism in cerebrotendinous xanthomatosis: long-term follow up of three patients, Journal of the Neurological Sciences, vol.182, issue.2, pp.95-102, 2001.
DOI : 10.1016/S0022-510X(00)00441-X

G. Salen, T. Meriwether, and G. Nicolau, Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous Xanthomatosis, Biochemical Medicine, vol.14, issue.1, pp.57-74, 1975.
DOI : 10.1016/0006-2944(75)90020-4

V. Berginer, G. Salen, and S. Shefer, Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid, New England Journal of Medicine, vol.311, issue.26, pp.1649-1652, 1984.
DOI : 10.1056/NEJM198412273112601

M. Dotti, D. Lü-tjohann, K. Von-bergmann, and A. Federico, Normalisation of serum cholestanol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDH apheresis, Neurological Sciences, vol.25, issue.4, pp.185-191, 2004.
DOI : 10.1007/s10072-004-0320-6

M. Donaghy, R. King, R. Mckeran, M. Schwartz, and P. Thomas, Cerebrotendinous xanthomatosis: clinical, electrophysiological and nerve biopsy findings, and response to treatment with chenodeoxycholic acid, Journal of Neurology, vol.131, issue.3, pp.216-219, 1990.
DOI : 10.1007/BF00314598

M. Mondelli, A. Rossi, C. Scarpini, M. Dotti, and A. Federico, Evoked Potentials in Cerebrotendinous Xanthomatosis and Effect Induced by Chenodeoxycholic Acid, Archives of Neurology, vol.49, issue.5, pp.469-475, 1992.
DOI : 10.1001/archneur.1992.00530290051011

D. Restuccia, D. Lazzaro, V. Servidei, S. Colosimo, C. Tonali et al., Somatosensory and motor evoked potentials in the assessment of cerebrotendinous xanthomatosis before and after treatment with chenodeoxycholic acid: a preliminary study, Journal of the Neurological Sciences, vol.112, issue.1-2, pp.139-146, 1992.
DOI : 10.1016/0022-510X(92)90143-9

Y. Tokimura, M. Kuriyama, K. Arimura, J. Fujiyama, and M. Osame, Electrophysiological studies in cerebrotendinous xanthomatosis., Journal of Neurology, Neurosurgery & Psychiatry, vol.55, issue.1, pp.52-55, 1992.
DOI : 10.1136/jnnp.55.1.52
URL : http://jnnp.bmj.com/content/jnnp/55/1/52.full.pdf

A. Heijst, A. Verrips, R. Wevers, J. Cruysberg, W. Renier et al., Treatment and follow-up of children with cerebrotendinous xanthomatosis, European Journal of Pediatrics, vol.157, issue.4, pp.313-316, 1998.
DOI : 10.1007/s004310050818

J. Burnett, E. Moses, K. Croft, A. Brown, K. Grainger et al., Clinical and biochemical features, molecular diagnosis and long-term management of a case of cerebrotendinous xanthomatosis, Clinica Chimica Acta, vol.306, issue.1-2, pp.63-69, 2001.
DOI : 10.1016/S0009-8981(01)00391-6

A. Selva-o-'callaghan, I. Bardes, C. Jacas, L. Jubany, C. Lorenzo-bosquet et al., SPECT Imaging for Brain Improvement Quantification in a Patient With Cerebrotendinous Xanthomatosis, Clinical Nuclear Medicine, vol.36, issue.1, pp.38-39, 2011.
DOI : 10.1097/RLU.0b013e3181feed83

V. Berginer, J. Berginer, A. Korczyn, and R. Tadmor, Magnetic resonance imaging in cerebrotendinous xanthomatosis: A prospective clinical and neuroradiological study, Journal of the Neurological Sciences, vol.122, issue.1, pp.102-108, 1994.
DOI : 10.1016/0022-510X(94)90059-0

S. Chakraverty, P. Griffiths, T. Walls, and V. Mcallister, Cerebrotendinous xanthomatosis in two sisters: Case reports and MR imaging, Clinical Radiology, vol.50, issue.2, pp.117-119, 1995.
DOI : 10.1016/S0009-9260(05)82994-0

Q. Chen, W. Liu, B. Jiang, R. Yu, X. Li et al., Fluoxetine-responsive depression in a Chinese cerebrotendinous xanthomatosis, General Hospital Psychiatry, vol.34, issue.5, p.578, 2012.
DOI : 10.1016/j.genhosppsych.2011.10.008

B. Fontaine, D. Seilhean, A. Tourbah, C. Daumas-duport, C. Duyckaerts et al., Dementia in two histologically confirmed cases of multiple sclerosis: one case with isolated dementia and one case associated with psychiatric symptoms., Journal of Neurology, Neurosurgery & Psychiatry, vol.57, issue.3, pp.353-359, 1994.
DOI : 10.1136/jnnp.57.3.353

Y. Fragoso, E. Frota, J. Lopes, J. Noal, M. Giacomo et al., Severe Depression, Suicide Attempts, and Ideation During the Use of Interferon Beta by Patients With Multiple Sclerosis, Clinical Neuropharmacology, vol.33, issue.6, pp.312-316, 2010.
DOI : 10.1097/WNF.0b013e3181f8d513

A. 85-feinstein, J. Vattakatuchery, H. Rickards, and A. Cavanna, Multiple sclerosis and depression Pathogenic mechanisms of depression in multiple sclerosis, Mult Scler J Neuropsychiatry Clin Neurosci, vol.17, issue.23, pp.1276-1281, 2011.

G. Ksel-karatepe, A. Kaya, T. Gü-naydn, R. Demirhan, A. Ce et al., Quality of life in patients with multiple sclerosis, International Journal of Rehabilitation Research, vol.34, issue.4, pp.290-298, 2011.
DOI : 10.1097/MRR.0b013e32834ad479

E. Lauterbach and M. Mendez, Psychopharmacological Neuroprotection in Neurodegenerative Diseases, Part III: Criteria-Based Assessment: A Report of the ANPA Committee on Research, The Journal of Neuropsychiatry and Clinical Neurosciences, vol.23, issue.3, pp.242-260, 2011.
DOI : 10.1176/jnp.23.3.jnp242

A. Aggarwal, D. Sharma, R. Kumar, and R. Sharma, Acute psychosis as the initial presentation of MS: A case report, Int MS J, vol.17, pp.54-57, 2011.

N. Byatt, A. Rothschild, P. Riskind, C. Ionete, and A. Hunt, Relationships Between Multiple Sclerosis and Depression, The Journal of Neuropsychiatry and Clinical Neurosciences, vol.23, issue.2, pp.198-200, 2011.
DOI : 10.1176/jnp.23.2.jnp198

P. Carrieri, S. Montella, and M. Petracca, Psychiatric Onset Of Multiple Sclerosis: Description Of Two Cases, The Journal of Neuropsychiatry and Clinical Neurosciences, vol.23, issue.2, p.6, 2011.
DOI : 10.1176/jnp.23.2.jnpe6

A. Sayao, A. Bueno, V. Devonshire, H. Tremlett, S. Hashimoto et al., The psychosocial and cognitive impact of longstanding ???benign??? multiple sclerosis, Multiple Sclerosis Journal, vol.58, issue.11, pp.1375-1383, 2011.
DOI : 10.1136/jnnp.2010.210732

A. Price, L. Rayner, E. Okon-rocha, A. Evans, K. Valsraj et al., Antidepressants for the treatment of depression in neurological disorders: a systematic review and meta-analysis of randomised controlled trials, Journal of Neurology, Neurosurgery & Psychiatry, vol.82, issue.8, pp.914-923, 2011.
DOI : 10.1136/jnnp.2010.230862

A. Iacovides and E. Andreoulakis, Bipolar disorder and resembling special psychopathological manifestations in multiple sclerosis: a review, Current Opinion in Psychiatry, vol.24, issue.4, pp.336-340, 2011.
DOI : 10.1097/YCO.0b013e328347341d

E. Stenager, B. Jensen, M. Stenager, K. Stenager, and E. Stenager, Suicide attempts in multiple sclerosis, Multiple Sclerosis Journal, vol.51, issue.10, pp.1265-1268, 2011.
DOI : 10.1191/135248506ms1323oa

J. Bruce and S. Lynch, Personality traits in multiple sclerosis: Association with mood and anxiety disorders, Journal of Psychosomatic Research, vol.70, issue.5, pp.479-485, 2011.
DOI : 10.1016/j.jpsychores.2010.12.010

K. Baumstarck-barrau, M. Simeoni, F. Reuter, I. Klemina, V. Aghababian et al., Cognitive function and quality of life in multiple sclerosis patients: a cross-sectional study, BMC Neurology, vol.267, issue.Pt 7, p.17, 2011.
DOI : 10.1016/j.jns.2007.10.002

F. Barwick and P. Arnett, Relationship Between Global Cognitive Decline and Depressive Symptoms in Multiple Sclerosis, The Clinical Neuropsychologist, vol.19, issue.2, pp.193-209, 2011.
DOI : 10.1007/s004150170184

A. Gaskill, F. Foley, J. Kolzet, and M. Picone, Suicidal thinking in multiple sclerosis, Disability and Rehabilitation, vol.1, issue.17-18, pp.1528-1536, 2011.
DOI : 10.1037/0278-6133.18.4.376

B. Goretti, E. Portaccio, A. Ghezzi, S. Lori, L. Moiola et al., Fatigue and its relationships with cognitive functioning and depression in paediatric multiple sclerosis, Multiple Sclerosis Journal, vol.31, issue.3, pp.329-334, 2012.
DOI : 10.1177/1352458509106213

A. Giordano, G. Ferrari, D. Radice, R. G. Bisanti, L. Solari et al., Health-related quality of life and depressive symptoms in significant others of people with multiple sclerosis: a community study, European Journal of Neurology, vol.6, issue.6, pp.847-854, 2012.
DOI : 10.1186/1471-2288-6-5

J. Holmes, E. Ford, F. Yuill, A. Drummond, and N. Lincoln, Attendance at a psychological support group for people with multiple sclerosis and low mood, Disability and Rehabilitation, vol.5, issue.15, pp.1323-1327, 2012.
DOI : 10.1016/j.jmhg.2004.10.009

D. Sisterolli-diniz, O. Ad, D. Paula, R. Rodrigues, and N. Silva, Functional impairments in white matter syndrome of neuropsychiatric systemic lupus erythematosus are similar to those observed in patients with multiple sclerosis, Arquivos de Neuro-Psiquiatria, vol.59, issue.10, pp.769-773, 2012.
DOI : 10.1002/art.24189

R. Curral, R. Correia, R. Lopes, D. Maia, E. Rio et al., Dementia in multiple sclerosis: Report of a case with cortical gray matter involvement and frontotemporal-like clinical features, Psychiatry Research: Neuroimaging, vol.202, issue.2, pp.172-174, 2012.
DOI : 10.1016/j.pscychresns.2011.10.006

R. Moss-morris, L. Dennison, S. Landau, Y. L. Silber, E. Chalder et al., A randomized controlled trial of cognitive behavioral therapy (CBT) for adjusting to multiple sclerosis (the saMS trial): Does CBT work and for whom does it work?, Journal of Consulting and Clinical Psychology, vol.81, issue.2, pp.251-262, 2013.
DOI : 10.1037/a0029132

G. Sar?soy, M. Terzi, . Gü-mü-s¸ks¸k, ?. Pazvantog, and O. Lu, Psychiatric symptoms in patients with multiple sclerosis, General Hospital Psychiatry, vol.35, issue.2, pp.134-140, 2013.
DOI : 10.1016/j.genhosppsych.2012.10.011

N. 107-guernion, L. Cadet, E. Tirel, A. , L. Galudec et al., Neuropsychiatric manifestations in multiple sclerosis (MS): Might psychotic symptoms signal the, Presse Med 2013

N. Zasler, M. Martelli, and H. Jacobs, Neurobehavioral disorders, Handb Clin Neurol, vol.110, pp.377-388, 2013.
DOI : 10.1016/B978-0-444-52901-5.00032-0

C. Filley, White Matter: Organization and Functional Relevance, Neuropsychology Review, vol.132, issue.Suppl 3, pp.158-173, 2010.
DOI : 10.1212/WNL.51.3_Suppl_3.S3

C. Filley, White matter, Neurol Clin Ther Adv Neurol Disord, vol.29, issue.5, pp.81-97, 2011.
DOI : 10.1017/CBO9781139016919.006

C. Filley, Exploring white matter microstructure: new insights from diffusion tensor imaging metabolism: the role of magnetic resonance spectroscopy, Neurology Mol Genet Metab, vol.73, issue.86, pp.1718-1719, 2005.

M. Lejoyeux, G. Dubois, J. Turpin, N. Baumann, O. Lempé-rière-tcaen et al., Arylsulfatase A activity among psychotic patients Cognitive function in adult adrenoleukodystrophy: comparison with leukoaraiosis and multiple sclerosis, Psychiatry Res Dev Neurosci, vol.30, issue.13, pp.107-108, 1989.

L. Shulman, N. David, and W. Weiner, Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C, Neurology, vol.45, issue.9, pp.1739-1743, 1995.
DOI : 10.1212/WNL.45.9.1739

D. Simon, M. Rodriguez, M. Frosch, E. Quackenbush, S. Feske et al., A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease?, Journal of Neurology, Neurosurgery & Psychiatry, vol.65, issue.2, pp.251-254, 1998.
DOI : 10.1136/jnnp.65.2.251

N. Baumann and J. Turpin, Adult-onset leukodystrophies, Journal of Neurology, vol.247, issue.10, pp.751-759, 2000.
DOI : 10.1007/s004150070088

N. Baumann, J. Turpin, M. Lefevre, and B. Colsch, Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships?, Journal of Physiology-Paris, vol.96, issue.3-4, pp.301-306, 2002.
DOI : 10.1016/S0928-4257(02)00019-0

N. Baumann, J. Turpin, M. Lefevre, and B. Colsch, Degenerative neurological diseases of the central nervous system related to genetic neurolipidoses], Bull Acad Natl Med, vol.187, pp.141-151, 2003.

J. Turpin and N. Baumann, Presenting psychiatric and cognitive disorders in adult neurolipidoses], Rev Neurol (Paris), vol.159, pp.637-647, 2003.

F. Sedel, A. Tourbah, N. Baumann, B. Fontaine, P. Aubourg et al., Leucoenc??phalopathies g??n??tiques de l???adulte, Revue Neurologique, vol.161, issue.10, pp.916-931, 2005.
DOI : 10.1016/S0035-3787(05)85155-0

J. Saudubray, F. Sedel, and J. Walter, Clinical approach to treatable inborn metabolic diseases: An introduction, Journal of Inherited Metabolic Disease, vol.77, issue.2-3, pp.261-274, 2006.
DOI : 10.1007/s10545-006-0358-0

M. Walterfang, M. Fietz, M. Fahey, D. Sullivan, P. Leane et al., The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood, The Journal of Neuropsychiatry and Clinical Neurosciences, vol.18, issue.2, pp.158-170, 2006.
DOI : 10.1176/jnp.2006.18.2.158

F. Sedel, J. Turpin, and N. Baumann, Pr??sentations neurologiques des maladies lysosomales chez l???adulte, Revue Neurologique, vol.163, issue.10, pp.919-929, 2007.
DOI : 10.1016/S0035-3787(07)92635-1

F. Sedel, N. Baumann, J. Turpin, O. Lyon-caen, J. Saudubray et al., Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults, Journal of Inherited Metabolic Disease, vol.55, issue.5, pp.631-641, 2007.
DOI : 10.1176/jnp.11.3.315

M. Sé-vin, G. Lesca, N. Baumann, G. Millat, O. Lyon-caen et al., The adult form of Niemann-Pick disease type C, Brain, vol.130, issue.1, pp.120-133, 2007.
DOI : 10.1093/brain/awl260

F. Sedel, O. Lyon-caen, and J. Saudubray, Les maladies m??taboliques h??r??ditaires traitables en neurologie, Revue Neurologique, vol.163, issue.10, pp.884-896, 2007.
DOI : 10.1016/S0035-3787(07)92631-4

F. Sedel, O. Lyon-caen, and J. Saudubray, Therapy Insight: inborn errors of metabolism in adult neurology???a clinical approach focused on treatable diseases, Nature Clinical Practice Neurology, vol.116, issue.5, pp.279-290, 2007.
DOI : 10.1212/01.WNL.0000036616.11962.3C

B. Klarner, H. Klü-nemann, R. Lurding, C. Aslanidis, and R. Rupprecht, 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 : 10.2466/pms.1993.76.3c.1219

B. Lahutte, F. Cornic, O. Bonnot, A. Consoli, I. An-gourfinkel et al., Multidisciplinary approach of organic catatonia in children and adolescents may improve treatment decision making, Progress in Neuro-Psychopharmacology and Biological Psychiatry, vol.32, issue.6, pp.1393-1398, 2008.
DOI : 10.1016/j.pnpbp.2008.02.015

F. Sedel, A. Tourbah, B. Fontaine, C. Lubetzki, N. Baumann et al., Leukoencephalopathies associated with inborn errors of metabolism in adults, Journal of Inherited Metabolic Disease, vol.47, issue.Supplement 2, pp.295-307, 2008.
DOI : 10.1212/WNL.44.2.344

F. Sedel, J. Saudubray, R. E. Agid, Y. Vidailhet, and M. , Movement disorders and inborn errors of metabolism in adults: A diagnostic approach, Journal of Inherited Metabolic Disease, vol.47, issue.Supplement 1, pp.308-318, 2008.
DOI : 10.1212/WNL.33.8.994

D. 139-hannequin, L. Guyant-maréchal, L. Ber, I. Wallon, D. Campion et al., Insanity in the young: diagnostic course], Rev Neurol (Paris), vol.165, pp.2-87, 2009.

J. Wraith and J. Imrie, New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat, Therapeutics and Clinical Risk Management, vol.5, pp.877-887, 2009.
DOI : 10.2147/TCRM.S5777

J. Wraith, N. Guffon, M. Rohrbach, W. Hwu, G. Korenke et al., Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study, Molecular Genetics and Metabolism, vol.98, issue.3, pp.250-254, 2009.
DOI : 10.1016/j.ymgme.2009.06.009

H. Klü-nemann, 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, pp.162-169, 2012.
DOI : 10.1126/scitranslmed.3001417

F. Sedel, Les maladies m??taboliques h??r??ditaires en neurologie adulte, Revue Neurologique, vol.169, pp.63-69, 2013.
DOI : 10.1016/S0035-3787(13)70062-6

G. Enns and W. Packman, The adolescent with an inborn error of metabolism: medical issues and transition to adulthood, Adolesc Med, vol.13, pp.315-329, 2002.

A. Federico and M. Dotti, Cerebrotendinous Xanthomatosis, Journal of Child Neurology, vol.114, issue.9, pp.633-638, 2003.
DOI : 10.1016/0022-510X(93)90303-G
URL : https://hal.archives-ouvertes.fr/hal-00587981

V. Berginer, B. Gross, K. Morad, N. Kfir, S. Morkos et al., Chronic Diarrhea and Juvenile Cataracts: Think Cerebrotendinous Xanthomatosis and Treat, PEDIATRICS, vol.123, issue.1, pp.143-147, 2009.
DOI : 10.1542/peds.2008-0192

J. Cruysberg, R. Wevers, and J. Tolboom, Juvenile Cataract Associated With Chronic Diarrhea in Pediatric Cerebrotendinous Xanthomatosis, American Journal of Ophthalmology, vol.112, issue.5, pp.606-607, 1991.
DOI : 10.1016/S0002-9394(14)76874-6

A. Verrips, B. Van-engelen, R. Wevers, B. Van-geel, J. Cruysberg et al., Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis, Archives of Neurology, vol.57, issue.4, pp.520-524, 2000.
DOI : 10.1001/archneur.57.4.520