This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Kenneth F. Swaiman, MD

Arch Neurol. 1991;48(12):1285-1293.

Abstract
• Aberrant iron metabolism in the brain is typified by Hallervorden-Spatz syndrome. In this disorder, large amounts of iron are deposited in the globus pallidus and the pars reticulata of the substantia nigra. It is characterized by extrapyramidal dysfunction, as demonstrated by dystonia, rigidity, and choreoathetosis; onset during the first two decades of life; and progression of signs and symptoms. Corroborative findings include corticospinal tract involvement, ie, spasticity and extensor toe signs, progressive intellectual impairment, retinitis pigmentosa and optic atrophy (usually associated visual evoked response and electroretinogram abnormalities), seizures, familial occurrence, hypointense areas in the basal ganglia on magnetic resonance imaging scans (particularly in the substantia nigra), abnormal cytosomes in circulating lymphocytes, and sea-blue histiocytes in bone marrow. Iron function in normal brain metabolism is manifold, but high concentrations of iron in the basal ganglia area may signal a unique relationship. Data support the likelihood that iron plays a role in the modulation of dopamine binding to postsynaptic receptors. In addition, transferrin receptors and iron are also concentrated in oligodendrocytes in normal brain and, thus, may have a function in myelination. A role of iron also seems likely in oxidation and peroxidation reactions involving membranes and DNA, a capability that becomes uncontrolled when protective biologic mechanisms become inadequate.

Author Affiliations
From the Division of Pediatric Neurology, Department of Neurology, University of Minnesota Medical School, Minneapolis.

Footnotes
Accepted for publication May 21, 1991.

Reprint requests to Box 380 Mayo Bldg, 420 Delaware St SE, Minneapolis, MN 55455 (Dr Swaiman).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Susceptibility-Weighted Imaging: Technical Aspects and Clinical Applications, Part 2
Mittal et al.
Am. J. Neuroradiol. 2009;30:232-252.
ABSTRACT | FULL TEXT  

Clinical and genetic delineation of neurodegeneration with brain iron accumulation
Gregory et al.
J. Med. Genet. 2009;46:73-80.
ABSTRACT | FULL TEXT  

Adult-Onset Neurodegeneration With Brain Iron Accumulation and Cortical {alpha}-Synuclein and Tau Pathology: A Distinct Clinicopathological Entity
Tofaris et al.
Arch Neurol 2007;64:280-282.
ABSTRACT | FULL TEXT  

Brain MRI in Neurodegeneration with Brain Iron Accumulation with and without PANK2 Mutations
Hayflick et al.
Am. J. Neuroradiol. 2006;27:1230-1233.
ABSTRACT | FULL TEXT  

Altered Neuronal Mitochondrial Coenzyme A Synthesis in Neurodegeneration with Brain Iron Accumulation Caused by Abnormal Processing, Stability, and Catalytic Activity of Mutant Pantothenate Kinase 2
Kotzbauer et al.
J. Neurosci. 2005;25:689-698.
ABSTRACT | FULL TEXT  

PPAR{alpha} controls the intracellular coenzyme A concentration via regulation of PANK1{alpha} gene expression
Ramaswamy et al.
J. Lipid Res. 2004;45:17-31.
ABSTRACT | FULL TEXT  

Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic
Houlden et al.
Neurology 2003;61:1423-1426.
ABSTRACT | FULL TEXT  

Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
Hayflick et al.
NEJM 2003;348:33-40.
ABSTRACT | FULL TEXT  

Iron in the Brain: An Important Contributor in Normal and Diseased States
Pinero and Connor
Neuroscientist 2000;6:435-453.
ABSTRACT  

Neurodegeneration with Brain Iron Accumulation, Type 1 Is Characterized by {alpha}-, {beta}-, and {gamma}-Synuclein Neuropathology
Galvin et al.
Am. J. Pathol. 2000;157:361-368.
ABSTRACT | FULL TEXT  

Immunocytochemical Development of Transferrin and Ferritin Immunoreactivity in the Human Pons and Cerebellum
Ozawa and Takashima
J Child Neurol 1998;13:59-63.
ABSTRACT  

Hallervorden-Spatz Disease: Late Infantile Type
Singhi and Mitra
J Child Neurol 1997;12:281-282.