Сerebrotendinous xanthomatosis

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Abstract

Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder of cholesterol and bile acid metabolism associated with the sterol 27-hydroxylase gene CYP27A1. The disease is characterized by a varying age of the onset, progressive course, and wide range of the neurological and extraneural symptoms. MRI of the brain plays an important diagnostic role. Measurement of the serum cholestanol level and DNA analysis are verification methods. Timely started chenodeoxycholic acid replacement therapy enables slowing down the disease progression and, in some cases, preventing neurological disability.

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About the authors

Galina E. Rudenskaya

Research Centre for Medical Genetics, Moscow

Email: rudenskaya@med-gen.ru
Россия, Moscow

Ekaterina Yu. Zakharova

Research Centre for Medical Genetics

Author for correspondence.
Email: rudenskaya@med-gen.ru
Россия, Moscow

References

  1. Бергинер В.М. Ксантоматоз мозга и сухожилий. Журн. неврол.психиатр. им. С.С. Корсакова. 1992; 4: 13–22.
  2. Иллариошкин С.Н., Иванова-Смоленская И.А. Дрожательные гиперкинезы. Руководство для врачей. М.: Атмосфера, 2011.
  3. Androdias G., Vukusic S., Gignoux L. et al. Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis. J. Neurol. 2012; 259:364–366.
  4. Bartholdi D., Zumsteg D., Verrips A. et al. Spinal phenotype of cerebrotendinous xanthomatosis – a pitfall in the diagnosis of multiple sclerosis. J. Neurol. 2004; 251: 105–107.
  5. Berginer V., Gross B., Morad K. et al. Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat. Pediatrics. 2009; 123: 143–147.
  6. Bjorkhem I. Cerebrotendinous xanthomatosis. Curr. Opin. Lipidol.2013, 24: 283–287.
  7. Bjorkhem I., Hansson M. Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge. Biochem. Biophys. Res. Commun. 2010; 396: 46–49.
  8. Bonnot O., Fraidakis M., Lucanto R. et al. Cerebrotendinous xanthomatosis presenting with severe externalized disorder: improvement after one year of treatment with chenodeoxycholic Acid. CNS Spectr. 2010; 15: 231–236.
  9. Brienza M, Fiermonte G, Cambieri C et al. Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis. J. Inherit. Metab. Dis. 2015 Jan 8 [Epub ahead of print]
  10. Cali J., Hsieh C., Francke U., Russell D. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J. Biol. Chem. 1991; 266: 7779–7783.
  11. Caroppo P., D’Agata F., Mignarri A. et al. Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. Neurol. Sci. 2013; 34: 1693–1696.
  12. Chang C., Lui C., Wang J. et al. Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations. BMC Neurol. 2010; 10: 59.
  13. Chen Q., Liu W., Jiang B. et al. Fluoxetine-responsive depression in a Chinese cerebrotendinous xanthomatosis. Gen. Hosp. Psychiatry 2012; 34: e571–e574.
  14. Chen S., Chang C., Huang S. et al. 99mTc-sestamibi thigh SPECT/CT imaging for assessment of myopathy in cerebrotendinous xanthomatosis with histopathological and immunohistochemical correlation. Clin. Nucl. Med. 2014; 39: e202–e207.
  15. Chen S., Tsai N., Chang C. et al. Neuromuscular abnormality and autonomic
  16. dysfunction in patients with cerebrotendinous xanthomatosis.BMC Neurol. 2011; 11: 63.
  17. DeBarber A., Luo J., Giugliani R. et al. A useful multi-analyte blood test for cerebrotendinous xanthomatosis. Clin. Biochem. 2014; 47: 860–863.
  18. Diekstra F., Saris C., van Rheenen W. et al. Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. PLoS One 2012; 7: e35333.
  19. Dotti M., Rufa A., Federico A. Cerebrotendinous xanthomatosis; heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological features. J. Inherit. Metab. Dis. 2001; 24: 696–706.
  20. Escolà-Gil J., Quesada H., Julve J. et al. Sitosterolemia: diagnosis, investigation, and management. Curr. Atheroscler. Rep. 2014; 16: 424.
  21. Federico A., Dotti M., Gallus G. Cerebrotendinous xanthomatosis. GeneReviews.https://www.ncbi.nlm.nih.gov/books/NBK1409/ Updated August 2013.
  22. Fraidakis M. Psychiatric manifestations in cerebrotendinous xanthomatosis. Translat. Psychiatry. 2013; 3: e302.
  23. Gallus G., Dotti M., Mignarri A. et al. Four novel CYP27A1 mutations in seven Italian patients with CTX. Eur. J. Neurol. 2010; 17: 1259–1262.
  24. Gallus G., Dotti M., 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.
  25. Ginanneschi F., Mignarri A., Mondelli M. et al. Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. J. Neurol. 2013; 60: 268–274.
  26. Grandas F., Martin-Moro M., Garcia-Munozguren S., Anaya F. Early-onset parkinsonism in cerebrotendinous xanthomatosis. Mov. Disord. 2002; 17: 1396–1397.
  27. Guerrera S., Stromillo M., Mignarri A. et al. Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis. J. Neurol. Neurosurg. Psychiatry. 2010; 81: 1189–1193.
  28. Guyant-Marechal L., Verrips A., Girard C. et al. Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. Am. J. Med. Genet. A. 2005; 139A: 114–117.
  29. Hansson M., Olin M., Floren C. et al. Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase. J. Intern. Med. 2007; 261:504–510.
  30. Human Gene Mutation Database, Cardiff (HGMD) http://www.hgmd.cf.ac.uk
  31. Kauffman M., Gonzalez-Morón D., Consalvo D., Kochen S. Cerebrotendinous xanthomatosis revealed in drug-resistant epilepsy diagnostic workup. Am. J. Med. Sci. 2012; 343: 332–333.
  32. Kottahachchi D., Balasooriya B., Panangala L., Ranawaka U. Two siblings with cerebrotendinous xanthomatosis. Ceylon Med. J. 2012; 57: 128–129.
  33. Lagarde J., Roze E., Apartis E. et al. Myoclonus and dystonia in cerebrotendinous xanthomatosis. Mov. Disord. 2012; 27: 1805–1810.
  34. Lagarde J., Sedel F., Degos B. Blepharospasm as a new feature of cerebrotendinous xanthomatosis. Parkinsonism Relat. Disord. 2013; 19:764–765.
  35. Lee Y., Lin P., Chiu N. et al. Cerebrotendinous xanthomatosis with psychiatric disorders: report of three siblings and literature review. Chang Gung Med. J. 2002; 25: 334–340.
  36. Leitersdorf E., Safadi R., Meiner V. et al. Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics. Am. J. Hum. Genet. 1994; 55: 907–915.
  37. Lionnet C., Carra C., Ayrignac X. et al. Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects. Rev. Neurol. (Paris). 2014; 170: 445–453.
  38. Lorbek G., Lewinska M., Rozman D. Cytochrome P450s in the synthesis of cholesterol and bile acids — from mouse models to human diseases. Febs J. 2012; 279: 1516–1533.
  39. Lorincz M., Rainier S., Thomas D., Fink J. Cerebrotendinous xanthomatosis – possible higher prevalence than previously recognized. Arch. Neurol. 2005; 62: 1459–1463.
  40. Martini G., Mignarri A., Ruvio M. et al. Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatment. Calcif. Tissue Int. 2013; 92: 282–286.
  41. Mignarri A., Dotti M., Del Puppo M. et al. Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation: six-year MRI follow-up. Neuroradiology. 2012; 54: 649–651.
  42. Mignarri A, Falcini M, Vella A et al. Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis. Parkinsonism Relat Disord. 2012; 18:99–101.
  43. Mignarri A., Gallus G., Dotti M., Federico A. A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. J. Inherit. Metab. Dis. 2014; 37: 421–429.
  44. Mignarri A., Rossi S., Ballerini M. et al. Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis. J. Neurol. 2011; 258:783–790.
  45. Moghadasian M., Salen G., Frohlich J., Scudamore C. Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations. Arch. Neurol. 2002; 59: 527–529.
  46. Nicholls Z., Hobson E., Martindale J., Shaw P. Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis. Pract Neurol. 2015 Apr 10. [Epub ahead of print] 46. Nie S., Chen G., Cao X., Zhang Y. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management Orphanet J. Rare Dis. 2014; 9: 179 http://www.ojrd.com/content/9/1/179.
  47. Ohno T., Kobayashi S., Hayashi M. et al. Diphenylpyralineresponsive parkinsonism in cerebrotendinous xanthomatosis: long-term follow up of three patients. J. Neurol. Sci. 2001; 182: 95–97.
  48. Pedroso J., Pinto W., Souza P. et al. Early-onset epilepsy as the main neurological manifestation of cerebrotendinous xanthomatosis. Epilepsy Behav. 2012; 24: 380–381.
  49. Pierre G., Setchell K., Blyth J. et al. Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy. J. Inherit. Metab.Dis. 2008; 31(Suppl 2): S241–S245.
  50. Pilo B., de Blas G., Sobrido M. et al. Neurophysiological study in cerebrotendinous xanthomatosis. Muscle Nerve. 2011; 43: 531–536.
  51. Pilo-de-la-Fuente B., Jimenez-Escrig A., Lorenzo J. et al. Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. Eur. J. Neurol. 2011; 18: 1203–1211.
  52. Reshef A., Meiner V., Berginer V., Leitersdorf E. Molecular genetics of cerebrotendinous xanthomatosis in Jews of North African origin. J.Lipid Res. 1994; 35: 478–483.
  53. Rubio-Agusti I., Kojovic M., Edwards M. et al. Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review. Mov. Disord. 2012; 27: 1769–1774.
  54. Schotsmans K., De Cauwer H., Baets J. et al. Cerebrotendinous xanthomatosis presenting with asymmetric parkinsonism: a case with I-123-FP-CIT SPECT imaging. Acta Neurol. Belg. 2012; 112: 287–289.
  55. Seidel S., Kasprian G., Prayer D. et al. Visualisation of treatment response in a case of cerebrotendinous xanthomatosis. J. Neurol. Neurosurg. Psychiatry. 2011; 82: 703–704.
  56. Selva-O’Callaghan A., Bardes I., Jacas C.et al. SPECT imaging for brain improvement quantification in a patient with cerebrotendinous xanthomatosis. Clin. Nucl. Med. 2011; 36: 38–39.
  57. Su C., Chang W., Huang S. et al. Cerebrotendinous xanthomatosis patients with and without parkinsonism: clinical characteristics and neuroimaging findings. Mov. Disord. 2010; 25: 452–458.
  58. Sugama S., Kimura A., Chen W. 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.
  59. Suh S., Kim H., Park H. et al. Three siblings with cerebrotendinous xanthomatosis: a novel mutation in the CYP27A1 gene. Eur. J. Med. Genet. 2012; 55: 71–74.
  60. Uygunoglu U., Gunduz A., Menku S. et al. Cerebrotendinous xanthomatosis: the effectiveness of high-dose piracetam for the treatment of cerebellar and sensorial ataxia. Cerebellum. 2014; 13: 787–790.
  61. Van Bogaert L., Scherer H.J., Epstein E. Une forme cerebrale de la cholesterinose generalisee. Paris: Masson (pub.) 1937.
  62. Vanrietvelde F., Lemmerling M., Mespreuve M. et al. MRI of the brain in cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease). Eur. Radiol. 2000; 10: 576–578.
  63. Verrips A., van Engelen B., Wevers R. et al. Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis. Arch. Neurol. 2000; 57: 520–524.
  64. Waisfeld-Adams J., Sand I., Honce J., Lublin F. Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis. Brain. 2015 Jan 29. Epub. ahead of print.
  65. Wallon D., Guyant-Maréchal L., Laquerrière A. et al. Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis. Clin. Neuropathol. 2010; 29: 361–364.
  66. Yahalom G., Tsabari R., Molshatzki N. et al. Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid: early versus late diagnosis. Clin. Neuropharmacol. 2013, 36: 78–83.
  67. Yoshinaga T., Sekijima Y., Koyama S. et al. Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene. Intern. Med. 2014; 53: 2725–2729.

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