Results 131 to 140 of about 4,294 (176)

Cerebrotendinous xanthomatosis

The Indian Journal of Pediatrics, 2010
We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases.
Mahesh, Kamate, Vivek, Chetal, Virupaxi, Hattiholi   +2 more
openaire   +3 more sources

Cerebrotendinous xanthomatosis revisited

Practical Neurology, 2021
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia.
Seyed Mohammad Baghbanian, Mohammad Reza Mahdavi Amiri, Hadi Majidi   +2 more
openaire   +2 more sources

Cerebrotendinous xanthomatosis

Current Opinion in Lipidology, 1994
Cerebrotendinous xanthomatosis is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27) gene. Recent cloning and characterization of CYP27 enables further analysis and understanding of the pathophysiology of this multisystem disease.
E, Leitersdorf, V, Meiner
openaire   +2 more sources

Update on cerebrotendinous xanthomatosis

Current Opinion in Lipidology, 2021
Purpose of review Cerebrotendinous xanthomatosis (CTX) is a rare genetic lipid storage disorder with highly pleomorphic clinical phenotype. Complications of this disease can be devastating and may include severe cognitive impairment and dementia in later stages.
Andrea E, DeBarber, P Barton, Duell
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

Cerebrotendinous xanthomatosis

Journal of the American Academy of Dermatology, 2001
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene. The accumulation of cholestanol in various tissues characterizes this disease. Diagnosis is based on determination of urinary bile alcohols.
S, Bel, V, García-Patos, L, Rodríguez, A, Selva, P, Díaz, B G, Wolthers, A, Castells   +6 more
openaire   +2 more sources

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
openaire   +2 more sources

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
semanticscholar   +1 more source