Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy
โ Scribed by M. Bertelli; S. Gallo; A. Buda; S. Cecchin; A. Fabbri; C. Lapucci; G. Andrighetto; V. Sidoti; L. Lorusso; M. Pandolfo
- Book ID
- 116673657
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 96 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0967-5868
No coin nor oath required. For personal study only.
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