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Hoshita Takahiko - One of the best experts on this subject based on the ideXlab platform.
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radioimmunoassay of 5β cholestane 3α 7α 12α 25 tetrol 3 glucuronide in serum of patients with cerebrotendinous Xanthomatosis
Steroids, 1992Co-Authors: Une Mizuho, Nakata Yoshihiro, Hoshita TakahikoAbstract:Abstract A rapid, convenient, and specific radioimmunoassay for 5β-cholestane-3α,7α, 12α,25-tetrol has been developed. Specific antiserum was obtained from rabbits immunized by the bile alcohol-bovine serum albumin conjugate, which was coupled by an (O-carboxymethyl)oxime bridge at the C-3 position. The assay produces values for serum concentrations of bile alcohol glucuronides in patients with cerebrotendinous Xanthomatosis.
Aad Verrips - One of the best experts on this subject based on the ideXlab platform.
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Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis
Pediatric Neurology, 2017Co-Authors: Bianca M. L. Stelten, Ron A Wevers, Marjo S. Van Der Knaap, Aad VerripsAbstract:Abstract Background This report highlights the differential diagnosis of predominant cerebellar white matter abnormalities with dentate nuclei involvement. Patient description We describe two individuals with Langerhans cell histiocytosis in whom the diagnosis of cerebrotendinous Xanthomatosis was initially considered. The clinical picture consisted of a progressive cerebellar syndrome with typical magnetic resonance imaging abnormalities. In both individuals, the cerebellar syndrome preceded the diagnosis of Langerhans cell histiocytosis. Conclusions The magnetic resonance imaging abnormalities and neurological features in patients with Langerhans cell histiocytosis can be strikingly similar to those with cerebrotendinous Xanthomatosis. In cerebrotendinous Xanthomatosis, the cerebellar symptoms and cerebellar white matter abnormalities are usually seen in adult patients. In a pediatric patient with a cerebellar syndrome, showing these cerebellar white matter abnormalities a diagnosis of Langerhans cell histiocytosis is more likely.
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spinal Xanthomatosis a variant of cerebrotendinous Xanthomatosis
Brain, 1999Co-Authors: Aad Verrips, Ron A Wevers, B G M Van Engelen, G J Nijeholt, Frederik Barkhof, Pieter Wesseling, J A F M Luyten, J Stam, J H J Wokke, J P Van Den HeuvelAbstract:We describe seven Dutch patients from six families with a slowly progressive, mainly spinal cord syndrome that remained for many years the sole expression of cerebrotendinous Xanthomatosis (CTX). MRI demonstrated white matter abnormalities in the lateral and dorsal columns of the spinal cord. Post-mortem examination of one of the patients showed extensive myelin loss in these columns. An array of genotypes was found in these patients. We conclude that 'spinal Xanthomatosis' is a clinical and radiological separate entity of CTX that should be included in the differential diagnosis of 'chronic myelopathy'.
Ron A Wevers - One of the best experts on this subject based on the ideXlab platform.
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cerebrotendinous Xanthomatosis without neurological involvement
Journal of Internal Medicine, 2021Co-Authors: Bianca M. L. Stelten, Ron A Wevers, Frederick J Raal, A D Marais, Niels P Riksen, J Roeters E Van Lennep, P B Duell, M Van Der Graaf, Leo A J Kluijtmans, A VerripsAbstract:Background Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism. Neurological symptoms are considered to be a clinical hallmark of untreated adult patients. We describe a 'milder CTX phenotype', without neurological involvement. Methods We performed a retrospective patient file study in 79 genetically confirmed Dutch patients with CTX (55 patients aged ≥ 21 years) to study the clinical heterogeneity of CTX. We studied the frequency of adult patients with CTX without neurological involvement at diagnosis, in our Dutch cohort, and included a family from South Africa and patients from Italy, USA, Chile and Asia from the literature. Results In total, we describe 19 adult patients with CTX from 16 independent families, without neurological symptoms at diagnosis. A relatively small percentage (21%, n = 4) had a history of cataract. The majority, 84% (n = 16), presented with tendon xanthomas as the sole or predominant feature. The majority of patients showed increased plasma cholesterol levels. No correlation was found between this 'milder phenotype', the cholestanol levels and the CYP27A1 genotype. In addition, we describe three novel mutations in the CYP27A1 gene. Conclusions This study shows the clinical heterogeneity of CTX, highlighting the existence of a 'milder phenotype', that is without neurological involvement at diagnosis. Adult patients with CTX may present with tendon xanthomas as the sole or predominant feature, mimicking familial hypercholesterolemia. It is important to realize that the absence of neurological symptoms does not rule out the development of future neurological symptoms. As CTX is a treatable disorder, early diagnosis and initiation of treatment when additional clinical signs occur is therefore essential.
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Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis
Pediatric Neurology, 2017Co-Authors: Bianca M. L. Stelten, Ron A Wevers, Marjo S. Van Der Knaap, Aad VerripsAbstract:Abstract Background This report highlights the differential diagnosis of predominant cerebellar white matter abnormalities with dentate nuclei involvement. Patient description We describe two individuals with Langerhans cell histiocytosis in whom the diagnosis of cerebrotendinous Xanthomatosis was initially considered. The clinical picture consisted of a progressive cerebellar syndrome with typical magnetic resonance imaging abnormalities. In both individuals, the cerebellar syndrome preceded the diagnosis of Langerhans cell histiocytosis. Conclusions The magnetic resonance imaging abnormalities and neurological features in patients with Langerhans cell histiocytosis can be strikingly similar to those with cerebrotendinous Xanthomatosis. In cerebrotendinous Xanthomatosis, the cerebellar symptoms and cerebellar white matter abnormalities are usually seen in adult patients. In a pediatric patient with a cerebellar syndrome, showing these cerebellar white matter abnormalities a diagnosis of Langerhans cell histiocytosis is more likely.
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spinal Xanthomatosis a variant of cerebrotendinous Xanthomatosis
Brain, 1999Co-Authors: Aad Verrips, Ron A Wevers, B G M Van Engelen, G J Nijeholt, Frederik Barkhof, Pieter Wesseling, J A F M Luyten, J Stam, J H J Wokke, J P Van Den HeuvelAbstract:We describe seven Dutch patients from six families with a slowly progressive, mainly spinal cord syndrome that remained for many years the sole expression of cerebrotendinous Xanthomatosis (CTX). MRI demonstrated white matter abnormalities in the lateral and dorsal columns of the spinal cord. Post-mortem examination of one of the patients showed extensive myelin loss in these columns. An array of genotypes was found in these patients. We conclude that 'spinal Xanthomatosis' is a clinical and radiological separate entity of CTX that should be included in the differential diagnosis of 'chronic myelopathy'.
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ocular and systemic manifestations of cerebrotendinous Xanthomatosis
American Journal of Ophthalmology, 1995Co-Authors: J R M Cruysberg, Ron A Wevers, B G M Van Engelen, A J L G Pinckers, A C G A Van Spreeken, J J M TolboomAbstract:Purpose Cerebrotendinous Xanthomatosis is a storage disease that usually leads to severe mental and neurologic deterioration before the diagnosis and start of treatment are established. We identified major ocular and systemic characteristics that may enable a diagnosis to be made earlier. Methods Ten patients (group 1) of the University Hospital Nijmegen, with a diagnosis of cerebrotendinous Xanthomatosis, were re-examined for detailed ocular and major clinical manifestations. Meanwhile, we looked for similar but undiagnosed cases in patients (group 2) who visited the Institute of Ophthalmology during a 12-month period. Results A diagnosis of cerebrotendinous Xanthomatosis had been made in the patients of group 1 at an average age of 40 years (range, 33 to 48 years). Subsequently, six new cases (group 2) were diagnosed in patients 7 to 37 years old (average age, 18 years). Bilateral cataract was the major ocular manifestation in all 16 patients. Small irregular corticonuclear opacities, anterior polar cataracts, and dense posterior subcapsular cataracts were diagnosed at various ages (mean, 18 years; range, 4 to 40 years). Four patients showed clinical signs of optic neuropathy, whereas retinal function was normal in all patients. Other major clinical signs included a history of chronic diarrhea (since childhood), mental deterioration (mean age, 23 years), neurologic deterioration (mean age, 31 years), and tendon xanthomas (mean age, 37 years). Conclusions Appropriate biochemical investigations for cerebrotendinous Xanthomatosis should be performed in patients with unexplained juvenile or early-onset adult cataracts, especially if these cataracts are associated with chronic diarrhea since infancy, mental retardation or deterioration, neurologic dysfunction, or xanthomas.
Une Mizuho - One of the best experts on this subject based on the ideXlab platform.
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radioimmunoassay of 5β cholestane 3α 7α 12α 25 tetrol 3 glucuronide in serum of patients with cerebrotendinous Xanthomatosis
Steroids, 1992Co-Authors: Une Mizuho, Nakata Yoshihiro, Hoshita TakahikoAbstract:Abstract A rapid, convenient, and specific radioimmunoassay for 5β-cholestane-3α,7α, 12α,25-tetrol has been developed. Specific antiserum was obtained from rabbits immunized by the bile alcohol-bovine serum albumin conjugate, which was coupled by an (O-carboxymethyl)oxime bridge at the C-3 position. The assay produces values for serum concentrations of bile alcohol glucuronides in patients with cerebrotendinous Xanthomatosis.
Nakata Yoshihiro - One of the best experts on this subject based on the ideXlab platform.
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radioimmunoassay of 5β cholestane 3α 7α 12α 25 tetrol 3 glucuronide in serum of patients with cerebrotendinous Xanthomatosis
Steroids, 1992Co-Authors: Une Mizuho, Nakata Yoshihiro, Hoshita TakahikoAbstract:Abstract A rapid, convenient, and specific radioimmunoassay for 5β-cholestane-3α,7α, 12α,25-tetrol has been developed. Specific antiserum was obtained from rabbits immunized by the bile alcohol-bovine serum albumin conjugate, which was coupled by an (O-carboxymethyl)oxime bridge at the C-3 position. The assay produces values for serum concentrations of bile alcohol glucuronides in patients with cerebrotendinous Xanthomatosis.
