Hallervorden-Spatz Syndrome (PKAN)

S. J. Hayflick

doi:10.1016/B978-0-12-374105-9.00124-6

Hallervorden-Spatz Syndrome (PKAN)

S. J. Hayflick

Molecular and Medical Genetics

Research output: Chapter in Book/Report/Conference proceeding › Chapter

1 Scopus citations

Abstract

Hallervorden-Spatz syndrome is a genetic disorder associated with brain iron accumulation. The features include dystonia, dysarthria, pigmentary retinopathy, and characteristic MRI changes. Mutations in the gene encoding pantothenate kinase 2 underlie this disorder, now referred to as pantothenate kinase-associated neurodegeneration or PKAN. Although treatment remains palliative, rational therapeutics are being explored.

Original language	English (US)
Title of host publication	Encyclopedia of Movement Disorders
Publisher	Elsevier Inc.
Pages	1-3
Number of pages	3
ISBN (Electronic)	9780123741059
ISBN (Print)	9780123741011
DOIs	https://doi.org/10.1016/B978-0-12-374105-9.00124-6
State	Published - Jan 1 2010

Keywords

Axonal spheroids
Brain iron
Coenzyme A
Globus pallidus
Hallervorden-Spatz syndrome
PANK2
Pantothenate kinase-associated neurodegeneration (PKAN)

ASJC Scopus subject areas

General Medicine
General Neuroscience

Access to Document

10.1016/B978-0-12-374105-9.00124-6

Cite this

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abstract = "Hallervorden-Spatz syndrome is a genetic disorder associated with brain iron accumulation. The features include dystonia, dysarthria, pigmentary retinopathy, and characteristic MRI changes. Mutations in the gene encoding pantothenate kinase 2 underlie this disorder, now referred to as pantothenate kinase-associated neurodegeneration or PKAN. Although treatment remains palliative, rational therapeutics are being explored.",

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AB - Hallervorden-Spatz syndrome is a genetic disorder associated with brain iron accumulation. The features include dystonia, dysarthria, pigmentary retinopathy, and characteristic MRI changes. Mutations in the gene encoding pantothenate kinase 2 underlie this disorder, now referred to as pantothenate kinase-associated neurodegeneration or PKAN. Although treatment remains palliative, rational therapeutics are being explored.

KW - Axonal spheroids

KW - Brain iron

KW - Coenzyme A

KW - Globus pallidus

KW - Hallervorden-Spatz syndrome

KW - PANK2

KW - Pantothenate kinase-associated neurodegeneration (PKAN)

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BT - Encyclopedia of Movement Disorders

PB - Elsevier Inc.

ER -

Hallervorden-Spatz Syndrome (PKAN)

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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