Hallervorden-Spatz syndrome.

Abstract:

:The historic and current status of Hallervorden-Spatz syndrome diagnosis, classification, and therapies are discussed. A number of symptomatic therapies are available and should be used optimally for each patient. Although one gene locus has been identified, many patients do not manifest linkage to the NBIA1 locus (neurodegeneration with brain iron accumulation). Further investigation is necessary. The lack of understanding of the basic mechanisms that underlie the syndrome have hindered the development of more meaningful classification and definitive therapies. The recent report of a defect in a novel pantothenate kinase gene (PANK2) in Hallervorden-Spatz syndrome will undoubtedly lead the way to future advances in the diagnosis and management of the syndrome. The clarification of the role of oxidative distress in the pathophysiology of the syndrome will fill a large void in the understanding of the condition.

journal_name

Pediatr Neurol

journal_title

Pediatric neurology

authors

Swaiman KF

doi

10.1016/s0887-8994(01)00253-3

subject

Has Abstract

pub_date

2001-08-01 00:00:00

pages

102-8

issue

2

eissn

0887-8994

issn

1873-5150

pii

S0887-8994(01)00253-3

journal_volume

25

pub_type

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