Skip to main content
Erschienen in: The Cerebellum 6/2014

01.12.2014 | Case Report

Cerebrotendinous Xanthomatosis: The Effectiveness of High-Dose Piracetam for the Treatment of Cerebellar and Sensorial Ataxia

verfasst von: Ugur Uygunoglu, Aysegul Gunduz, Sukriye F Menku, Basak Yilmaz, Esra Hatipoglu, Cengiz Yalcinkaya, Sabahattin Saip, Hulya Apaydin

Erschienen in: The Cerebellum | Ausgabe 6/2014

Einloggen, um Zugang zu erhalten

Excerpt

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease that is based in a deficiency of sterol 27-hydroxylase, which leads to the storage of cholestanol and cholesterol in the lenses, central nervous system and tendons [1, 2]. The most common neurological manifestations of CTX include pyramidal signs, cerebellar ataxia, cognitive impairment, dysphagia, dysarthria and peripheral neuropathy [3]. Brain magnetic resonance imaging (MRI) usually reveals cerebral atrophy and T2 signal changes in the dentate nucleus and, less commonly, in the spinal cord and basal ganglia [4]. …
Literatur
1.
Zurück zum Zitat 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;266:7779–83.PubMed 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;266:7779–83.PubMed
2.
Zurück zum Zitat Moghadasian MH. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds. Clin Invest Med. 2004;27:42–50.PubMed Moghadasian MH. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds. Clin Invest Med. 2004;27:42–50.PubMed
3.
Zurück zum Zitat Federico A, Dotti MT, Gallus GN. Cerebrotendinous xanthomatosis. In: Pagon RA, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. Gene reviews. Seattle, WA: University of Washington; 2013. p. 1993–2003. Federico A, Dotti MT, Gallus GN. Cerebrotendinous xanthomatosis. In: Pagon RA, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. Gene reviews. Seattle, WA: University of Washington; 2013. p. 1993–2003.
4.
Zurück zum Zitat Barkhof F, Verrips A, Wesseling P, van Der Knaap MS, van Engelen BG, Gabreëls FJ, et al. Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology. 2000;217:869–76.PubMedCrossRef Barkhof F, Verrips A, Wesseling P, van Der Knaap MS, van Engelen BG, Gabreëls FJ, et al. Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology. 2000;217:869–76.PubMedCrossRef
5.
Zurück zum Zitat Salen G, Berginer V, Shore V, Horak I, Horak E, Tint GS. Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis: effect of chenodeoxycholic acid. N Engl J Med. 1987;316:1233–8.PubMedCrossRef Salen G, Berginer V, Shore V, Horak I, Horak E, Tint GS. Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis: effect of chenodeoxycholic acid. N Engl J Med. 1987;316:1233–8.PubMedCrossRef
6.
Zurück zum Zitat Berginer VM, Salen G, Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med. 1984;311:1649–52.PubMedCrossRef Berginer VM, Salen G, Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med. 1984;311:1649–52.PubMedCrossRef
7.
Zurück zum Zitat Mignarri A, Dotti MT, Del Puppo M, Gallus GN, Giorgio A, Cerase A, et al. Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation: six-year MRI follow-up. Neuroradiology. 2012;54:649–51.PubMedCrossRef Mignarri A, Dotti MT, Del Puppo M, Gallus GN, Giorgio A, Cerase A, et al. Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation: six-year MRI follow-up. Neuroradiology. 2012;54:649–51.PubMedCrossRef
8.
Zurück zum Zitat 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;48:233–8.PubMedCrossRef 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;48:233–8.PubMedCrossRef
9.
Zurück zum Zitat Ince Gunal D, Agan K, Afsar N, Borucu D, Us O. The effect of piracetam on ataxia: clinical observations in a group of autosomal dominant cerebellar ataxia patients. J Clin Pharm Ther. 2008;33:175–8.PubMedCrossRef Ince Gunal D, Agan K, Afsar N, Borucu D, Us O. The effect of piracetam on ataxia: clinical observations in a group of autosomal dominant cerebellar ataxia patients. J Clin Pharm Ther. 2008;33:175–8.PubMedCrossRef
10.
Zurück zum Zitat Vural M, Ozekmekci S, Apaydin H, Altinel A. High-dose piracetam is effective on cerebellar ataxia in patients with cerebellar cortical atrophy. Mov Disord. 2003;18:457–9.PubMedCrossRef Vural M, Ozekmekci S, Apaydin H, Altinel A. High-dose piracetam is effective on cerebellar ataxia in patients with cerebellar cortical atrophy. Mov Disord. 2003;18:457–9.PubMedCrossRef
11.
Zurück zum Zitat Winblad B. Piracetam: a review of pharmacological properties and clinical uses. CNS Drug Rev. 2005;11:169–82.PubMedCrossRef Winblad B. Piracetam: a review of pharmacological properties and clinical uses. CNS Drug Rev. 2005;11:169–82.PubMedCrossRef
12.
Zurück zum Zitat Malykh AG, Sadaie MR. Piracetam and piracetam-like drugs: from basic science to novel clinical applications to CNS disorders. Drugs. 2010;70:287–312.PubMedCrossRef Malykh AG, Sadaie MR. Piracetam and piracetam-like drugs: from basic science to novel clinical applications to CNS disorders. Drugs. 2010;70:287–312.PubMedCrossRef
13.
Zurück zum Zitat Marisco PC, Carvalho FB, Rosa MM, Girardi BA, Gutierres JM, Jaques JA, et al. Piracetam prevents scopolamine-induced memory impairment and decrease of NTPDase, 5′-nucleotidase and adenosine deaminase activities. Neurochem Res. 2013;38:1704–14.PubMedCrossRef Marisco PC, Carvalho FB, Rosa MM, Girardi BA, Gutierres JM, Jaques JA, et al. Piracetam prevents scopolamine-induced memory impairment and decrease of NTPDase, 5′-nucleotidase and adenosine deaminase activities. Neurochem Res. 2013;38:1704–14.PubMedCrossRef
14.
Zurück zum Zitat Obeso JA. Therapy of myoclonus. Clin Neurosci. 1995–1996;3:253–7. Obeso JA. Therapy of myoclonus. Clin Neurosci. 1995–1996;3:253–7.
15.
Zurück zum Zitat De Rosa A, Striano P, Barbieri F, de Falco A, Rinaldi C, Tucci T, et al. Suppression of myoclonus in SCA2 by piracetam. Mov Disord. 2006;21:116–8.PubMedCrossRef De Rosa A, Striano P, Barbieri F, de Falco A, Rinaldi C, Tucci T, et al. Suppression of myoclonus in SCA2 by piracetam. Mov Disord. 2006;21:116–8.PubMedCrossRef
16.
Zurück zum Zitat Orsucci D, Ienco EC, Rocchi A, Siciliano G, Mancuso M, Bonuccelli U. Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15. Mov Disord. 2013;28:1465.PubMed Orsucci D, Ienco EC, Rocchi A, Siciliano G, Mancuso M, Bonuccelli U. Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15. Mov Disord. 2013;28:1465.PubMed
17.
Zurück zum Zitat Saponara R, Greco S, Proto G, Trubia T, Domina E. Levetiracetam improves intention tremor in fragile x-associated tremor/ataxia syndrome. Clin Neuropharmacol. 2009;32:53–4.PubMedCrossRef Saponara R, Greco S, Proto G, Trubia T, Domina E. Levetiracetam improves intention tremor in fragile x-associated tremor/ataxia syndrome. Clin Neuropharmacol. 2009;32:53–4.PubMedCrossRef
Metadaten
Titel
Cerebrotendinous Xanthomatosis: The Effectiveness of High-Dose Piracetam for the Treatment of Cerebellar and Sensorial Ataxia
verfasst von
Ugur Uygunoglu
Aysegul Gunduz
Sukriye F Menku
Basak Yilmaz
Esra Hatipoglu
Cengiz Yalcinkaya
Sabahattin Saip
Hulya Apaydin
Publikationsdatum
01.12.2014
Verlag
Springer US
Erschienen in
The Cerebellum / Ausgabe 6/2014
Print ISSN: 1473-4222
Elektronische ISSN: 1473-4230
DOI
https://doi.org/10.1007/s12311-014-0587-y

Weitere Artikel der Ausgabe 6/2014

The Cerebellum 6/2014 Zur Ausgabe

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Neu im Fachgebiet Neurologie

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.