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

N. L. Sicotte; G. Salamon; D. W. Shattuck; N. Hageman; U. Rüb; N. Salamon; A. E. Drain; J. L. Demer; E. C. Engle; J. R. Alger; R. W. Baloh; T. Deller; J. C. Jen

doi:10.1212/01.wnl.0000227960.38262.0c

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

N. L. Sicotte
, G. Salamon
, D. W. Shattuck
, N. Hageman
, U. Rüb
, N. Salamon
, A. E. Drain
, J. L. Demer
, E. C. Engle
, J. R. Alger
, R. W. Baloh
, T. Deller
, J. C. Jen

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

82 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	519-521
Number of pages	3
Journal	Neurology
Volume	67
Issue number	3
DOIs	https://doi.org/10.1212/01.wnl.0000227960.38262.0c
State	Published - Aug 2006
Externally published	Yes

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title = "Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations",

abstract = "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.",

author = "Sicotte, \{N. L.\} and G. Salamon and Shattuck, \{D. W.\} and N. Hageman and U. R{\"u}b and N. Salamon and Drain, \{A. E.\} and Demer, \{J. L.\} and Engle, \{E. C.\} and Alger, \{J. R.\} and Baloh, \{R. W.\} and T. Deller and Jen, \{J. C.\}",

note = "Funding Information: This study was supported by the National Multiple Sclerosis Society JF2107 (N.L.S.), the National Eye Institute R01 EY15311 (J.C.J., N.L.S.) and R01 EY13583 (E.C.E.), and the Deutsche Forschungsgemeinschaft (RU 1215/1-1). ",

year = "2006",

month = aug,

doi = "10.1212/01.wnl.0000227960.38262.0c",

language = "English",

volume = "67",

pages = "519--521",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "3",

}

TY - JOUR

T1 - Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations

AU - Sicotte, N. L.

AU - Salamon, G.

AU - Shattuck, D. W.

AU - Hageman, N.

AU - Rüb, U.

AU - Salamon, N.

AU - Drain, A. E.

AU - Demer, J. L.

AU - Engle, E. C.

AU - Alger, J. R.

AU - Baloh, R. W.

AU - Deller, T.

AU - Jen, J. C.

N1 - Funding Information: This study was supported by the National Multiple Sclerosis Society JF2107 (N.L.S.), the National Eye Institute R01 EY15311 (J.C.J., N.L.S.) and R01 EY13583 (E.C.E.), and the Deutsche Forschungsgemeinschaft (RU 1215/1-1).

PY - 2006/8

Y1 - 2006/8

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/33747043538

U2 - 10.1212/01.wnl.0000227960.38262.0c

DO - 10.1212/01.wnl.0000227960.38262.0c

M3 - Article

C2 - 16894121

AN - SCOPUS:33747043538

SN - 0028-3878

VL - 67

SP - 519

EP - 521

JO - Neurology

JF - Neurology

IS - 3

ER -

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

Abstract

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