Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 81, Issue 11, 2010, Pages 1189-1193

  Guerrera, S ^a,b   Stromillo, M L ^a   Mignarri, A ^a   Battaglini, M ^a   Marino, S ^b   Di Perri, C ^a   Federico, A ^a   Dotti, M T ^a   De Stefano, N ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b IRCCS CENTRO NEUROLESI BONINO PULEJO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRAIN FUNCTION; BRAIN SIZE; CEREBELLUM; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL ARTICLE; CORRELATION ANALYSIS; DISEASE COURSE; FEMALE; HUMAN; MALE; MENTAL PERFORMANCE; MINI MENTAL STATE EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PRIORITY JOURNAL; RATING SCALE; WHITE MATTER;

ADOLESCENT; ADULT; ATROPHY; CEREBELLUM; CEREBRAL CORTEX; FEMALE; FOLLOW-UP STUDIES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NERVE FIBERS, MYELINATED; NEURONS; NEUROPSYCHOLOGICAL TESTS; XANTHOMATOSIS, CEREBROTENDINOUS; YOUNG ADULT;

EID: 78649587875     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2009.203364     Document Type: Article

References (28)

1. Bjorkhem I, Skrede S. Familial diseases with storage of sterols other than cholesterol: cerebrotendinous xanthomatosis and phytosterolemia. In: Schriver CR, Beaudet AL, Sly WS, et al, eds. The metabolic basis of inherited disease. 6th edn. New York: McGraw Hill, 1989:1283-302.
2. Bjorkhem I, Boberg KM. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. In: Scriver CR, Beaudet AL, Sly WS Valle D, eds. The metabolic and molecular bases of inherited disease. 7th edn. New York: McGraw Hill, 1995:2073-99.
3. Dotti MT, Manneschi L, Federico A. Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis. J Neurol Sci 1995;129:106-8.
4. Salen G, Shefer S, Berginer V. Biochemical abnormalities in cerebrotendinous xanthomatosis. Dev Neurosci 1991;13:363-70.
5. De Stefano N, Dotti MT, Mortilla M, et al. Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain 2001;124:121-31.
6. Federico A, Dotti MT. Cerebrotendinous xanthomatosis. In: Vinken PJ, Bruyn GW, Moser HW, eds. Handbook of clinical neurology, vol 66. Amsterdam: Elsevier Science, 1996:599-613.
7. Verrips A, Hoefsloot LH, Steenbergen GC, et al. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain 2000;123:908-19. (Pubitemid 30224187)
8. Wolthers BG, Volmer M, van der Molen J, et al. Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography. Clin Chim Acta 1983;131:52-65.
9. Berginer VM, Salen G, Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 1984;311:1649-52.
10. Valk J, van der Knaap MS. Selective vulnerability in toxic encephalopaties and metabolic disorders. Riv Neuroradiol 1996;9:749-60. (Pubitemid 27088963)
11. Barkhof F, Verrips MD, Wesseling P, et al. Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology 2000;217:869-76.
12. Berginer VM, Berginer J, Korczyn AD, et al. Magnetic resonance imaging in cerebrotendinous xanthomatosis: a prospective clinical and neuroradiological study. J Neurol Sci 1994;122:102-8.
13. Smith SM, Jenkinson M, Woolrich MW, et al. Advances in functional and structural MR image analysis and implementation as FSL. Neuroimage 2004;23:208-19.
14. Smith SM, Zhang Y, Jenkinson M, et al. Accurate, robust and automated longitudinal and cross-sectional brain change analysis. NeuroImage 2002;17:479-89.
15. Fox NC, Warrington EK, Rossor MN. Serial magnetic resonance imaging of cerebral atrophy in preclinical Alzheimer's disease. Lancet 1999;353:2125.
16. Giorgio A, Dotti MT, Battaglini M, et al. Cortical damage in brains of patients with adult-form of myotonic dystrophy type1 and no or minimal MRI abnormalities. J Neurol 2006;253:1471-7. (Pubitemid 44950281)
17. Stromillo ML, Dotti MT, Battaglini M, et al. Structural and metabolic brain abnormalities in preclinical cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy. J Neurol Neurosurg Psychiatry 2009;80:41-7.
18. Mitsumoto H, Ulug AM, Pullman SL, et al. Quantitative objective markers for upper and lower motor neuron dysfunction in ALS. Neurology 2007;68:1402-10.
19. Filippi M. In vivo tissue characterization of multiple sclerosis and other white matter diseases using magnetic resonance based techniques. J Neurol 2001;248:1019-29.
20. Bonita R, Beaglehole R. Modification of Rankin Scale: recovery of motor function after stroke. Stroke 1988;19:1497-500.
21. Kurtzke JF. Rating neurologic impairment in multiple sclerosis: an expanded disability status scale (EDSS). Neurology 1983;33:1444-52.
22. Cockrell JR, Folstein MF. Mini-Mental State Examination (MMSE) psychopharmacol. Psychopharmacol Bull 1988;24:689-92.
23. Soffer D, Benharroch D, Berginer V. The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literature. Acta Neuropathol 1995;90:213-20.
24. Pilo de la Fuente B, Ruiz I, Lopez de Munain A, et al. Cerebrotendinous xanthomatosis: neuropathological findings. J Neurol 2008;255:839-42.
25. Inglese M, De Stefano N, Pagani E, et al. Quantification of brain damage in cerebrotendinous xanthomatosis with magnetization transfer MR imaging. AJNR Am J Neuroradiol 2003;24:495-500. (Pubitemid 36359005)
26. Dotti MT, Federico A, Signorini E, et al. Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings. AJNR Am J Neuroradiol 1994;15:1721-6.
27. Giorgio A, Battaglini M, Smith SM, et al. Brain atrophy assessment in multiple sclerosis: importance and limitations. Neuroimaging Clin N Am 2008;18:675-86.
28. Peters N, Holtmannspötter M, Opherk C, et al. Brain volume changes in CADASIL: a serial MRI study in pure subcortical ischemic vascular disease. Neurology 2006;66:1517-22.