Results 131 to 140 of about 2,521 (182)

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

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

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

Cerebrotendinous xanthomatosis

Journal of the American Academy of Dermatology, 2001
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene. The accumulation of cholestanol in various tissues characterizes this disease. Diagnosis is based on determination of urinary bile alcohols.
S, Bel, V, García-Patos, L, Rodríguez, A, Selva, P, Díaz, B G, Wolthers, A, Castells   +6 more
core   +5 more sources

Cerebrotendinous xanthomatosis

, 2015
A case of cerebrotendinous xanthomatosis in an Indonesian male, 25 years of age, is reported. The diagnosis was based on clinical features, laboratory and histopathologic examinations, without measurement of cholestanal concentration either in the plasma or in the xanthoma.Key Words: xanthoma - normolipidemia lipoidosis - cataracta juvenilis ...
Soedarmadji, Soedarmadji
core   +3 more sources

Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis

Journal of the Neurological Sciences, 1995
We report reduced respiratory chain enzyme activity in isolated muscle mitochondria and high levels of serum and CSF pyruvate and lactate in a case of cerebrotendinous xanthomatosis.
Maria Teresa Dotti, Antonio Federico
exaly   +2 more sources

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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

New England Journal of Medicine, 1968
TENDINOUS and tuberous xanthomas have been almost exclusively associated with hyperlipidemic states. Such lesions have been studied intensively for the past 100 years, but only in very rare instances are they associated with similar xanthomatous lesions of the central nervous system (CNS).
J R, Schimschock, E C, Alvord, P D, Swanson   +2 more
openaire   +4 more sources

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
openaire   +2 more sources