Metachromatic leukodystrophy with schizophrenia-like onset (literature review and clinical case)
نویسندگان
چکیده
منابع مشابه
Metachromatic Leukodystrophy Clinical, Biological and Therapeutic Aspects
Scholz’s disease or metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a deficiency in arylsulfatase A (ARSA: EC 3.1.6.8). This enzyme is responsible for the degradation of sulfatides commonly called cerebroside-3-sulfate or 3-O sulfogalactosylceramide in galactocerebroside and sulfate. The success of hydrolysis of these sphingolipids by ARSA necessarily depends on the ...
متن کاملLate-onset metachromatic leukodystrophy: genotype strongly influences phenotype.
BACKGROUND P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic leukodystrophy (late-onset MLD), which, in contrast to infantile MLD, show marked phenotypic heterogeneity. OBJECTIVE To search for genotype-phenotype correlations in late-onset MLD. METHODS The authors reviewed the clinical course of 22 patients homozygous for mutation P426L vs 20 patients he...
متن کاملAdult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and postpartum depression in 2 sisters.
We describe the cases of 2 sisters with adult metachromatic leukodystrophy (MLD). Whereas one sister presented with disorganized schizophrenia-like symptoms as the initial manifestation of MLD, the other remained symptom free except for a 4-week period of postpartum depression. In both patients, there was some residual activity of leukocyte arylsulfatase A (1.7% and 5.5% of normal), and a marke...
متن کاملClinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.
OBJECTIVE To determine the clinical symptoms in adult metachromatic leukodystrophy and in adult pseudodeficiency for arylsulfatase A. DESIGN Case series. SETTING University hospital. PATIENTS Twenty-five adult patients with very low arylsulfatase A activity. RESULTS In 13 patients, a diagnosis of adult metachromatic leukodystrophy was made. The main symptoms were dementia, behavioral ab...
متن کاملMR of childhood metachromatic leukodystrophy.
PURPOSE To investigate the MR findings of childhood metachromatic leukodystrophy (MLD). METHODS Nine MR imaging studies in seven children (five girls and two boys, 10 to 32 months old) with MLD were evaluated retrospectively for the extent and progression of white matter abnormalities and the presence of contrast enhancement. RESULTS All seven cases showed symmetric, confluent high signal i...
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ژورنال
عنوان ژورنال: INTERNATIONAL NEUROLOGICAL JOURNAL
سال: 2018
ISSN: 2307-1419,2224-0713
DOI: 10.22141/2224-0713.3.97.2018.133681