Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome

Susan J. Hayflick; Johann M. Penzien; Wolfgang Michl; Uzma M. Sharif; N. Paul Rosman; Patricia G. Wheeler

doi:10.1016/S0887-8994(01)00296-X

Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome

Susan J. Hayflick, Johann M. Penzien, Wolfgang Michl, Uzma M. Sharif, N. Paul Rosman, Patricia G. Wheeler

Molecular and Medical Genetics

Research output: Contribution to journal › Article › peer-review

65 Scopus citations

Abstract

Two families are presented in which siblings of children affected with Hallervorden-Spatz syndrome exhibited characteristic cranial magnetic resonance imaging changes before developing clinical features of the disease. Linkage to a major locus on chromosome 20p supported the diagnosis of Hallervorden-Spatz syndrome. In some patients with Hallervorden-Spatz syndrome, iron is radiographically evident before the onset of clinical symptoms.

Original language	English (US)
Pages (from-to)	166-169
Number of pages	4
Journal	Pediatric Neurology
Volume	25
Issue number	2
DOIs	https://doi.org/10.1016/S0887-8994(01)00296-X
State	Published - 2001

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Neurology
Developmental Neuroscience
Clinical Neurology

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10.1016/S0887-8994(01)00296-X

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title = "Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome",

abstract = "Two families are presented in which siblings of children affected with Hallervorden-Spatz syndrome exhibited characteristic cranial magnetic resonance imaging changes before developing clinical features of the disease. Linkage to a major locus on chromosome 20p supported the diagnosis of Hallervorden-Spatz syndrome. In some patients with Hallervorden-Spatz syndrome, iron is radiographically evident before the onset of clinical symptoms.",

author = "Hayflick, {Susan J.} and Penzien, {Johann M.} and Wolfgang Michl and Sharif, {Uzma M.} and Rosman, {N. Paul} and Wheeler, {Patricia G.}",

note = "Funding Information: The authors thank the families with Hallervorden-Spatz syndrome, without whom this study could not have been performed. A. Malone and S. Bae provided valuable technical assistance. This work was supported in part by NIH grants 1R01 EY12353 and 5K23 EY00348 to SJH.",

year = "2001",

doi = "10.1016/S0887-8994(01)00296-X",

language = "English (US)",

volume = "25",

pages = "166--169",

journal = "Pediatric Neurology",

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T1 - Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome

AU - Hayflick, Susan J.

AU - Penzien, Johann M.

AU - Michl, Wolfgang

AU - Sharif, Uzma M.

AU - Rosman, N. Paul

AU - Wheeler, Patricia G.

N1 - Funding Information: The authors thank the families with Hallervorden-Spatz syndrome, without whom this study could not have been performed. A. Malone and S. Bae provided valuable technical assistance. This work was supported in part by NIH grants 1R01 EY12353 and 5K23 EY00348 to SJH.

PY - 2001

Y1 - 2001

N2 - Two families are presented in which siblings of children affected with Hallervorden-Spatz syndrome exhibited characteristic cranial magnetic resonance imaging changes before developing clinical features of the disease. Linkage to a major locus on chromosome 20p supported the diagnosis of Hallervorden-Spatz syndrome. In some patients with Hallervorden-Spatz syndrome, iron is radiographically evident before the onset of clinical symptoms.

AB - Two families are presented in which siblings of children affected with Hallervorden-Spatz syndrome exhibited characteristic cranial magnetic resonance imaging changes before developing clinical features of the disease. Linkage to a major locus on chromosome 20p supported the diagnosis of Hallervorden-Spatz syndrome. In some patients with Hallervorden-Spatz syndrome, iron is radiographically evident before the onset of clinical symptoms.

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JO - Pediatric Neurology

JF - Pediatric Neurology

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ER -

Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome

Abstract

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