Works matching Cerebrotendinous xanthomatosis

Results: 268

Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.

Published in:

2016

By:

Syed Mohd Razi;
Gupta, Abhinav Kumar;
Gupta, Deepak Chand;
Gutch, Manish;
Gupta, Keshav Kumar;
Usman, Syeda Iqra;
Razi, Syed Mohd

Publication type:

journal article

Adult-Onset Treatable Leukodystrophy: Cerebrotendinous Xanthomatosis.

Published in:

Neuropsychiatric Investigation, 2022, v. 60, n. 4, p. 106, doi. 10.5152/NeuropsychiatricInvest.2022.22008

By:

Şenel, Gülçin Benbir;
Abbaszade, Hikmet;
Tekgül, Şeyma;
Başak, Nazlı;
Apaydın, Hülya

Publication type:

Article

Cerebrotendinous xanthomatosis with a novel mutation in CYP27A1 gene in a Turkish patient.

Published in:

Annals of Medical of Research, 2020, v. 27, n. 8, p. 2200, doi. 10.5455/annalsmedres.2020.03.254

By:

Dikbas, Oguz;
Torun, Deniz;
Ilgezdi, Irem;
Eyuboglu, Ilker;
Unlu, Burcu

Publication type:

Article

Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report.

Published in:

Annals of Rehabilitation Medicine, 2017, v. 41, n. 2, p. 313, doi. 10.5535/arm.2017.41.2.313

By:

Jung Yoon Yoon;
Min-Wook Kim;
Hyun Jung Do;
Dae-Hyun Jang;
Hee Won Lee

Publication type:

Article

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.

Published in:

2016

By:

Huidekoper, Hidde;
Vaz, Frédéric;
Verrips, Aad;
Bosch, Annet;
Huidekoper, Hidde H;
Vaz, Frédéric M;
Bosch, Annet M

Publication type:

journal article

Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.

Published in:

2016

By:

Degos, Bertrand;
Nadjar, Yann;
del Mar Amador, Maria;
Lamari, Foudil;
Sedel, Frédéric;
Roze, Emmanuel;
Couvert, Philippe;
Mochel, Fanny;
Amador, Maria Del Mar

Publication type:

Letter

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

Published in:

Journal of Neurology, 2018, v. 265, n. 2, p. 388, doi. 10.1007/s00415-017-8711-9

By:

Catarino, Claudia B.;
Vollmar, Christian;
Küpper, Clemens;
Seelos, Klaus;
Gallenmüller, Constanze;
Bartkiewicz, Joanna;
Biskup, Saskia;
Hörtnagel, Konstanze;
Klopstock, Thomas

Publication type:

Article

The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression.

Published in:

Journal of Neurology, 2017, v. 264, n. 5, p. 862, doi. 10.1007/s00415-017-8440-0

By:

Mignarri, Andrea;
Dotti, Maria;
Federico, Antonio;
Stefano, Nicola;
Battaglini, Marco;
Grazzini, Irene;
Galluzzi, Paolo;
Monti, Lucia

Publication type:

Article

Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.

Published in:

2017

By:

Zádori, Dénes;
Szpisjak, László;
Madar, László;
Varga, Viktória;
Csányi, Bernadett;
Bencsik, Krisztina;
Balogh, István;
Harangi, Mariann;
Kereszty, Éva;
Vécsei, László;
Klivényi, Péter;
Varga, Viktória Evelin

Publication type:

journal article

Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 5, p. 1609, doi. 10.1007/s11011-017-0047-8

By:

Chen, Chen;
Zhang, Yue;
Wu, Hui;
Sun, Yi-Min;
Cai, Ye-Hua;
Wu, Jian-Jun;
Wang, Jian;
Gong, Ling-Yun;
Ding, Zheng-Tong

Publication type:

Article

A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 2, p. 311, doi. 10.1007/s11011-017-9971-x

By:

Abdel-Hamid, Mohamed;
Issa, Mahmoud;
Otaify, Ghada;
Zaki, Maha

Publication type:

Article

Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.

Published in:

Metabolic Brain Disease, 2016, v. 31, n. 5, p. 1185, doi. 10.1007/s11011-016-9841-y

By:

Di Taranto, Maria;
Gelzo, Monica;
Giacobbe, Carola;
Gentile, Marco;
Marotta, Gennaro;
Savastano, Silvia;
Dello Russo, Antonio;
Fortunato, Giuliana;
Corso, Gaetano

Publication type:

Article

The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis.

Published in:

Journal of Physiology, 2017, v. 595, n. 11, p. 3607, doi. 10.1113/JP273670

By:

Rosini, Francesca;
Pretegiani, Elena;
Mignarri, Andrea;
Optican, Lance M.;
Serchi, Valeria;
Stefano, Nicola;
Battaglini, Marco;
Monti, Lucia;
Dotti, Maria T.;
Federico, Antonio;
Rufa, Alessandra

Publication type:

Article

Cerebrotendinous xanthomatosis without skin changes: Diagnostic delay and confirmation by genetic analysis.

Published in:

Indian Pediatrics, 2016, v. 53, n. 10, p. 917, doi. 10.1007/s13312-016-0960-7

By:

Kulkarni, Shilpa;
Garg, Meenal;
Sayed, Rafat

Publication type:

Article

Cerebrotendinous xanthomatosis and Marfan syndrome - A picturesque combination.

Published in:

2016

By:

Bhatkar, Sanat;
Mehta, Sahil;
Wilson, Vinny;
Lal, Vivek

Publication type:

journal article

Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline.

Published in:

2018

By:

Nambirajan, A.;
Sashidharan, A.;
Garg, A.;
Dash, D.;
Bhatia, R.;
Sharma, M. C.;
Mathur, S. R.

Publication type:

Case Study

Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.

Published in:

2018

By:

Jiao, H.;
Olin, M.;
Hansson, M.;
Eggertsen, G.;
Eriksson, M.;
Angelin, B.;
Björkhem, I.

Publication type:

Case Study

Cerebrotendinous xanthomatosis.

Published in:

2016

By:

Muniaswamy, Mahalakshmi;
Rengasamy, Madhu;
Aravamuthan, Ramesh;
Krishnasamy, Manoharan

Publication type:

Letter to the Editor

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

Published in:

2014

By:

Uygunoglu, Ugur;
Gunduz, Aysegul;
Menku, Sukriye;
Yilmaz, Basak;
Hatipoglu, Esra;
Yalcinkaya, Cengiz;
Saip, Sabahattin;
Apaydin, Hulya

Publication type:

Report

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.

Published in:

2014

By:

Mandrile, Giorgia;
Gallus, Gian;
Mura, Giuseppe;
Sapio, Alessia;
Sotgiu, Maria;
Montella, Andrea;
Giachino, Daniela;
Dotti, Maria;
Ulgheri, Lucia;
Federico, Antonio

Publication type:

Letter

Cerebrotendinous xanthomatosis: case report with evidence of oxidative stress.

Published in:

Redox Report, 2007, v. 12, n. 3, p. 119, doi. 10.1179/135100007X200173

By:

Gonzalez-Cuyar, Luis F.;
Hunter, Brian;
Harris, Peggy L. R.;
Perry, George;
Smith, Mark A.;
Castellani, Rudy J.

Publication type:

Article

Cerebrotendinous Xanthomatosis (CTX): An Association of Pulverulent Cataracts and Pseudo-Dominant Developmental Delay in a Family with a Splice Site Mutation in CYP27A1— A Case Report.

Published in:

Ophthalmic Genetics, 2010, v. 31, n. 2, p. 73, doi. 10.3109/13816810903584963

By:

Bourkiza, Rabia;
Joyce, Sarah;
Patel, Himanshu;
Chan, Michelle;
Meyer, Esther;
Maher, Eamonn R.;
Reddy, M. Ashwin

Publication type:

Article

A preventable ataxia: Cerebrotendinous xanthomatosis.

Published in:

Annals of Indian Academy of Neurology, 2019, v. 22, n. 4, p. 493, doi. 10.4103/aian.AIAN_126_18

By:

Shaji, Bhagya;
Srikumar, B;
Ramachandran, Dileep

Publication type:

Article

Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.1049850

By:

Ribeiro Nóbrega, Paulo;
Moura Bernardes, Anderson;
Mariano Ribeiro, Rodrigo;
Costa Vasconcelos, Sophia;
Batista Sá Araújo, David Augusto;
Carneiro de Vasconcelos Gama, Vitor;
Fussiger, Helena;
de Figueiredo Santos, Carolina;
Aguiar Dias, Daniel;
Santos Pessoa, André Luíz;
Vieira de Rezende Pinto, Wladimir Bocca;
Morales Saute, Jonas Alex;
Sgobbi de Souza, Paulo Victor;
Braga-Neto, Pedro

Publication type:

Article

Case report: Cerebrotendinous xanthomatosis treatment follow-up.

Published in:

Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1409138

By:

Ejsmont-Sowała, Karolina;
Książek, Tomasz;
Maciorowska-Rosłan, Katarzyna;
Rosłan, Joanna;
Czarnowska, Agata;
Jakubiuk-Tomaszuk, Anna;
Tarasiuk, Joanna;
Kapica-Topczewska, Katarzyna;
Kułakowska, Alina

Publication type:

Article

Case Report: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings.

Published in:

International Journal of Neuroscience, 2025, v. 135, n. 3, p. 358, doi. 10.1080/00207454.2023.2300735

By:

Tama Viteri, Francisco A.;
Cotán Marín, David;
Sánchez, Francisco A. Tama;
Sánchez, Marcia A. Tama

Publication type:

Article

A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis.

Published in:

International Journal of Neuroscience, 2020, v. 130, n. 10, p. 972, doi. 10.1080/00207454.2020.1713774

By:

Tang, Yi;
Liu, Yanqiu;
Li, Dan;
Guo, Dongmei;
Xing, Yi

Publication type:

Article

Coronary heart disease in a patient with cerebrotendinous xanthomatosis.

Published in:

Journal of Internal Medicine, 2004, v. 255, n. 6, p. 680, doi. 10.1111/j.1365-2796.2004.01316.x

By:

Valdivielso, P.;
Calandra, S.;
Durán, J. C.;
Garuti, R.;
Herrera1 & P. Gonzalez1, E.

Publication type:

Article

A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.

Published in:

Tremor & Other Hyperkinetic Movements, 2018, p. 1, doi. 10.7916/D8X07Q2N

By:

Rossi, Malco;
Cesarini, Martin;
Gatto, Emilia M.;
Cammarota, Angel;
Merello, Marcelo

Publication type:

Article

Evaluation of the effect of chenodeoxycholic acid treatment on skeletal system findings in patients with cerebrotendinous xanthomatosis.

Published in:

Türk Pediatri Arşivi, 2019, v. 54, n. 2, p. 113, doi. 10.14744/TurkPediatriArs.2019.23281

By:

Zübarioğlu, Tanyel;
Bilen, İnci Pınar;
Kıykım, Ertugrul;
Doğan, Beyza Belde;
Enver, Ece Öge;
Cansever, Mehmet Şerif;
Zeybek, Ayşe Çiğdem Aktuğlu

Publication type:

Article

Long-Term Bone Density Evaluation in Cerebrotendinous Xanthomatosis: Evidence of Improvement after Chenodeoxycholic Acid Treatment.

Published in:

Calcified Tissue International, 2013, v. 92, n. 3, p. 282, doi. 10.1007/s00223-012-9677-3

By:

Martini, Giuseppe;
Mignarri, Andrea;
Ruvio, Martina;
Valenti, Roberto;
Franci, Beatrice;
Puppo, Marina;
Federico, Antonio;
Nuti, Ranuccio;
Dotti, Maria

Publication type:

Article

Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review.

Published in:

Brain Sciences (2076-3425), 2023, v. 13, n. 7, p. 979, doi. 10.3390/brainsci13070979

By:

Ribeiro, Rodrigo Mariano;
Vasconcelos, Sophia Costa;
Lima, Pedro Lucas Grangeiro de Sá Barreto;
Coelho, Emanuel Ferreira;
Oliveira, Anna Melissa Noronha;
Gomes, Emanuel de Assis Bertulino Martins;
Mota, Luciano de Albuquerque;
Radtke, Lucas Soares;
Carvalho, Matheus dos Santos;
Araújo, David Augusto Batista Sá;
Pinheiro, Maria Suelly Nogueira;
Gama, Vitor Carneiro de Vasconcelos;
Júnior, Renan Magalhães Montenegro;
Braga Neto, Pedro;
Nóbrega, Paulo Ribeiro

Publication type:

Article

Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review.

Published in:

Egyptian Journal of Neurology, Psychiatry & Neurosurgery, 2023, v. 59, n. 1, p. 1, doi. 10.1186/s41983-023-00644-4

By:

Eliaçık, Sinan;
Çil, Gülsüm

Publication type:

Article

A novel CYP27A1 frameshift mutation causing cerebrotendinous xanthomatosis in an Indian family.

Published in:

Annals of Movement Disorders, 2022, v. 5, n. 2, p. 125, doi. 10.4103/AOMD.AOMD_42_21

By:

Shukla, Shilpi;
Chovatiya, Harshad;
Shamim, Uzma;
Faruq, Mohammed;
Desai, Soaham

Publication type:

Article

Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.

Published in:

Pediatric Transplantation, 2022, v. 26, n. 6, p. 1, doi. 10.1111/petr.14318

By:

Pietrobattista, Andrea;
Spada, Marco;
Candusso, Manila;
Boenzi, Sara;
Dionisi‐Vici, Carlo;
Francalanci, Paola;
Morrone, Amelia;
Ferri, Lorenzo;
Indolfi, Giuseppe;
Agolini, Emanuele;
Giordano, Giuseppe;
Monti, Lidia;
Maggiore, Giuseppe;
Knisely, A. S.

Publication type:

Article

Psychiatric manifestations in cerebrotendinous xanthomatosis.

Published in:

Translational Psychiatry, 2013, v. 3, n. 9, p. 1, doi. 10.1038/tp.2013.76

By:

Fraidakis, M. J.

Publication type:

Article

c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00682

By:

Jiang, Jingwen;
Chen, Guang;
Wu, Jingying;
Luan, Xinghua;
Zhou, Haiyan;
Liu, Xiaoli;
Zhu, Zeyu;
Song, Xiaoxuan;
Wang, Shige;
Qian, Xiaohang;
Du, Juanjuan;
Huang, Xiaojun;
Zhang, Mei;
Xu, Wei;
Cao, Li

Publication type:

Article

A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report.

Published in:

2024

By:

Min, Je Hong;
Kim, Yoon Seob;
Son, Myeong Jin;
Joo, In Soo

Publication type:

Case Study

Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition.

Published in:

European Journal of Neurology, 2025, v. 32, n. 1, p. 1, doi. 10.1111/ene.70006

By:

O'Keefe, Emily;
Kiernan, Matthew;
Huynh, William

Publication type:

Article

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 179, doi. 10.1186/s13023-014-0179-4

By:

Shuke Nie;
Guiqin Chen;
Xuebing Cao;
Yunjian Zhang

Publication type:

Article

Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid.

Published in:

Journal of Neurology, 2013, v. 260, n. 1, p. 268, doi. 10.1007/s00415-012-6630-3

By:

Ginanneschi, F.;
Mignarri, A.;
Mondelli, M.;
Gallus, G.;
Del Puppo, M.;
Giorgi, S.;
Federico, A.;
Rossi, A.;
Dotti, M.

Publication type:

Article

Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis.

Published in:

Journal of Neurology, 2011, v. 258, n. 5, p. 783, doi. 10.1007/s00415-010-5829-4

By:

Mignarri, A.;
Rossi, S.;
Ballerini, M.;
Gallus, G.;
Puppo, M.;
Galluzzi, P.;
Federico, A.;
Dotti, M.

Publication type:

Article

Cerebrotendinous xanthomatosis: Neuropathological findings.

Published in:

Journal of Neurology, 2008, v. 255, n. 6, p. 839, doi. 10.1007/s00415-008-0729-6

By:

Pilo de la Fuente, B.;
Ruiz, I.;
Lopez de Munain, A.;
Jimenez-Escrig, A.

Publication type:

Article

De- and remyelination and onion bulb in cerebrotendinous xanthomatosis.

Published in:

Acta Neuropathologica, 1979, v. 45, n. 1, p. 43, doi. 10.1007/BF00691803

By:

Ohnishi, A.;
Yamashita, Y.;
Goto, I.;
Kuroiwa, Y.;
Murakami, S.;
Ikeda, M.

Publication type:

Article

Late-onset spinal form xanthomatosis without brain lesion: a case report.

Published in:

2016

By:

Masaru Yanagihashi;
Osamu Kano;
Tomoya Terashima;
Yuji Kawase;
Sayori Hanashiro;
Masahiro Sawada;
Yuichi Ishikawa;
Nobuyuki Shiraga;
Ken Ikeda;
Yasuo Iwasaki;
Yanagihashi, Masaru;
Kano, Osamu;
Terashima, Tomoya;
Kawase, Yuji;
Hanashiro, Sayori;
Sawada, Masahiro;
Ishikawa, Yuichi;
Shiraga, Nobuyuki;
Ikeda, Ken;
Iwasaki, Yasuo

Publication type:

journal article

Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy.

Published in:

Neuropathology, 2007, v. 27, n. 1, p. 62, doi. 10.1111/j.1440-1789.2006.00739.x

By:

Wang, Zhaoxia;
Yuan, Yun;
Zhang, Wei;
Zhang, Ying;
Feng, Liqun

Publication type:

Article

Identification of two Iranian siblings with cerebrotendinous xanthomatosis: a case report.

Published in:

2023

By:

Beyzaei, Zahra;
Moravej, Hossein;
Imanieh, Mohammad Hadi;
Inaloo, Sorour;
Geramizadeh, Bita

Publication type:

Case Study

Case Report: Cerebrotendinous xanthomatosis.

Published in:

2009

By:

Karandikar, Amit A.;
Pushparajan, S.;
Unni, Madhavan N.;
Srinivas, R.

Publication type:

Case Study

MRI of the brain in cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease).

Published in:

2000

By:

Vanrietvelde, F.;
Lemmerling, M.;
Mespreuve, M.;
Crevits, L.;
De Reuck, J.;
Kunnen, M.

Publication type:

journal article

Features of the metabolic syndrome and subclinical atherosclerosis in patients with cerebrotendinous xanthomatosis: An augmented risk for premature cardiovascular disease.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 01, doi. 10.3389/fgene.2022.997069

By:

Cohen, H.;
Hassin-Baer, S.;
Shaish, A.

Publication type:

Article