Results 171 to 180 of about 5,605 (209)

Cerebrotendinous Xanthomatosis

The Journal of Dermatology, 1990
AbstractA case report on a 23‐year‐old female patient with cerebrotendinous xanthomatosis (CTX) is presented. From 8 years of age, the patient clinically showed multiple xanthoma masses on both knees, both heels, and the nasal bridge, juvenile cataracts, multiple abnormal neurologic dysfunctions, and dementia.
S Y, Hwang, K H, Lee, J I, Ahn
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Cerebrotendinous xanthomatosis

Clinical Neurology and Neurosurgery, 1992
Cerebrotendinous xanthomatosis (CTX) is a familial sterol storage disease based on an inborn error of metabolism involving bile acid synthesis. Predominant clinical features are a chronic progressive neurological syndrome, mental deterioration, bilateral cataract and xanthomas.
J L, van Hellenberg Hubar, E M, Joosten, R A, Wevers   +2 more
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Cerebrotendinous Xanthomatosis

Archives of Ophthalmology, 1976
A case of presumed cerebrotendinous xanthomatosis is described. The association of cataracts with central nervous system signs and tendon xanthoma is noted. Deposition of cholestanol appears to be the primary lesion in this disease.
W P, Kearns, W S, Wood
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Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): a randomized withdrawal, double-blind, placebo-controlled, crossover phase 3 study.

Genetics in Medicine
BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by pathogenic variants in CYP27A1 resulting in sterol 27-hydroxylase deficiency and accumulation of cholestanol and bile alcohols.
Y. Kisanuki, Paulo Nobrega, Ryan Himes, S. Jayadev, John A. Bernat, Vikram Prakash, James Gibson, Austin Larson, Paulo Sgobbi, Andrea Debarber, Edward Murphy, Brian Fedor, Cheryl Wong Po Foo, Rana Dutta, Michael Imperiale, W. Garner, Joanne Quan, P. Vig, P. B. Duell, Sarah Perez, Ritesh A. Ramdhani, J. Saute, Sarah J. Feddersen, M.D. Holida, Alpa Sidhu, Theresa M. Czech, Alina Dumitrescu, Johanna Henriques Nehm, Ana Luísa Dubiela, Tamires Silva Alves, M. Scherer, Paula Pereira, Bruno Rutkoski Dorr, Francini Petrolli, Franciele Santos Maciel, Gladis Reyes-Pimentel, S. K. Kostyk, Jay P. Singh, Christine M. Martinez, W. D. R. de Rezende Pinto, P. Serrano, Ricardo Evangelista Marrocos de Aragão, Pedro Braga-Neto, Manoel Alves Sobreira Neto   +43 more
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A case series of nine patients with cerebrotendinous xanthomatosis from India and a systematized review of Indian literature.

Parkinsonism & Related Disorders
INTRODUCTION Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive congenital disorder of bile acid metabolism resulting from variants in the CYP27A1 gene. CTX presents with heterogenous clinical features.
Farsana Mustafa, Thrupthi Km, A. Agarwal, J. Ganguly, S. Bhowmick, Ajay Garg, S. Shah, Hrishikesh Kumar, Soutrik Das, A. Srivastava, Shailesh Gaikwad, Divyani Garg   +11 more
semanticscholar   +1 more source

Paediatric cerebrotendinous xanthomatosis

Journal of Inherited Metabolic Disease, 1992
Cerebrotendinous xanthomatosis (CTX; McKusick 213700) is a rare autosomal recessive inborn error of metabolism involving the mitochondrial 26-hydroxylation of the sterol side-chain in bile acid synthesis (Bjorkhem and Skrede 1989). Generally, patients with CTX are diagnosed in their third decade or later, symptoms appearing in or after the second ...
R A, Wevers, J R, Cruysberg, A F, Van Heijst, F S, Janssen-Zijlstra, W O, Renier, B G, Van Engelen, J J, Tolboom   +6 more
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Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews.

Molecular Genetics and Metabolism
Cerebrotendinous Xanthomatosis (CTX) is a treatable, inborn error of bile acids metabolism caused by pathogenic variants in CYP27A1. CTX is a multi-organ system disorder that progresses over decades.
J. Hanson, P. Bonnen
semanticscholar   +1 more source

Long‐Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response

Journal of Inherited Metabolic Disease
Cerebrotendinous xanthomatosis (CTX) is a treatable neurometabolic disorder. Chenodeoxycholic acid (CDCA) is the first‐line treatment and can potentially halt disease progression if initiated before neurologic symptoms appear.
T. Zubarioglu, Banu Kadıoğlu-Yılmaz, Engin Köse, Pelin Teke-Kısa, M. C. Balcı, Havva Yazıcı, Burcu Özturk-Hişmi, Abdurrahman Akgün, D. Kor, Sevil Yıldız, Gonca Kılıç-Yıldırım, E. Soyuçen, Aylin Akçalı, Yılmaz Yıldız, Aslı Durmuş, Dilek Güneş, Pembe Soylu-Üstkoyuncu, C. Kasapkara, Şahin Erdöl, Emine Göksoy, H. Akar, Haluk Gümüş, A. H. Ekmekci̇, F. T. Eminoğlu, Nur Arslan, H. Hanağası, E. Canda, Emine Genç, Işıl Özer, Ayşegül Gündüz, E. Kıykım, Çiğdem Aktuğlu-Zeybek   +31 more
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Inferior olivary hypertrophy and palatal tremor in cerebrotendinous xanthomatosis

BMJ Case Reports
Cerebrotendinous xanthomatosis (CTX) is a rare lipid storage disorder, and palatal tremor, as well as inferior olivary hypertrophy in its clinical spectrum, is exceptional. A man in his 30s who presented with bilateral lower limb weakness and spasticity,
Riya Sharma, Tanish Modi, Ritu Shree, Chirag K. Ahuja   +3 more
semanticscholar   +1 more source

Cerebrotendinous xanthomatosis

2022
Clinical History: 23-year-old mentally retarded female patient, presented with a history of seizures since childhood. On examination, the patient had cataracts bilaterally and soft tissue swellings along the posterior aspect of both ankles. No other significant family or personal history.
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