Psychiatric manifestations in cerebrotendinous xanthomatosis

M J Fraidakis, M J Fraidakis

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare and severe, but treatable, inborn disorder of bile acid biosynthesis and sterol storage with autosomal recessive inheritance and variable clinical presentation. CTX treatment consists of chenodeoxycholic acid and must be started as early as possible to prevent permanent disability. Psychiatric manifestations are rare and non-specific, and often lead to significant diagnostic and treatment delay. Therefore, better recognition of the gamut of psychiatric manifestations in CTX can diminish the risk of misdiagnosis and irreversible neurological deterioration. We hereby describe the psychiatric features in CTX. A complete review of all published cases of CTX in the medical literature was undertaken and the case reports with psychiatric presentation were collected and analyzed. We also describe the psychiatric features in relation to the neurological semeiology in six patients with CTX diagnosed at the La Salpêtrière Hospital. We conclude that psychiatric manifestations in CTX follow a bimodal/bitemporal pattern, appearing early in the disease course in the form of a behavioral/personality disorder associated with learning difficulties or mental retardation, or manifesting in advanced disease in the setting of dementia as rich neuropsychiatric syndromes, such as frontal, orbitofrontal or frontotemporal syndromes of cortico-subcortical dementia encompassing behavioral/personality disturbance, affective/mood disorders or psychotic disorders. Behavioral/personality disturbance in childhood or adolescence, especially when accompanied by learning difficulties, should therefore lead to further investigation to exclude CTX, as early diagnosis and treatment is critical for prognosis.

Figures

Figure 1
Figure 1
Different psychiatric manifestations related to cerebrotendinous xanthomatosis (CTX) and their frequency distribution. Patients with mood/affective disorders all suffered from depression, except for one patient who suffered from dysthymia. NS: not specified. Behavioral/personality and mood/affective disorders are clearly the predominant psychiatric manifestations in CTX (patients, n=54).
Figure 2
Figure 2
Incidence of disease presentation according to age group. Pure psyciatric and non-psychiatric presentation are plotted as bars of different color for the same age group. Pure psychiatric presentation of cerebrotendinous xanthomatosis (CTX) occurs most often in childhood (childhood:⩽12 years; adolescence: 13 years⩽age⩽18 years; early adulthood: 19 years⩽age⩽26 years; late adulthood: age>26 years (patients, n=34).
Figure 3
Figure 3
Frequency of behavioral/personality disorder in cerebrotendinous xanthomatosis (CTX) patients with pure psychiatric presentation as compared with patients with non-psychiatric presentation of CTX. Behavioral/personality disorder is the most frequent psychiatric manifestation in the group of CTX patients with pure psychiatric presentation (n=9) of CTX, whereas it is as frequent as all the other psychiatric manifestations together in the group of CTX patients with non-psychiatric presentation (n=32) of CTX (patients, n=41).
Figure 4
Figure 4
Distribution of cerebrotendinous xanthomatosis (CTX) patients with psychiatric manifestations according to age group and type of clinical psychopathology (childhood:⩽12 years; adolescence: 13 years⩽age⩽18 years; early adulthood: 19 years⩽age⩽26 years; late adulthood: age>26 years (patients, n=31).

References

    1. Harris WR., Jr Cerebrotendinous xanthomatosis. N Engl J Med. 1968;278:857.
    1. Berginer VM, Salen G, Shefer S. Cerebrotendinous xanthomatosis. Neurol Clin. 1989;7:55–74.
    1. Moghadasian MH, Salen G, Frohlich JJ, Scudamore CH. Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations. Arch Neurol. 2002;59:527–529.
    1. Moghadasian MH. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds. Clin Invest Med. 2004;27:42–50.
    1. Salen G, Shefer S, Berginer V. Biochemical abnormalities in cerebrotendinous xanthomatosis. Dev Neurosci. 1991;13:363–370.
    1. Leitersdorf E, Meiner V. Cerebrotendinous xanthomatosis. Curr Opin Lipidol. 1994;5:138–142.
    1. Mondelli M, Sicurelli F, Scarpini C, Dotti MT, Federico A. Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients. An electrophysiological study. J Neurol Sci. 2001;190:29–33.
    1. Bonnot O, Fraidakis MJ, Lucanto R, Chauvin D, Kelley N, Plaza M, et al. Cerebrotendinous xanthomatosis presenting with severe externalized disorder: improvement after one year of treatment with chenodeoxycholic acid. CNS Spectr. 2010;15:231–236.
    1. Verrips A, Wevers RA, Van Engelen BG, Keyser A, Wolthers BG, Barkhof F, et al. Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis. Metabolism. 1999;48:233–238.
    1. Lorincz MT, Rainier S, Thomas D, Fink JK. Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized. Arch Neurol. 2005;62:1459–1463.
    1. Reshef A, Meiner V, Berginer VM, Leitersdorf E. Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin. J Lipid Res. 1994;35:478–483.
    1. Cruysberg JR. Cerebrotendinous xanthomatosis: juvenile cataract and chronic diarrhea before the onset of neurologic disease. Arch Neurol. 2002;59:527529.
    1. Waterreus RJ, Koopman BJ, Wolthers BG, Oosterhuis HJ. Cerebrotendinous xanthomatosis (CTX): a clinical survey of the patient population in The Netherlands. Clin Neurol Neurosurg. 1987;89:169–175.
    1. Grandas F, Martín-Moro M, Garcia-Muñozguren S, Anaya F. Early-onset parkinsonism in cerebrotendinous xanthomatosis. Mov Disord. 2002;17:13961397.
    1. Gilad R, Lampl Y, Lev D, Sadeh M. Cerebrotendinous xanthomatosis without xanthomas. Clin Genet. 1999;56:405–406.
    1. Fleischmajer R, Tint GS, Bennett HD. Normolipemic tendon and tuberous xanthomas. J Am Acad Dermatol. 1981;5:290–296.
    1. Chen PS, Fleck RP, Calisi CM, Kozina JA, Feld GK. Macroreentrant ventricular tachycardia and coronary artery disease in cerebrotendinous xanthomatosis. Am J Cardiol. 1989;64:680–682.
    1. Kawabata M, Kuriyama M, Mori S, Sakashita I, Osame M. Pulmonary manifestations in cerebrotendinous xanthomatosis. Intern Med. 1998;37:901–902.
    1. Berginer VM, Shany S, Alkalay D, Berginer J, Dekel S, Salen G, et al. Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. Metabolism. 1993;42:1497–1498.
    1. Berginer VM, Foster NL, Sadowsky M, Townsend JA, 3rd, Siegel GJ, Salen G. Psychiatric disorders in patients with cerebrotendinous xanthomatosis. Am J Psychiatry. 1988;145:354–357.
    1. Lee Y, Lin PY, Chiu NM, Chang WN, Wen JK. Cerebrotendinous xanthomatosis with psychiatric disorders: report of three siblings and literature review. Chang Gung Med J. 2002;25:334–340.
    1. Price Evans DA, Salah KA, Mobrad MA, Mitchell WD, Olin M, Eggertsen G. Cerebrotendinous xanthomatosis in a Saudi Arabian family-genotyping and long-term follow-up. Saudi Med J. 2007;28:1113–1118.
    1. Philippart M, Van Bogaert L. Cholestanolosis (cerebrotendinous xanthomatosis). A follow-up study on the original family. Arch Neurol. 1969;21:603–610.
    1. Shapiro S. Depression in a patient with dementia secondary to cerebrotendinous xanthomatosis. J Nerv Ment Dis. 1983;171:568–571.
    1. Burnstein M, Buckwalter KA, Martel W, McClatchey KD, Quint D. Case report: Cerebrotendinous xanthomatosis. Skeletal Radiol. 1987;16:346–349.
    1. Laurent A, Dairou F, Luc G, Truffert J, Lapresle J, de Gennes JL.[Van Bogaert's cerebrotendinous xanthomatosis. A study of 3 cases] Ann Med Interne (Paris) 1988139395–402.(in French).
    1. Wevers RA, Cruysberg JR, Van Heijst AF, Janssen-Zijlstra FS, Renier WO, Van Engelen BG, et al. Paediatric cerebrotendinous xanthomatosis. J Inherit Metab Dis. 1992;15:374–376.
    1. Soffer D, Benharroch D, Berginer V. The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literature. Acta Neuropathol. 1995;90:213–220.
    1. Verrips A, Steenbergen-Spanjers GC, Luyten JA, van den Heuvel LP, Keyser A, Gabreëls FJ, et al. Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis. Hum Genet. 1996;98:735–737.
    1. Sperhake JP, Matschke J, Orth U, Gal A, Püschel K. Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis. Int J Legal Med. 2000;113:110–113.
    1. Sugama S, Kimura A, Chen W, Kubota S, Seyama Y, Taira N, et al. Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene (CYP27) J Inherit Metab Dis. 2001;24:379–392.
    1. Dotti MT, Rufa A, Federico A. Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings. J Inherit Metab Dis. 2001;24:696–706.
    1. Bartholdi D, Zumsteg D, Verrips A, Wevers RA, Sistermans E, Hess K, et al. Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis. J Neurol. 2004;251:105–107.
    1. Guyant-Marechal L, Verrips A, Girard C, Wevers RA, Zijlstra F, Sistermans E, et al. Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. Am J Med Genet A. 2005;139:114–117.
    1. Siman-Tov T, Meiner V, Gadoth N. Could steroids mask the diagnosis of cerebrotendinous xanthomatosis. J Neurol Sci. 2006;243:83–86.
    1. Gonzalez-Cuyar LF, Hunter B, Harris PL, Perry G, Smith MA, Castellani RJ. Cerebrotendinous xanthomatosis: case report with evidence of oxidative stress. Redox Rep. 2007;12:119–124.
    1. Pilo de la Fuente B, Ruiz I, Lopez de Munain A, Jimenez-Escrig A. Cerebrotendinous xanthomatosis: neuropathological findings. J Neurol. 2008;255:839–842.
    1. Szlago M, Gallus GN, Schenone A, Patiño ME, Sfaelo Z, Rufa A, et al. The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. Neurology. 2008;70:402–404.
    1. Zacherl M, Sourij H, Beham A, Emberger W, Leithner A, Windhager W.[Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon] Orthopade 200837704–708.(in German).
    1. Filippi J, Irarrázaval S, Peredo P, Mellado P.[Cerebrotendinous xanthomatosis: report of one case] Rev Med Chil 2009137815–820.(in Spanish).
    1. Chang CC, Lui CC, Wang JJ, Huang SH, Lu CH, Chen C, et al. Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations. BMC Neurol. 2010;10:59.
    1. Pilo de la Fuente B, Sobrido MJ, Girós M, Pozo L, Lustres M, Barrero F, et al. [Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis] Neurologia 2011a26397–404.(in Spanish).
    1. Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, et al. Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. Eur J Neurol. 2011b;18:1203–1211.
    1. Barkhof F, Verrips A, Wesseling P, van Der Knaap MS, van Engelen BG, Gabreels FJ, et al. Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology. 2000;217:869–876.
    1. Vanrietvelde F, Lemmerling M, Mespreuve M, Crevits L, De Reuck J, Kunnen M. MRI of the brain in cerebrotendinous xanthomatosis. Eur Radiol. 2000;10:576–578.
    1. De Stefano N, Dotti MT, Mortilla M, Federico A. Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain. 2001;124:121–131.
    1. van Bogaert L, Scherer HJ, Epstein EA. Cerebral Form of Generalized Cholesterinose [in French] Masson et Cie: Paris, France; 1937.
    1. van Bogaert L, Scherer HJ, Froelich A, Epstein E. Une deuxieme observation de cholesterinose tendineuse symetrique avec symptomes cerebraux. Ann Med. 1937;42:69.
    1. Dubois B, Slachevsky A, Litvan I, Pillon B. The FAB: a Frontal Assessment Battery at bedside. Neurology. 2000;55:1621–1626.
    1. Slachevsky A, Villalpando JM, Sarazin M, Hahn-Barma V, Pillon B, Dubois B. Frontal assessment battery and differential diagnosis of frontotemporal dementia and Alzheimer disease. Arch Neurol. 2004;61:1104–1107.
    1. Menkes JH, Schimschock JR, Swanson PD. Cerebrotendinous xanthomatosis: the storage of cholestanol within the nervous system. Arch Neurol. 1968;19:47–53.
    1. Salen G, Berginer V, Shore V, Horak I, Horak E, Tint GS, et al. Increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid of patients with cerebrotendinous xanthomatosis: effect of chenodeoxycholic acid. N Engl J Med. 1987;316:1233–1238.
    1. Dotti MT, Federico A, Signorini E, Caputo N, Venturi C, Filosomi G, et al. Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings. Am J Neuroradiol. 1994;15:1721–1726.
    1. Benarroch EE. Brain cholesterol metabolism and neurologic disease. Neurology. 2008;71:1368–1373.
    1. Oftebro H, Björkhem I, Skrede S, Schreiner A, Pederson JI. Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid. J Clin Invest. 1980;65:1418–1430.
    1. Bhattacharyya AK, Lin DS, Connor WE. Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and tissue deposition. J Lipid Res. 2007;48:185–192.
    1. Panzenboeck U, Andersson U, Hansson M, Sattler W, Meaney S, Bjorkhem I. On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis. J Lipid Res. 2007;48:1167–1174.
    1. Cali JJ, Hsieh CL, Francke U, Russell DW. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem. 1991;266:7779–7783.
    1. Meiner V, Meiner Z, Reshef A, Bjorkhem I, Leitersdorf E. Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease. Neurology. 1994;44:288–290.
    1. Lee MH, Hazard S, Carpten JD, Yi S, Cohen J, Gerhardt GT, et al. Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees. J Lipid Res. 2001;42:159–169.
    1. Clayton PT, Verrips A, Sistermans E, Mann A, Mieli-Vergani G, Wevers R. Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2002;25:501–513.
    1. Von Bahr S, Björkhem I, Van't Hooft F, Alvelius G, Nemeth A, Sjövall J, et al. Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancy. J Pediatr Gastroenterol Nutr. 2005;40:481–486.
    1. Gallus GN, Dotti MT, Federico A. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci. 2006;27:143–149.
    1. Federico A, Dotti MT, Loré F, Nuti R. Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism. J Neurol Sci. 1993;115:67–70.
    1. Dotti MT, Mondillo S, Plewnia K, Agricola E, Federico A. Cerebrotendinous xanthomatosis: evidence of lipomatous hypertrophy of the atrial septum. J Neurol. 1998;245:723–6.
    1. Verrips A, Nijeholt GJ, Barkhof F, Van Engelen BG, Wesseling P, Luyten JA, et al. Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis. Brain. 1999;122:1589–1595.
    1. Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreëls FJ, et al. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain. 2000;123:908–19.
    1. Dotti MT, Federico A, Garuti R, Calandra S. Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity. Mov Disord. 2000;15:1017–9.
    1. Ohno T, Kobayashi S, Hayashi M, Sakurai M, Kanazawa I. Diphenylpyraline-responsive parkinsonism in cerebrotendinous xanthomatosis: long-term follow up of three patients. J Neurol Sci. 2001;182:95–7.
    1. Salen G, Meriwether TW, Nicolau G. Chenodesoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis. Biochem Med. 1975;14:57–74.
    1. Berginer VM, Salen G, Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med. 1984;311:1649–1652.
    1. Dotti MT, Lütjohann D, von Bergmann K, Federico A. Normalisation of serum cholestanol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDL apheresis. Neurol Sci. 2004;25:185–191.
    1. Donaghy M, King RH, McKeran RO, Schwartz MS, Thomas PK. Cerebrotendinous xanthomatosis: clinical, electrophysiological and nerve biopsy findings, and response to treatment with chenodeoxycholic acid. J Neurol. 1990;237:216–219.
    1. Mondelli M, Rossi A, Scarpini C, Dotti MT, Federico A. Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid. Arch Neurol. 1992;49:469–475.
    1. Restuccia D, Di Lazzaro V, Servidei S, Colosimo C, Tonali P. Somatosensory and motor evoked potentials in the assessment of cerebrotendinous xanthomatosis before and after treatment with chenodeoxycholic acid: a preliminary study. J Neurol Sci. 1992;112:139–146.
    1. Tokimura Y, Kuriyama M, Arimura K, Fujiyama J, Osame M. Electrophysiological studies in cerebrotendinous xanthomatosis. J Neurol Neurosurg Psychiatry. 1992;55:52–55.
    1. Van Heijst AF, Verrips A, Wevers RA, Cruysberg JR, Renier WO, Tolboom JJ. Treatment and follow-up of children with cerebrotendinous xanthomatosis. Eur J Pediatr. 1998;157:313–316.
    1. Burnett JR, Moses EA, Croft KD, Brown AJ, Grainger K, Vasikaran SD, et al. Clinical and biochemical features, molecular diagnosis and long-term management of a case of cerebrotendinous xanthomatosis. Clin Chim Acta. 2001;306:63–69.
    1. Selva-O'Callaghan A, Bardes I, Jacas C, Jubany L, Lorenzo-Bosquet C, Cuberas-Borrós G, et al. SPECT imaging for brain improvement quantification in a patient with cerebrotendinous xanthomatosis. Clin Nucl Med. 2011;36:38–39.
    1. Berginer VM, Berginer J, Korczyn AD, Tadmor R. Magnetic resonance imaging in cerebrotendinous xanthomatosis: a prospective clinical and neuroradiological study. J Neurol Sci. 1994;122:102–108.
    1. Chakraverty S, Griffiths PD, Walls TJ, McAllister VL. Cerebrotendinous xanthomatosis in two sisters: case reports and MR imaging. Clin Radiol. 1995;50:117–119.
    1. Chen Q, Liu W, Jiang B, Yu R, Li X, Li H. Fluoxetine-responsive depression in a Chinese cerebrotendinous xanthomatosis. Gen Hosp Psychiatry. 2012;34:578.
    1. Fontaine B, Seilhean D, Tourbah A, Daumas-Duport C, Duyckaerts C, Benoit N, et al. Dementia in two histologically confirmed cases of multiple sclerosis: one case with isolated dementia and one case associated with psychiatric symptoms. J Neurol Neurosurg Psychiatry. 1994;57:353–359.
    1. Fragoso YD, Frota ER, Lopes JS, Noal JS, Giacomo MC, Gomes S, et al. Severe depression, suicide attempts, and ideation during the use of interferon beta by patients with multiple sclerosis. Clin Neuropharmacol. 2010;33:312–316.
    1. Feinstein A. Multiple sclerosis and depression. Mult Scler. 2011;17:1276–1281.
    1. Vattakatuchery JJ, Rickards H, Cavanna AE. Pathogenic mechanisms of depression in multiple sclerosis. J Neuropsychiatry Clin Neurosci. 2011;23:261–276.
    1. Göksel Karatepe A, Kaya T, Günaydn R, Demirhan A, Ce P, Gedizlioğlu M. Quality of life in patients with multiple sclerosis: the impact of depression, fatigue, and disability. Int J Rehabil Res. 2011;34:290–298.
    1. Lauterbach EC, Mendez MF. Psychopharmacological neuroprotection in neurodegenerative diseases, part III: criteria-based assessment: a report of the ANPA committee on research. J Neuropsychiatry Clin Neurosci. 2011;23:242–260.
    1. Aggarwal A, Sharma D, Kumar R, Sharma R. Acute psychosis as the initial presentation of MS: A case report. Int MS J. 2011;17:54–57.
    1. Byatt N, Rothschild AJ, Riskind P, Ionete C, Hunt AT. Relationships between multiple sclerosis and depression. J Neuropsychiatry Clin Neurosci. 2011;23:198–200.
    1. Carrieri PB, Montella S, Petracca M. Psychiatric onset of multiple sclerosis: description of two cases. J Neuropsychiatry Clin Neurosci. 2011;23:E6.
    1. Sayao AL, Bueno AM, Devonshire V, Tremlett H, Hashimoto S, Oger J, et al. The psychosocial and cognitive impact of longstanding 'benign' multiple sclerosis. Mult Scler. 2011;17:1375–1383.
    1. Price A, Rayner L, Okon-Rocha E, Evans A, Valsraj K, Higginson IJ, et al. Antidepressants for the treatment of depression in neurological disorders: a systematic review and meta-analysis of randomised controlled trials. J Neurol Neurosurg Psychiatry. 2011;82:914–923.
    1. Iacovides A, Andreoulakis E. Bipolar disorder and resembling special psychopathological manifestations in multiple sclerosis: a review. Curr Opin Psychiatry. 2011;24:336–340.
    1. Stenager EN, Jensen B, Stenager M, Stenager K, Stenager E. Suicide attempts in multiple sclerosis. Mult Scler. 2011;17:1265–1268.
    1. Bruce JM, Lynch SG. Personality traits in multiple sclerosis: association with mood and anxiety disorders. J Psychosom Res. 2011;70:479–485.
    1. Baumstarck-Barrau K, Simeoni MC, Reuter F, Klemina I, Aghababian V, Pelletier J, et al. Cognitive function and quality of life in multiple sclerosis patients: a cross-sectional study. BMC Neurol. 2011;11:17.
    1. Barwick FH, Arnett PA. Relationship between global cognitive decline and depressive symptoms in multiple sclerosis. Clin Neuropsychol. 2011;25:193–209.
    1. Gaskill A, Foley FW, Kolzet J, Picone MA. Suicidal thinking in multiple sclerosis. Disabil Rehabil. 2011;33:1528–1536.
    1. Goretti B, Portaccio E, Ghezzi A, Lori S, Moiola L, Falautano M, et al. Multiple Sclerosis Study Group of the Italian Neurological Society. Fatigue and its relationships with cognitive functioning and depression in paediatric multiple sclerosis. Mult Scler. 2012;18:329–334.
    1. Giordano A, Ferrari G, Radice D, Randi G, Bisanti L, Solari A. POSMOS study. Health-related quality of life and depressive symptoms in significant others of people with multiple sclerosis: a community study. Eur J Neurol. 2012;19:847–854.
    1. Holmes JM, Ford E, Yuill F, Drummond AE, Lincoln NB. Attendance at a psychological support group for people with multiple sclerosis and low mood. Disabil Rehabil. 2012;34:1323–1327.
    1. Sisterolli-Diniz D, Oliveira Ad, Paula DS, Rodrigues RV, Silva NA. Functional impairments in white matter syndrome of neuropsychiatric systemic lupus erythematosus are similar to those observed in patients with multiple sclerosis. Arq Neuropsiquiatr. 2012;70:769–773.
    1. Curral R, Correia R, Lopes R, Maia D, Rio E, Bastos-Leite AJ. Dementia in multiple sclerosis: report of a case with cortical gray matter involvement and frontotemporal-like clinical features. Psychiatry Res. 2012;202:172–174.
    1. Moss-Morris R, Dennison L, Landau S, Yardley L, Silber E, Chalder T. 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. J Consult Clin Psychol. 2013;81:251–262.
    1. Sarısoy G, Terzi M, Gümüş K, Pazvantoğlu O. Psychiatric symptoms in patients with multiple sclerosis. Gen Hosp Psychiatry. 2013;35:134–140.
    1. Guernion N, Le Cadet E, Tirel A, Le Galudec M, Edan G, Walter M.[Neuropsychiatric manifestations in multiple sclerosis (MS): Might psychotic symptoms signal the onset of the disease?] Presse Med 2013(in French).
    1. Zasler ND, Martelli MF, Jacobs HE. Neurobehavioral disorders. Handb Clin Neurol. 2013;110:377–388.
    1. Filley CM. The frontal lobes. Handb Clin Neurol. 2010;95:557–570.
    1. Filley CM. White matter: organization and functional relevance. Neuropsychol Rev. 2010;20:158–173.
    1. Filley CM. White matter: beyond focal disconnection. Neurol Clin. 2011;29:81–97.
    1. Filley CM. White matter dementia. Ther Adv Neurol Disord. 2012;5:267–277.
    1. Filley CM. Exploring white matter microstructure: new insights from diffusion tensor imaging. Neurology. 2009;73:1718–1719.
    1. Gropman AL. Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy. Mol Genet Metab. 2005;86:2–9.
    1. Lejoyeux M, Dubois G, Turpin JC, Baumann N, Lempérière T. Arylsulfatase A activity among psychotic patients. Psychiatry Res. 1989;1989;30:107–108.
    1. Lyon-Caen O, Benoit N, Carreau V, Montreuil M, Menage P, Lubetzki C, et al. Cognitive function in adult adrenoleukodystrophy: comparison with leukoaraiosis and multiple sclerosis. Dev Neurosci. 1991;13:251–253.
    1. Shulman LM, David NJ, Weiner WJ. Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C. Neurology. 1995;45:1739–1743.
    1. Simon DK, Rodriguez ML, Frosch MP, Quackenbush EJ, Feske SK, Natowicz MR. A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease. J Neurol Neurosurg Psychiatry. 1998;65:251–254.
    1. Baumann N, Turpin JC. Adult-onset leukodystrophies. J Neurol. 2000;247:751–759.
    1. Baumann N, Turpin JC, Lefevre M, Colsch B. Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships. J Physiol (Paris) 2002;96:301–306.
    1. Baumann N, Turpin JC, Lefevre M, Colsch B.[Degenerative neurological diseases of the central nervous system related to genetic neurolipidoses] Bull Acad Natl Med 2003187141–151.(in French).
    1. Turpin JC, Baumann N.[Presenting psychiatric and cognitive disorders in adult neurolipidoses] Rev Neurol (Paris) 2003159637–647.(in French).
    1. Sedel F, Tourbah A, Baumann N, Fontaine B, Aubourg P, Lubetzki C, et al. [Adult onset hereditary leukoencephalopathies] Rev Neurol (Paris) 2005161916–931.(in French).
    1. Saudubray JM, Sedel F, Walter JH. Clinical approach to treatable inborn metabolic diseases: an introduction. J Inherit Metab Dis. 2006;29:261–274.
    1. Walterfang M, Fietz M, Fahey M, Sullivan D, Leane P, Lubman DI, et al. The neuropsychiatry of Niemann-Pick type C disease in adulthood. J Neuropsychiatry Clin Neurosci. 2006;18:158–170.
    1. Sedel F, Turpin JC, Baumann N.[Neurological presentations of lysosomal diseases in adult patients] Rev Neurol (Paris) 2007163919–929.(in French).
    1. Sedel F, Baumann N, Turpin JC, Lyon-Caen O, Saudubray JM, Cohen D. Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. J Inherit Metab Dis. 2007;30:631–641.
    1. Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, et al. The adult form of Niemann-Pick disease type C. Brain. 2007;130:120–133.
    1. Sedel F, Turpin JC, Baumann N. [Neurological presentations of lysosomal diseases in adult patients] Rev Neurol (Paris) 2007;163:919–929.
    1. Sedel F, Lyon-Caen O, Saudubray JM.[Treatable hereditary neurometabolic diseases] Rev Neurol (Paris) 2007163884–896.(in French).
    1. Sedel F, Baumann N, Turpin JC, Lyon-Caen O, Saudubray JM, Cohen D. Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. J Inherit Metab Dis. 2007;30:631–641.
    1. Sedel F, Lyon-Caen O, Saudubray JM. Therapy insight: inborn errors of metabolism in adult neurology-a clinical approach focused on treatable diseases. Nat Clin Pract Neurol. 2007;3:279–290.
    1. Klarner B, Klünemann HH, Lurding R, Aslanidis C, Rupprecht R. Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations. J Inherit Metab Dis. 2007;30:60–67.
    1. Lahutte B, Cornic F, Bonnot O, Consoli A, An-Gourfinkel I, Amoura Z, et al. Multidisciplinary approach of organic catatonia in children and adolescents may improve treatment decision making. Prog Neuropsychopharmacol Biol Psychiatry. 2008;32:1393–1398.
    1. Sedel F, Tourbah A, Fontaine B, Lubetzki C, Baumann N, Saudubray JM, et al. Leukoencephalopathies associated with inborn errors of metabolism in adults. J Inherit Metab Dis. 2008;31:295–307.
    1. Sedel F, Tourbah A, Fontaine B, Lubetzki C, Baumann N, Saudubray JM, et al. Leukoencephalopathies associated with inborn errors of metabolism in adults. J Inherit Metab Dis. 2008;31:295–307.
    1. Sedel F, Saudubray JM, Roze E, Agid Y, Vidailhet M. Movement disorders and inborn errors of metabolism in adults: a diagnostic approach. J Inherit Metab Dis. 2008;31:308–318.
    1. Sedel F, Saudubray JM, Roze E, Agid Y, Vidailhet M. Movement disorders and inborn errors of metabolism in adults: a diagnostic approach. J Inherit Metab Dis. 2008;31:308–318.
    1. Hannequin D, Guyant-Maréchal L, Le Ber I, Wallon D, Campion D, Sedel F.[Insanity in the young: diagnostic course] Rev Neurol (Paris) 2009165Spec No 2F87–F96.(in French).
    1. Wraith JE, Imrie J. New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat. Ther Clin Risk Manag. 2009;5:877–887.
    1. Wraith JE, Guffon N, Rohrbach M, Hwu WL, Korenke GC, Bembi B, et al. Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study. Mol Genet Metab. 2009;98:250–254.
    1. Klünemann HH, Santosh PJ, Sedel F. Treatable metabolic psychoses that go undetected: what Niemann-Pick type C can teach us. Int J Psychiatry Clin Pract. 2012;16:162–169.
    1. Sedel F.[Inborn errors of metabolism in adult neurology] Rev Neurol (Paris) 2013169(Suppl 1S63–S69.(in French).
    1. Enns GM, Packman W. The adolescent with an inborn error of metabolism: medical issues and transition to adulthood. Adolesc Med. 2002;13:315–329.
    1. Federico A, Dotti MT. Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy. J Child Neurol. 2003;18:633–638.
    1. Berginer VM, Gross B, Morad K, Kfir N, Morkos S, Aaref S, et al. Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat. Pediatrics. 2009;123:143–147.
    1. Cruysberg JR, Wevers RA, Tolboom JJ. Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. Am J Ophthalmol. 1991;112:606–607.
    1. Verrips A, van Engelen BG, Wevers RA, van Geel BM, Cruysberg JR, van den Heuvel LP, et al. Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis. Arch Neurol. 2000;57:520–524.

Source: PubMed

Patrocinadores e Colaboradores

Condições médicas

Intervenções de drogas

3
Se inscrever