Niemann-Pick type C disease in two affected sisters

Ocular motor recordings and brain-stem neuropathology

David Solomon, A. Charles Winkelman, David Samuel Zee, Lawrence Gray, Jean Büttner-Ennever

Research output: Contribution to journalArticle

Abstract

Two sisters with Niemann-Pick disease type C were examined: the brain in one sister, who had died, was examined, and eye movements in the other, surviving sister were recorded. Ocular motor recordings showed marked slowing of vertical saccades with relative sparing of horizontal saccades, pursuit, and the vestibulo-ocular reflex. Neuropathological findings included glial fibrillary lesions in the area of the posterior commissure and neuronal loss in the rostral interstitial nucleus of the MLF with preservation of the interstitial nucleus of Cajal and ocular motor complex. These neuropathologic findings correlate well with our current understanding of the anatomy and physiology of the supranuclear control of vertical gaze.

Original languageEnglish (US)
Pages (from-to)436-445
Number of pages10
JournalAnnals of the New York Academy of Sciences
Volume1039
DOIs
StatePublished - 2005

Fingerprint

Type C Niemann-Pick Disease
Eye movements
Saccades
Brain Stem
Brain
Tegmentum Mesencephali
Vestibulo-Ocular Reflex
Eye Movements
Neuroglia
Anatomy
Physiology
Neuropathology
Sister
Nucleus

Keywords

  • Niemann-Pick
  • Supranuclear gaze palsy

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • History and Philosophy of Science

Cite this

Niemann-Pick type C disease in two affected sisters : Ocular motor recordings and brain-stem neuropathology. / Solomon, David; Winkelman, A. Charles; Zee, David Samuel; Gray, Lawrence; Büttner-Ennever, Jean.

In: Annals of the New York Academy of Sciences, Vol. 1039, 2005, p. 436-445.

Research output: Contribution to journalArticle

Solomon, David ; Winkelman, A. Charles ; Zee, David Samuel ; Gray, Lawrence ; Büttner-Ennever, Jean. / Niemann-Pick type C disease in two affected sisters : Ocular motor recordings and brain-stem neuropathology. In: Annals of the New York Academy of Sciences. 2005 ; Vol. 1039. pp. 436-445.
@article{cc8e00d3e09344fbb8565bbf8473a647,
title = "Niemann-Pick type C disease in two affected sisters: Ocular motor recordings and brain-stem neuropathology",
abstract = "Two sisters with Niemann-Pick disease type C were examined: the brain in one sister, who had died, was examined, and eye movements in the other, surviving sister were recorded. Ocular motor recordings showed marked slowing of vertical saccades with relative sparing of horizontal saccades, pursuit, and the vestibulo-ocular reflex. Neuropathological findings included glial fibrillary lesions in the area of the posterior commissure and neuronal loss in the rostral interstitial nucleus of the MLF with preservation of the interstitial nucleus of Cajal and ocular motor complex. These neuropathologic findings correlate well with our current understanding of the anatomy and physiology of the supranuclear control of vertical gaze.",
keywords = "Niemann-Pick, Supranuclear gaze palsy",
author = "David Solomon and Winkelman, {A. Charles} and Zee, {David Samuel} and Lawrence Gray and Jean B{\"u}ttner-Ennever",
year = "2005",
doi = "10.1196/annals.1325.041",
language = "English (US)",
volume = "1039",
pages = "436--445",
journal = "Annals of the New York Academy of Sciences",
issn = "0077-8923",
publisher = "Wiley-Blackwell",

}

TY - JOUR

T1 - Niemann-Pick type C disease in two affected sisters

T2 - Ocular motor recordings and brain-stem neuropathology

AU - Solomon, David

AU - Winkelman, A. Charles

AU - Zee, David Samuel

AU - Gray, Lawrence

AU - Büttner-Ennever, Jean

PY - 2005

Y1 - 2005

N2 - Two sisters with Niemann-Pick disease type C were examined: the brain in one sister, who had died, was examined, and eye movements in the other, surviving sister were recorded. Ocular motor recordings showed marked slowing of vertical saccades with relative sparing of horizontal saccades, pursuit, and the vestibulo-ocular reflex. Neuropathological findings included glial fibrillary lesions in the area of the posterior commissure and neuronal loss in the rostral interstitial nucleus of the MLF with preservation of the interstitial nucleus of Cajal and ocular motor complex. These neuropathologic findings correlate well with our current understanding of the anatomy and physiology of the supranuclear control of vertical gaze.

AB - Two sisters with Niemann-Pick disease type C were examined: the brain in one sister, who had died, was examined, and eye movements in the other, surviving sister were recorded. Ocular motor recordings showed marked slowing of vertical saccades with relative sparing of horizontal saccades, pursuit, and the vestibulo-ocular reflex. Neuropathological findings included glial fibrillary lesions in the area of the posterior commissure and neuronal loss in the rostral interstitial nucleus of the MLF with preservation of the interstitial nucleus of Cajal and ocular motor complex. These neuropathologic findings correlate well with our current understanding of the anatomy and physiology of the supranuclear control of vertical gaze.

KW - Niemann-Pick

KW - Supranuclear gaze palsy

UR - http://www.scopus.com/inward/record.url?scp=22144436233&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=22144436233&partnerID=8YFLogxK

U2 - 10.1196/annals.1325.041

DO - 10.1196/annals.1325.041

M3 - Article

VL - 1039

SP - 436

EP - 445

JO - Annals of the New York Academy of Sciences

JF - Annals of the New York Academy of Sciences

SN - 0077-8923

ER -