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Blepharospasm as a new feature of cerebrotendinous xanthomatosis - PubMed

Case Reports

Blepharospasm as a new feature of cerebrotendinous xanthomatosis

Julien Lagarde et al. Parkinsonism Relat Disord. 2013 Aug.

No abstract available

Early-onset epilepsy as the main neurological manifestation of cerebrotendinous xanthomatosis.
Pedroso JL, Pinto WB, Souza PV, Santos LT, Abud IC, Avelino MA, Barsottini OG. Pedroso JL, et al. Epilepsy Behav. 2012 Jul;24(3):380-1. doi: 10.1016/j.yebeh.2012.04.121. Epub 2012 May 30. Epilepsy Behav. 2012. PMID: 22658436
Cerebrotendinous xanthomatosis in three siblings from a Chinese family.
Ko KF, Lee KW. Ko KF, et al. Singapore Med J. 2001 Jan;42(1):30-2. Singapore Med J. 2001. PMID: 11361235
Cerebrotendinous xanthomatosis with cerebellar ataxia as the chief symptom.
Okuma H, Kitagawa Y, Tokuoka K, Takagi S. Okuma H, et al. Intern Med. 2007;46(15):1259-61. doi: 10.2169/internalmedicine.46.6448. Epub 2007 Aug 2. Intern Med. 2007. PMID: 17675781 No abstract available.
[Cerebrotendinous xanthogranulomatosis. Apropos a case].
Caronia A, Elia M, Musumeci N, Manfrè L. Caronia A, et al. Radiol Med. 1999 Nov;98(5):412-3. Radiol Med. 1999. PMID: 10780228 Review. Italian. No abstract available.
Role of MR imaging in the diagnosis of cerebrotendinous xanthogranulomatosis, case report and review of literature.
Colonnese C, Bozzao A, Finocchi V, Iapaolo D, Fantozzi LM. Colonnese C, et al. Radiol Med. 2003 Jan-Feb;105(1-2):100-3. Radiol Med. 2003. PMID: 12700552 Review. English, Italian. No abstract available.

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
Nie S, Chen G, Cao X, Zhang Y. Nie S, et al. Orphanet J Rare Dis. 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. Orphanet J Rare Dis. 2014. PMID: 25424010 Free PMC article. Review.