Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three cases of later onset metachromatic leukodystrophy in one family were reported. The brother is 32 years old, younger sister is 35 years old and the elder sister is 39 years old, who were normal as child without any family history of neurological disease. The three cases began their illness at about the age of 30 years old with dysarthria, progressive dementia, motor disturbance and numbness in the extremities. CT scan showed low density in the white matter of frontal, parietal lobes and around the ventricle. The written reports of CT scan were lacunar infarction in brother, multiple lacunar infarction in younger sister and Binswanger's disease in elder sister. Nerve biopsy showed myelinated fibers were decreased in number. Metachromatical materials were seen in and around the Schwann cell cytoplasm. Metachromatical materials were lamillar inclusions in granular matrix by electromicroscopic examination. So nerve biopsy is easy, safe and effective method to diagnose the uncertain pathogenic leukoence-phalopathy.
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PMID:[Later onset metachromatic leukodystrophy diagnosed by nerve biopsy]. 133 86

We report on a family with a sibship of three children for whom the diagnosis of "an unusual form of metachromatic leukodystrophy (MLD)" had been suggested earlier. The patients had choreiform movements and dystonic posturing accompanied by dysarthria since childhood. The availability of the polymerase chain reaction enabled us to show that the three siblings have a pseudodeficiency genotype (ASAp/ASAp). There was no abnormal sulphatiduria, and we propose that the neurological disease and low arylsulphatase A activity are unrelated to one another in this family. A diagnosis of MLD carries very serious implications, and we recommend that gene amplification by polymerase chain reaction and hybridization with allele-specific oligonucleotide probes should be used to corroborate the diagnosis, especially when there is no abnormal sulphatiduria and when metachromatic material cannot be demonstrated in a sural nerve biopsy.
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PMID:Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy. 167 46

An unusual form of Metachromatic Leukodystrophy (MLD) has been described in three siblings who are the sole children of related parents of Iranian origin. Clinical progression in the three siblings was insidious and protracted, the hallmark of the condition being a dystonia mainly induced by intention and manifested by dysarthria and torsion spasm of the neck, spine and extremities. The dysarthria sometimes culminated in apparent choreoathetosis. Laboratory studies included positive sural nerve biopsies, prolonged nerve conduction times and a marked deficiency of arylsulfatase A in the urine, leukocytes and fibroblasts. The parents presented no clinical manifestations, but the arylsulfatase A activity in both was reduced by 50%.
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PMID:An unusual form of metachromatic leukodystrophy in three siblings. 611 27

The occurrence and genotype-phenotype correlations of the eight most common mutations in the arylsulfatase A (ARSA) gene were studied in 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD). Screening for mutations p.R84Q, p.S96F, c.459+1G>A, p.I179S, p.A212V, c.1204+1G>A, p.P426L, and c.1401-1411del allowed the identification of 53.5% of the mutant alleles. In the whole investigated group of patients, mutations c.459+1G>A and p.P426L were the most frequent, 19 and 17%, respectively. The prevalence of the third most frequent mutation, i.e. p.I179S (13%), seems to be higher than that in other populations. The incidence of c.1204+1G>A was 5%, which is higher than reported earlier (2%). It seems that p.I179S and c.1204+1G>A are more prevalent in MLD patients from Poland than from other countries. In the group examined by us, mutations p.R84Q, p.S96F, p.A212V, and c.1401-1411del were not detected; thus, 46.5% of MLD alleles remained unidentified. This indicates that other, novel or already described, but rare, mutations exist in Polish population. In late infantile homozygotes for c.459+1G>A and one homozygote for c.1204+1G>A, first clinical symptom was motor deterioration. In adult homozygotes for p.P426L, the disease onset manifested as gait disturbances, followed by choreoathetotic movements, difficulties in swallowing, dysarthria, tremor, and nystagmus. In the carriers of the p.I179S mutation, the hallmark of the clinical picture was psychotic disturbances.
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PMID:Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland. 1595 86

A 12-year-old female child with motor developmental delay presented with persistent vomiting, recurrent falls and unsteadiness in dark since 2 years of age. There was decline in scholastic performance, bulbar symptoms and aggravation of symptoms during intercurrent illness. Clinically, she had frontal and parietal lobar dysfunction, dysarthria, optic atrophy and LMN VII, IX, X, XII cranial nerve involvement. There was generalized hypotonia, distal muscle wasting, weakness, cerebellar signs and impaired vibration/position sense in distal extremities. Biochemical investigations revealed elevated serum/cerebrospinal fluid (CSF) lactate and CSF lactate pyruvate ratio. Neuroimaging demonstrated bilateral symmetrical T2 hyperintensities in basal ganglia, subcortical white matter, cerebellar hemispheres and posterior aspect of spinal cord. As certain atypical features like bilateral symmetrical T2 hyperintensities in subcortical white matter were also seen, metachromatic leukodystrophy was considered in differential diagnosis but ruled out by nerve biopsy. This case is reported for the presence of atypical neuroimaging features that are rarely found in Leigh's disease.
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PMID:An interesting case of Leigh-like syndrome. 2334 1