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Your search keyword '"Molzer, B."' showing total 4 results
Start Over Author "Molzer, B." Journal european neurology
4 results on '"Molzer, B."'

1. Multiple sclerosis-like syndrome in a woman heterozygous for adrenoleukodystrophy

Author

Millner M, Ebner F, Molzer B, Moser Hw, Sylvia Stöckler, and Körner E

Subjects
Adult, Pathology, medicine.medical_specialty, Heterozygote, Multiple Sclerosis, Diagnostico diferencial, Asymptomatic, Diagnosis, Differential, Blurred vision, medicine, Humans, Brain magnetic resonance imaging, MULTIPLE SCLEROSIS-LIKE SYNDROME, Adrenoleukodystrophy, Evoked Potentials, Cerebral white matter, business.industry, Multiple sclerosis, Fatty Acids, Fibroblasts, medicine.disease, Magnetic Resonance Imaging, Neurology, Female, Neurology (clinical), medicine.symptom, business
Abstract

A 28-year-old asymptomatic woman was diagnosed to be heterozygous for adrenoleukodystrophy (ALD) by elevated very long-chain fatty acids in serum and fibroblasts after ADL had been diagnosed in her son. A year later she had transient unilateral blurred vision. Evoked potentials and brain magnetic resonance imaging showed further separate cerebral white matter lesions suggesting multiple sclerosis (MS). MS-like syndromes in women heterozygous for ALD may be more frequent than previously recognized.

Published
1993

3. Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland.

Author

Lugowska A, Czartoryska B, Tylki-Szymańska A, Bisko M, Zimowski JG, Berger J, and Molzer B

Subjects
Female, Humans, Poland epidemiology, Prevalence, Alleles, Cerebroside-Sulfatase deficiency, Cerebroside-Sulfatase genetics, Leukodystrophy, Metachromatic epidemiology, Leukodystrophy, Metachromatic genetics
Abstract

Arylsulfatase A (ASA) pseudodeficiency (PD) allele was searched for in 22 patients originating from Poland and suffering from different types of metachromatic leukodystrophy (MLD). Four of them carried the PD allele in a heterozygous state. The prevalence of the PD allele among investigated MLD patients was revealed to be 9%, while the frequency of the PD allele in healthy controls was estimated at 6-7%. One of the examined MLD patients was additionally a carrier of an isolated mutation leading to the loss of the N-glycosylation site. The question arises whether and how MLD mutations create a convenient milieu for PD mutations to occur (or inversely)., (Copyright 2000 S. Karger AG, Basel)

Published
2000
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4. Multiple sclerosis-like syndrome in a woman heterozygous for adrenoleukodystrophy.

Author

Stöckler S, Millner M, Molzer B, Ebner F, Körner E, and Moser HW

Subjects
Adrenoleukodystrophy genetics, Adult, Diagnosis, Differential, Evoked Potentials, Fatty Acids metabolism, Female, Fibroblasts metabolism, Heterozygote, Humans, Magnetic Resonance Imaging, Adrenoleukodystrophy diagnosis, Multiple Sclerosis diagnosis
Abstract

A 28-year-old asymptomatic woman was diagnosed to be heterozygous for adrenoleukodystrophy (ALD) by elevated very long-chain fatty acids in serum and fibroblasts after ADL had been diagnosed in her son. A year later she had transient unilateral blurred vision. Evoked potentials and brain magnetic resonance imaging showed further separate cerebral white matter lesions suggesting multiple sclerosis (MS). MS-like syndromes in women heterozygous for ALD may be more frequent than previously recognized.

Published
1993
Full Text
View/download PDF

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