Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation

被引：163

作者：

Kruer, M. C. ^{[1
,2
,3
,10
]}

Boddaert, N. ^{[11
]}

Schneider, S. A. ^{[12
]}

Houlden, H. ^{[13
,14
]}

Bhatia, K. P. ^{[15
]}

Gregory, A. ^{[4
]}

Anderson, J. C. ^{[5
]}

Rooney, W. D. ^{[6
,7
,8
]}

Hogarth, P. ^{[4
,9
]}

Hayflick, S. J. ^{[4
,10
]}

机构：

[1] Univ S Dakota, Dept Pediat, Sanford Childrens Res Ctr, Sanford Coll Med, Sioux Falls, SD 57104 USA

[2] Univ S Dakota, Sanford Coll Med, Dept Neurol, Sanford Childrens Res Ctr, Sioux Falls, SD 57104 USA

[3] Univ S Dakota, Dept Neurosci, Sanford Childrens Res Ctr, Sanford Coll Med, Sioux Falls, SD 57104 USA

[4] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA

[5] Oregon Hlth & Sci Univ, Div Neuroradiol, Portland, OR 97201 USA

[6] Oregon Hlth & Sci Univ, Dept Radiol, WM Keck Fdn High Field MRI Lab, Adv Imaging Res Ctr, Portland, OR 97201 USA

[7] Oregon Hlth & Sci Univ, Dept Biomed Engn, Portland, OR 97201 USA

[8] Oregon Hlth & Sci Univ, Dept Behav Neurosci, Portland, OR USA

[9] Oregon Hlth & Sci Univ, Dept Neurol, Portland, OR 97201 USA

[10] Oregon Hlth & Sci Univ, Dept Pediat, Portland, OR 97201 USA

[11] Univ Paris 05, Hop Necker Enfants Malad, Dept Pediat Radiol, Inst Natl Sante & Rech Med U1000, Paris, France

[12] Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, Germany

[13] UCL, Inst Neurol, Dept Mol Neurosci, London, England

[14] UCL, Inst Neurol, Reta Lila Weston Inst, London, England

[15] UCL, Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London, England

来源：

AMERICAN JOURNAL OF NEURORADIOLOGY | 2012年 / 33卷 / 03期

基金：

美国国家卫生研究院; 英国医学研究理事会;

关键词：

KINASE-ASSOCIATED NEURODEGENERATION; HALLERVORDEN-SPATZ-SYNDROME; THE-TIGER SIGN; DYSTONIA-PARKINSONISM; PHOSPHOLIPASE A(2); ATP13A2; MUTATIONS; DISEASE; MRI; PLA2G6; PANK2;

D O I：

10.3174/ajnr.A2677

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

NBIA characterizes a class of neurodegenerative diseases that feature a prominent extrapyramidal movement disorder, intellectual deterioration, and a characteristic deposition of iron in the basal ganglia. The diagnosis of NBIA is made on the basis of the combination of representative clinical features along with MR imaging evidence of iron accumulation. In many cases, confirmatory molecular genetic testing is now available as well. A number of new subtypes of NBIA have recently been described, with distinct neuroradiologic and clinical features. This article outlines the known subtypes of NBIA, delineates their clinical and radiographic features, and suggests an algorithm for evaluation.

引用

页码：407 / 414

页数：8

共 42 条

[1] Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome [J].