Knight Cardiovascular Institute, and Division of Endocrinology, Diabetes & Clinical Nutrition, Oregon Health & Science University, Portland, Oregon, USA.
Publications dans "Xanthomatose cérébrotendineuse" :
Department of Neurology, Catharina Hospital, Eindhoven, The Netherlands; Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands. Electronic address: b.stelten@cwz.nl.
Publications dans "Xanthomatose cérébrotendineuse" :
Department of Laboratory Medicine, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: ron.wevers@radboudumc.nl.
Publications dans "Xanthomatose cérébrotendineuse" :
Neurology Department, Reference Center for Lysosomal Diseases, Neurogenetics and Metabolism Unit, Hôpital Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, 75013, Paris, France. yann.nadjar@aphp.fr.
Publications dans "Xanthomatose cérébrotendineuse" :
From the Department of Neurology (B.M.L.S.), Catharina Hospital, Eindhoven; Department of Neurology (B.M.L.S., A.V.), Canisius Wilhelmina Hospital, Nijmegen; Department of Pediatrics (H.H.H.), Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center-University Hospital, Rotterdam; Department of Neurology (B.P.C.v.d.W.), Donders Institute for Brain, Cognition and Behaviour (B.P.C.v.d.W., R.A.W.), and Department of Laboratory Medicine (L.A.J.K., R.A.W.), Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen; Department of Genetics (E.H.B.), University Medical Center Utrecht; Department of Internal Medicine (C.E.M.H.), Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam; Department of Internal Medicine (H.R.H.), Máxima Medical Center Eindhoven; Department of Internal Medicine (H.R.H.), Maastricht University Medical Center; and CAPHRI School for Public Health and Primary Care, Ageing and Long-Term Care (H.R.H.), Maastricht University, the Netherlands.
Publications dans "Xanthomatose cérébrotendineuse" :
İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Division of Pediatric Nutrition and Metabolism, İstanbul, Turkey. Electronic address: tanyel.zubarioglu@iuc.edu.tr.
Publications dans "Xanthomatose cérébrotendineuse" :
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Bart.vandeWarrenburg@radboudumc.nl.
Publications dans "Xanthomatose cérébrotendineuse" :
Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Publications dans "Xanthomatose cérébrotendineuse" :
Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address: ludger.schoels@uni-tuebingen.de.
Publications dans "Xanthomatose cérébrotendineuse" :
Cerebrotendinous xanthomatosis is characterized by excessive accumulation of cholestanol and cholesterol in multiple tissues including the brain, tendons, and the crystalline lens. Since juvenile cata...
This is a retrospective noncomparative case series. Four symptomatic siblings and their asymptomatic parents were examined. Detailed eye examination, medical history analysis, evaluation of systemic f...
While one sister presented with bilateral fleck-like opacities and posterior subcapsular cataract, two twin sisters had anterior star-shaped sutural cataract and posterior subcapsular cataract besides...
In the absence of chronic diarrhea, the presence of juvenile cataract (especially bilateral fleck-like opacities), neurological symptoms in the family history, and consanguinity of the parents might b...
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder caused by 27-hydroxylase deficiency. We report the clinical characteristics of six Korean CTX patients. The median...
Cerebrotendinous xanthomatosis (CTX) is a rare inherited disease characterized by sterol 27-hydroxylase (CYP27A1) deficiency and, thus, a lack of bile acid synthesis with a marked accumulation of 7α-h...
Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive bile acid synthesis disorder caused by pathologic variants in CYP27A1, a gene involved in bile acid synthesis. Impaired function in ...
Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare inherited metabolic disease caused by the mutation in the CYP27A1 gene. Spinal CTX is a rare clinical subgroup of CTX which lacks typical s...
A 42-year-old Asian man visited our hospital with spastic gait started at 35. Physical examination showed bilateral masses on his Achilles tendons and were identified as xanthoma on ankle magnetic res...
We believe that novel mutation detected in our case might have a role in the pathomechanism in CTX. Moreover, spinal CTX should be considered in the patients only presenting with pyramidal symptoms, a...
Biallelic mutations in CYP27A1 and CYP7B1, two critical genes regulating cholesterol and bile acid metabolism, cause cerebrotendinous xanthomatosis (CTX) and hereditary spastic paraplegia type 5 (SPG5...
To generate induced pluripotent stem cell (iPSC)-based models for CTX and SPG5, we reprogrammed patient skin fibroblasts into iPSCs by transducing fibroblast cells with episomal vectors containing plu...
CTX and SPG5 patient iPSC-derived cortical PNs recapitulated several disease-specific biochemical changes and axonal defects of both diseases. Notably, the bile acid chenodeoxycholic acid (CDCA) effec...
Our data demonstrate disease-specific lipid disturbances and axonopathy mechanisms in human pluripotent stem cell-based neuronal models of CTX and SPG5 and identify CDCA, an established treatment of C...
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 patie...
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by a mutation in the...
A 60-year-old woman presented with behavioral and personality changes. She showed disinhibition, such as hoarding and becoming aggressive over trifles; compulsive behavior, such as closing doors; apat...
This report discusses the case of a middle-aged CTX patient with an unusual phenotype of bvFTD. A novel likely pathogenic variant (c.1001T>A, p.Met334Lys) was identified in the...
Xanthomatosis is a genetic disease inherited in an autosomal recessive manner. The specific phenotypic features are associated with patient's genetic profile. The result of the mutation is disorder of...
In this article, patients with cerebrotendinous xanthomatosis (CTX) and caregivers detail their experience with lifelong symptoms, diagnosis, treatment and efficacy, and ongoing disease management. On...
