PubMed Health⌕ Search

PubMed · 2320251

Vertical ocular motor apraxia.

Abstract

We report a case of vertical ocular motor apraxia in a 4-year old boy whom we have followed for 2 years. The patient had no upward and downward voluntary movements of the eyes since birth, but horizontal movements were normal. He achieved gaze changes in the vertical plane by combined blinks and head movements. Magnetic resonance imaging demonstrated bilateral lesions at the mesencephalic-diencephalic junction.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

R Ebner, L Lopez, S Ochoa, L Crovetto. 1990. Vertical ocular motor apraxia.. https://doi.org/10.1212/wnl.40.4.712

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome.

Corticobasal syndrome (CBS) is a rare cognitive and movement disorder characterized by asymmetric rigidity, apraxia, alien-limb phenomenon, cortical sensory loss, myoclonus, focal dystonia, and dementia. It occurs along the clinical spectrum of frontotemporal lobar degeneration (FTLD), which has recently been shown to segregate with truncating mutations in progranulin (PGRN), a multifunctional growth factor thought to promote neuronal survival. This study identifies a novel splice donor site mutation in the PGRN gene (IVS7+1G-->A) that segregates with CBS in a Canadian family of Chinese origin. We confirmed the absence of the mutant PGRN allele in the RT-PCR product which supports the model of haploinsufficiency for PGRN-linked disease. This report of mutation in the PGRN gene in CBS extends the evidence for genetic and phenotypic heterogeneity in FTLD spectrum disorders.

Apraxias↗