Results 21 to 30 of about 4,294 (176)

Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia. [PDF]

Mol Genet Metab Rep
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic genetic disease resulting from defects in the bile acid metabolism. This report describes cases diagnosed with CTX at an exceptionally early age – 4 months (Patient #2 and #
Alsaleem BM, Ahmed AB, Alruwaithi MM, Alamery TY, Alrajhi NN.   +4 more
europepmc   +2 more sources

Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention. [PDF]

Brain Sci
Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder caused by mutations in the CYP27A1 gene, leading to cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is an underrecognized feature with considerable
Camelo-Filho AE, Lima PLGSB, Cavalcante FLHB, Miyajima OR, Santos CF, da Rosa RF, Pessoa ALS, Braga-Neto P, Nóbrega PR.   +8 more
europepmc   +2 more sources

A preventable ataxia: Cerebrotendinous xanthomatosis

Annals of Indian Academy of Neurology, 2019
Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the development ...
Bhagya Shaji, B Srikumar, Dileep Ramachandran   +2 more
doaj   +3 more sources

Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report. [PDF]

Medicine (Baltimore)
Introduction: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid metabolism disorder. It is caused by a defect in the sterol-27-hydroxylase gene, leading to the deposition of cholesteryl and bile alcohol in large amounts, causing a ...
Zhao W, Han J, Tao D, Zheng H.
europepmc   +2 more sources

The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis. [PDF]

JCEM Case Rep
Tendinous xanthomas are usually a sign of genetic dyslipidemias and are said to be pathognomonic for familial hypercholesterolemia. However, the differential diagnosis must also include rarer forms of genetic dyslipidemias such as cerebrotendinous ...
Guay SP, Paquette M, Poulin V, Levtova A, Baass A, Bernard S.   +5 more
europepmc   +2 more sources

Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Background: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by bi-allelic pathogenic variants in CYP27A1 gene that results in the deposition of cholestanol in the eyes, tendons, soft tissues and nervous system leading ...
Katragadda P, Holla VV, Kamble N, Saini J, Yadav R, Pal PK.   +5 more
europepmc   +2 more sources

Frontier and hotspot evolution in cerebrotendinous xanthomatosis: a bibliometric analysis from 1993 to 2023. [PDF]

Front Neurol
Background Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease associated with lipid metabolic disorders. Because of its clinical diversity and rarity, the diagnosis is often unclear.
Luo F, Ding Y, Zhang S, Diao J, Yuan B.
europepmc   +2 more sources

Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study. [PDF]

Mol Syndromol
Background: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive congenital metabolic disorder, which is characterized by the impairment of the enzymatic activity of sterol 27-hydroxylase.
Karadag M, Turan MI, Celebi C, Caglar T.
europepmc   +2 more sources

Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene. [PDF]

Orphanet J Rare Dis
Background Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by loss of function variants in the CYP27A1 gene which encodes sterol 27-hydroxylase, on chromosome 2q35.
Köroğlu M, Karakaplan M, Gündüz E, Kesriklioğlu B, Ergen E, Aslantürk O, Özdemir ZM.   +6 more
europepmc   +2 more sources

A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report. [PDF]

J Med Case Rep
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 symptoms seen in classical CTX. Here we report a spinal
Min JH, Kim YS, Son MJ, Joo IS.
europepmc   +2 more sources