Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy
โ Scribed by Natalia V Olkhovich; Noboru Takamura; Natalia A Pichkur; Natalia G Gorovenko; Kiyoshi Aoyagi; Shunichi Yamashita
- Book ID
- 116987386
- Publisher
- Elsevier Science
- Year
- 2003
- Tongue
- English
- Weight
- 180 KB
- Volume
- 80
- Category
- Article
- ISSN
- 1096-7192
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๐ SIMILAR VOLUMES
A male and female with juvenile metachromatic leukodystrophy (MLD) with unusual manifestations are presented, each involving a novel arylsulfatase A gene mutation. One patient demonstrated acute intermittent encephalopathic episodes for 1 year after having received the diagnosis of MLD at the age of
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder caused by mutations of the arylsulfatase A ( ARSA) gene. We have investigated more than fifty MLD patients using allele-specific PCR assays to detect the pseudodeficiency (PD) allele and several common MLD mutations, followed