Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurology"
DOI: 10.1007/s00415-017-8711-9
Abstract: Cerebrotendinous xanthomatosis (CTX, MIM 213700) is a rare autosomal recessive lipid storage disorder caused by CYP27A1 mutations. Treatment with chenodeoxycholic acid (CDCA) may slow the progression of the disease and reverse some symptoms in a… read more here.
Keywords: tensor imaging; treatment; brain; diffusion tensor ... See more keywords
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families
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DOI: 10.1007/s11011-017-0047-8
Abstract: Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1. Current publications of Chinese CTX were mainly based on case reports. Here we investigated the clinical manifestations, genetic features in Chinese CTX patients.… read more here.
Keywords: chinese ctx; ctx patients; family; genetic features ... See more keywords
Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.
Sign Up to like & getrecommendations! Published in 2021 at "Metabolic brain disease"
DOI: 10.1007/s11011-021-00714-7
Abstract: Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by deficiency of sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. This multicenter, cross-sectional descriptive study aimed to document clinical characteristics of CTX patients of different ages,… read more here.
Keywords: disease; cerebrotendinous xanthomatosis; patients adult; pediatric patients ... See more keywords
A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-019-01267-4
Abstract: Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive defect of the alternative pathway of bile acid biosynthesis, due to the deficiency of mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 . The deficit of sterol… read more here.
Keywords: cyp27a1; involvement; cerebrotendinous xanthomatosis; tendon xanthomas ... See more keywords
Cerebrotendinous xanthomatosis, sitosterolemia, Smith-Lemli-Opitz syndrome and the seminal contributions of Gerald Salen, MD (1935-2020).
Sign Up to like & getrecommendations! Published in 2021 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2021.05.004
Abstract: Cerebrotendinous xanthomatosis (CTX), sitosterolemia, and Smith-Lemli Opitz syndrome (SLOS) are rare inborn errors of metabolism. The diagnoses of CTX and sitosterolemia are often delayed for many years because of lack of physician awareness, often resulting… read more here.
Keywords: lemli opitz; sitosterolemia; cholesterol; smith lemli ... See more keywords
Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Lipid Research"
DOI: 10.1016/j.jlr.2021.100078
Abstract: Cerebrotendinous xanthomatosis (CTX) is caused by autosomal recessive loss-of-function mutations in CYP27A1, a gene encoding cytochrome p450 oxidase essential for bile acid synthesis, resulting in altered bile acid and lipid metabolism. Here, we aimed to… read more here.
Keywords: patients ctx; serum cerebrospinal; brain; cerebrotendinous xanthomatosis ... See more keywords
Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2018.04.043
Abstract: Cerebrotendinous Xanthomatosis (CTX) is a rare genetic disorder due to mutations in the CYP27A1 gene resulting in both systemic and neurologic manifestations from accumulation and deposition of cholestanol in tissues. Chenodeoxycholic Acid (CDCA) is the… read more here.
Keywords: cdca; ctx; ataxia; cdca riluzole ... See more keywords
Early diagnosis for cerebrotendinous xanthomatosis with juvenile cataract and family history.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2197492
Abstract: PURPOSE Cerebrotendinous xanthomatosis is characterized by excessive accumulation of cholestanol and cholesterol in multiple tissues including the brain, tendons, and the crystalline lens. Since juvenile cataract is the most common and early pathognomonic feature of… read more here.
Keywords: history; cataract; juvenile cataract; cerebrotendinous xanthomatosis ... See more keywords
Update on cerebrotendinous xanthomatosis
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DOI: 10.1097/mol.0000000000000740
Abstract: 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… read more here.
Keywords: diagnosis; ctx; diagnosis ctx; update cerebrotendinous ... See more keywords
Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline
Sign Up to like & getrecommendations! Published in 2018 at "Cytopathology"
DOI: 10.1111/cyt.12573
Abstract: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease caused by inactivating mutations in the CYP27A1 gene, encoding for sterol 21-hydroxylase, a mitochondrial enzyme, involved in bile acid synthesis. First reported by Bogaert in… read more here.
Keywords: xanthomatosis; xanthomatosis two; cytological diagnosis; cerebrotendinous xanthomatosis ... See more keywords
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment[S]
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Lipid Research"
DOI: 10.1194/jlr.m087999
Abstract: Cerebrotendinous xanthomatosis (CTX) is a progressive metabolic leukodystrophy. Early identification and treatment from birth onward effectively provides a functional cure, but diagnosis is often delayed. We conducted a pilot study using a two-tier test for… read more here.
Keywords: identification treatment; ctx; cerebrotendinous xanthomatosis; early identification ... See more keywords