Classical case of late-infantile form of metachromatic leukodystrophy
نویسندگان
چکیده
منابع مشابه
Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.
Metachromatic leukodystrophy (MLD; MIM 250100), a severe neurodegenerative disorder inherited as an autosomal recessive trait, is caused by mutations in the arylsulfatase A (ARSA) gene. Although several germ line ARSA mutations have been identified in patients with MLD of various ethnic backgrounds elsewhere in the world, no genetically confirmed cases of MLD have been reported in Korea. Recent...
متن کاملcausing late infantile metachromatic leucodystrophy
Received 3 November 1993 Revised version accepted for publication 28 March 1994 Abstract Metachromatic leucodystrophy is an autosomal recessive degenerative disease of the nervous system caused by the deficiency of the lysosomal enzyme arylsulphatase A (ARSA). We report here on the high incidence of late infantile MLD among Muslim Arabs originating from Jerusalem, most probably because of a fou...
متن کاملLate infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia
BACKGROUND This study was conducted to describe the clinical and genetic features of patients with late infantile metachromatic leukodystrophy. METHODS Clinical and genetic manifestations of five Taiwanese patients with late infantile metachromatic leukodystrophy from January 2003 to April 2014 were reviewed. The genetic features of such patients reported in Asian countries during a period of...
متن کاملInfantile metachromatic leukodystrophy in an 18 month old girl.
Metachromatic leukodystrophy is a rarely occurring neurodegenerative metabolic disorder with an incidence of 1-9 individuals out of 1,000,000. We present a similar case in an eighteen month old child which was extremely challenging to diagnose. Clinical symptoms suggested motor regression and developmental delay which gave rise to suspicion of a neurodegenerative disorder. An MRI scan of the br...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Neurosciences in Rural Practice
سال: 2016
ISSN: 0976-3147,0976-3155
DOI: 10.4103/0976-3147.181482