Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations.
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.
Sicotte
N L
NL
Department of Neurology, Division of Brain Mapping, Interdepartmental Programs, UCLA, USA. nsicotte@ucla.edu
Salamon
G
G
Shattuck
D W
DW
Hageman
N
N
Rüb
U
U
Salamon
N
N
Drain
A E
AE
Demer
J L
JL
Engle
E C
EC
Alger
J R
JR
Baloh
R W
RW
Deller
T
T
Jen
J C
JC
D000328:Adult; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D001933:Brain Stem / Q000473:pathology*; D004252:DNA Mutational Analysis; D038524:Diffusion Magnetic Resonance Imaging; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic / Q000235:genetics*; D012600:Scoliosis / Q000235:genetics; D000097905:Roundabout Proteins
D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic; C499630:ROBO3 protein, human; D000097905:Roundabout Proteins