Results 181 to 190 of about 5,605 (209)

Clinical and Electrophysiological Reversal of Cerebrotendinous Xanthomatosis

Neurology India Case Report
We describe a patient who presented with spastic ataxic syndrome without cataract or xanthomas, and a diagnosis of cerebrotendinous xanthomatosis was made based on imaging and genetic tests.
P. Mailankody, S. R. Chandra, M. Bhat, Shantala Hegde, Veeranna Gadad   +4 more
semanticscholar   +1 more source

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, Gül Yalçin-Çakmakli, 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

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

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

Sleep profile in cerebrotendinous xanthomatosis patients: a pilot study

Arquivos de Neuro-Psiquiatria
Background: Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disorder caused by variant in CYP27A1. The classical neurological phenotype presents with neuropsychiatric symptoms related to the brain, cerebellum, and/or ...
P. L. G. S. B. Lima, Liandra Rayanne de Sousa Barbosa, A. Moura, A. E. Camelo-filho, Pedro Helder de Oliveira Junior, Mariana Michiles Santos Ramos, Lívio Leite Barros, P. Braga-Neto, Manoel Alves Sobreira Neto, P. R. Nóbrega   +9 more
semanticscholar   +1 more source

Cerebrotendinous Xanthomatosis: electrophysiological and ultrasonographic characterization in a Brazilian study

Arquivos de Neuro-Psiquiatria
Background: Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disorder related to bile acid biosynthesis pathways with pathogenic variants in CYP27A1.
Antonio Edvan Camelo Filho, P. L. G. S. B. Lima, P. R. Nóbrega, P. Braga-Neto   +3 more
semanticscholar   +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

[Cerebrotendinous xanthomatosis].

Deutsche medizinische Wochenschrift (1946), 2007
A 43-year-old woman had since childhood suffered from progressive dementia. Gait ataxia and mild polyneuropathy were noted in the neurological examination. She also had painful xanthomas of the achilles tendons. A bilateral cataract operation had been performed during adolescence.An elevated concentration of cholestanol and a normal cholesterol level ...
L, Burghaus, W, Liu, W F, Haupt
openaire   +1 more source