Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings

被引：19

作者：

Zolkipli, Zarazuela

Dahmoush, Hisham

Saunders, Dawn E.

Chong, W. K. Kling

Surtees, Robert

机构：

[1] Great Ormond St Hosp Children NHS Trust, Dept Neurol, London WC1N 3JH, England

[2] Great Ormond St Hosp Children NHS Trust, Dept Neuroradiol, London WC1N 3JH, England

来源：

PEDIATRIC RADIOLOGY | 2006年 / 36卷 / 08期

关键词：

dystonia; 'eye-of-the-tiger' sign; PANK2; mutation; pantothenate kinase associated neurodegeneration; MRI; children;

D O I：

10.1007/s00247-006-0205-3

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

It has been postulated that all patients with pantothenate kinase 2 (PANK2) mutations causing pantothenate-kinase-associated neurodegeneration (PKAN) are associated with the 'eye-of-the-tiger' sign on MRI. We report a pair of siblings who presented with dystonia and who have been found to be homozygous for 104C > A, S35X mutation, confirming the diagnosis of PKAN. They do not have the typical iron deposition in the globi pallida or substantia nigra on MR imaging.

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收藏

页码：884 / 886

页数：3

相关论文

共 11 条

[1] The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome [J].

Baumeister, FAM ;

Auer, DP ;

Hörtnagel, K ;

Freisinger, P ;

Meitinger, T .

NEUROPEDIATRICS, 2005, 36 (03) :221-222

[2]

DOOLING EC, 1974, ARCH NEUROL-CHICAGO, V30, P70, DOI 10.1001/archneur.1974.00490310072012

[3] Neurodegeneration with brain iron accumulation, type 1 is characterized by α-, β-, and γ-synuclein neuropathology [J].

Galvin, JE ;

Giasson, B ;

Hurtig, HI ;

Lee, VMY ;

Trojanowski, JQ .

AMERICAN JOURNAL OF PATHOLOGY, 2000, 157 (02) :361-368

[4] The nosology of Hallervorden-Spatz disease [J].

Halliday, W .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1995, 134 :84-91

[5] Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. [J].

Hayflick, SJ ;

Westaway, SK ;

Levinson, B ;

Zhou, B ;

Johnson, MA ;

Ching, KHL ;

Gitschier, J .

NEW ENGLAND JOURNAL OF MEDICINE, 2003, 348 (01) :33-40

[6]

HAYFLICK SJ, 2002, GENETICS MOVEMENT DI, P429

[7]

SAVOIARDO M, 1993, AM J NEURORADIOL, V14, P155

[8] Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13 [J].

Taylor, TD ;

Litt, M ;

Kramer, P ;

Pandolfo, M ;

Angelini, L ;

Nardocci, N ;

Davis, S ;

Pineda, M ;

Hattori, H ;

Flett, PJ ;

Cilio, MR ;

Bertini, E ;

Hayflick, SJ .

NATURE GENETICS, 1996, 14 (04) :479-481

[9] Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration [J].

Thomas, M ;

Hayflick, SJ ;

Jankovic, J .

MOVEMENT DISORDERS, 2004, 19 (01) :36-42

[10] Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern [J].

Valentino, P ;

Annesi, G ;

Candiano, ICC ;

Annesi, F ;

Civitelli, D ;

Tarantino, P ;

Naso, F ;

Spadafora, P ;

Carrideo, S ;

De Marco, EV ;

Consoli, D ;

Zappia, M ;

Gambardella, A ;

Quattrone, A .

MOVEMENT DISORDERS, 2006, 21 (02) :252-254