Results 141 to 150 of about 4,294 (176)

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

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, C. Ahuja   +3 more
semanticscholar   +1 more source

Cerebrotendinous Xanthomatosis Is Treatable

Pediatric Dermatology, 1985
Abstract: Cerebrotendinous xanthomatosis is a recessively inherited disorder of bile acid metabolism. Cataracts and tendinous xanthomas begin during ado‐lescence. Results of routine tests of plasma lipids are normal. Therapy with chenodeoxycholic acid may reduce the production of cholestanol and thus slow the course of the disease.
openaire   +2 more sources

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Molecular Genetics and Metabolism
OBJECTIVE Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder characterized by progressive neurologic and extraneurologic findings. The aim of this retrospective, descriptive study was to explore the time of presentation and diagnosis,
T. Zubarioglu, E. Kıykım, Çiğdem Aktuğlu-Zeybek, Engin Köse, F. T. Eminoğlu, Pelin Teke-Kısa, M. Cihan, Işıl Özer, A. Inci, Kübra Çilesiz, E. Canda, Havva Yazıcı, Burcu Öztürk-Hişmi, F. Bulut, S. Dorum, Abdurrahman Akgun, G. Yalcin-Cakmakli, Gonca Kılıç-Yıldırım, E. Soyuçen, Aylin Akçalı, Dilek Güneş, Aslı Durmuş, Ayşegül Gündüz, C. Kasapkara, Emine Göksoy, H. Akar, Melike Ersoy, Şahin Erdöl, Yılmaz Yıldız, H. Hanağası, N. Arslan   +30 more
semanticscholar   +1 more source

Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols.

Journal of Clinical Lipidology
BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid disorder. Affected patients often remain undiagnosed until the age of 20-30 years, when they have already developed significant neurologic disease that may not be ...
Andrea E DeBarber, Ernst J. Schaefer, Jenny Do, Joseph W. Ray, Austin Larson, Samantha Redder, Maya Fowler, P. B. Duell   +7 more
semanticscholar   +1 more source

Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them.

Journal of Clinical Lipidology
BACKGROUND Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare but treatable lipid storage disease resulting from mutations in the CYP27A1 gene.
Banu Kadıoğlu Yılmaz, Halil Çelik
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.
openaire   +1 more source

[Cerebrotendinous xanthomatosis].

Schweizerische medizinische Wochenschrift, 1991
Cerebrotendinous xanthomatosis (CTX) is a rare lipid storage disorder due to an autosomal-recessive inherited defect of the hepatic mitochondrial steroid 26-hydroxylase. The resultant reduced biosynthesis of cholic and especially chenodeoxycholic acid and the increased production and accumulation of cholestanol and cholesterol in most tissues is ...
R W, Baumgartner, V, Hauser, P, Grob, W, Waespe   +3 more
openaire   +1 more source

Sleep disorders in cerebrotendinous xanthomatosis: A case series.

Sleep Medicine
Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder characterized by a variety of neurological and systemic symptoms, including cerebellar ataxia, cataracts, tendon xanthomas, and polyneuropathy. This study aimed to investigate sleep patterns
Liandra Rayanne de Sousa Barbosa, A. E. Camelo-filho, Pedro Lucas Grangeiro de Sá Barreto Lima, Alissa Elen Formiga Moura, André Luis Santos Pessoa, P. Braga-Neto, M. Sobreira-Neto, P. R. Nóbrega   +7 more
semanticscholar   +1 more source

Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil

Clinical Genetics
There are few cerebrotendineous xanthomatosis (CTX) case series and observational studies including a significant number of Latin American patients. We describe a multicenter Brazilian cohort of patients with CTX highlighting their clinical phenotype ...
H. Fussiger, P. L. G. S. B. Lima, P. V. S. Souza, F. Freua, A. Husny, E. E. Leão, P. Braga-Neto, Fernando Kok, David S. Lynch, J. Saute, P. R. Nóbrega   +10 more
semanticscholar   +1 more source