Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations

被引：60

作者：

Sicotte, N. L.

Salamon, G.

Shattuck, D. W.

Hageman, N.

Rueb, U.

Salamon, N.

Drain, A. E.

Demer, J. L.

Engle, E. C.

Alger, J. R.

Baloh, R. W.

Deller, T.

Jen, J. C.

机构：

[1] Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA USA

[2] Univ Calif Los Angeles, Div Brain Mapping, Los Angeles, CA USA

[3] Univ Calif Los Angeles, Lab Neuro Imaging, Los Angeles, CA USA

[4] Univ Calif Los Angeles, Dept Radiol, Los Angeles, CA USA

[5] Univ Calif Los Angeles, Dept Ophthalmol, Los Angeles, CA USA

[6] Univ Calif Los Angeles, Dept Neurosci, Los Angeles, CA USA

[7] Univ Calif Los Angeles, Dept Bioengn, Los Angeles, CA USA

[8] Univ Calif Los Angeles, Interdept Program, Los Angeles, CA USA

[9] JW Goethe Univ, Inst Clin Neuroanat, Frankfurt, Germany

[10] Harvard Univ, Sch Med, Boston, MA USA

[11] Childrens Hosp, Boston, MA USA

来源：

NEUROLOGY | 2006年 / 67卷 / 03期

关键词：

D O I：

10.1212/01.wnl.0000227960.38262.0c

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Horizontal gaze palsy with progressive scoliosis ( HGPPS) is caused by mutations in the ROBO3 gene, critical for the crossing of long ascending medial lemniscal and descending corticospinal tracts in the medulla. Diffusion tensor imaging in a patient with HGGPS revealed the absence of major pontine crossing fiber tracts and no decussation of the superior cerebellar peduncles. Mutations in the ROBO3 gene lead to a widespread lack of crossing fibers throughout the brainstem.

引用

页码：519 / 521

页数：3

共 11 条

[1]

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome [J].

Ferland, RJ ;

Eyaid, W ;

Collura, RV ;

Tully, LD ;

Hill, RS ;

Al-Nouri, D ;

Al-Rumayyan, A ;

Topcu, M ;

Gascon, G ;

Bodell, A ;

Shugart, YY ;

Ruvolo, M ;

Walsh, CA .

NATURE GENETICS, 2004, 36 (09) :1008-1013

[2]

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis [J].

Jen, JC ;

Chan, WM ;

Bosley, TM ;

Wan, JJ ;

Carr, JR ;

Rüb, U ;

Shattuck, D ;

Salamon, G ;

Kudo, LC ;

Ou, J ;

Lin, DDM ;

Salih, MAM ;

Kansu, T ;

al Dhalaan, H ;

al Zayed, Z ;

MacDonald, DB ;

Stigsby, B ;

Plaitakis, A ;

Dretakis, EK ;

Gottlob, I ;

Pieh, C ;

Traboulsi, EI ;

Wang, Q ;

Wang, LJ ;

Andrews, C ;

Yamada, K ;

Demer, JL ;

Karim, S ;

Alger, JR ;

Geschwind, DH ;

Deller, T ;

Sicotte, NL ;

Nelson, SF ;

Baloh, RW ;

Engle, EC .

SCIENCE, 2004, 304 (5676) :1509-1513

[3]

Intraoperative neurophysiologic discovery of uncrossed sensory and motor pathways in a patient with horizontal gaze palsy and scoliosis [J].

MacDonald, DB ;

Streletz, LJ ;

Al-Zayed, Z ;

Abdool, S ;

Stigsby, B .

CLINICAL NEUROPHYSIOLOGY, 2004, 115 (03) :576-582

[4]

The slit receptor Rig-1/Robo3 controls midline crossing by hindbrain precerebellar neurons and axons [J].

Marillat, V ;

Sabatier, C ;

Failli, V ;

Matsunaga, E ;

Sotelo, C ;

Tessier-Lavigne, M ;

Chédotal, A .

NEURON, 2004, 43 (01) :69-79

[5]

Partially uncrossed pyramidal tracts shown by tractography in horizontal gaze palsy and scoliosis [J].

Mori, H ;

Fijishiro, T ;

Hayashi, N ;

Masutani, Y ;

Aoki, S ;

Ohtomo, K ;

Aihara, M ;

Wakakura, M .

AMERICAN JOURNAL OF ROENTGENOLOGY, 2005, 184 (03) :S4-S6

[6]

Nieuwenhuys R., 1998, CENTRAL NERVOUS SYST

[7]

Pajevic S, 1999, MAGNET RESON MED, V42, P526, DOI 10.1002/(SICI)1522-2594(199909)42:3<526::AID-MRM15>3.0.CO

[8]

2-J

[9]

Analysis of the brain-stem white-matter tracts with diffusion tensor imaging [J].

Salamon, N ;

Sicotte, N ;

Alger, J ;

Shattuck, D ;

Perlman, S ;

Sinha, U ;

Schultze-Haakh, H ;

Salamon, G .

NEURORADIOLOGY, 2005, 47 (12) :895-902

[10]

MUTATIONS AFFECTING GROWTH CONE GUIDANCE IN DROSOPHILA - GENES NECESSARY FOR GUIDANCE TOWARD OR AWAY FROM THE MIDLINE [J].

SEEGER, M ;

TEAR, G ;

FERRESMARCO, D ;

GOODMAN, CS .

NEURON, 1993, 10 (03) :409-426

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