Results 111 to 120 of about 1,415 (156)

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

J Med Case Rep
Min JH, Kim YS, Son MJ, Joo IS.
europepmc   +1 more source

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

Tremor Other Hyperkinet Mov (N Y)
Katragadda P, Holla VV, Kamble N, Saini J, Yadav R, Pal PK.   +5 more
europepmc   +1 more source

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

Orphanet J Rare Dis
Köroğlu M, Karakaplan M, Gündüz E, Kesriklioğlu B, Ergen E, Aslantürk O, Özdemir ZM.   +6 more
europepmc   +1 more source

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Cerebrotendinous Xanthomatosis

Neurologic Clinics, 1989
Cerebrotendinous xanthomatosis is a rare familial lipid storage that is caused by a defect in bile acid synthesis. As a result, large amounts of cholestanol, the 5 alpha-dihydro derivative of cholesterol, accumulate in virtually every tissue, with extra large deposits in the nervous system, xanthomas, and bile.
V M, Berginer, G, Salen, S, Shefer
openaire   +3 more sources

Cerebrotendinous xanthomatosis

The Indian Journal of Pediatrics, 2010
We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases.
Mahesh, Kamate, Vivek, Chetal, Virupaxi, Hattiholi   +2 more
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Cerebrotendinous xanthomatosis revisited

Practical Neurology, 2021
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia.
Seyed Mohammad Baghbanian, Mohammad Reza Mahdavi Amiri, Hadi Majidi   +2 more
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Cerebrotendinous xanthomatosis

Current Opinion in Lipidology, 1994
Cerebrotendinous xanthomatosis is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27) gene. Recent cloning and characterization of CYP27 enables further analysis and understanding of the pathophysiology of this multisystem disease.
E, Leitersdorf, V, Meiner
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Update on cerebrotendinous xanthomatosis

Current Opinion in Lipidology, 2021
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 stages.
Andrea E, DeBarber, P Barton, Duell
openaire   +2 more sources