New! Sign up for our free email newsletter.
Science News
from research organizations

New childhood dementia insight

Eye-brain lesion link in rare untreatable disease

Date:
December 7, 2020
Source:
Flinders University
Summary:
Researchers studied Sanfilippo syndrome in mouse models, discovering that advancement of retinal disease parallels that occurring in the brain.
Share:
FULL STORY

'Is the eye a window to the brain in Sanfilippo syndrome, an untreatable form of childhood-onset dementia?' Australian researchers ask in a new publication.

The findings of the NHMRC-funded project, just published in international journal Acta Neuropathologica Communications, highlight the potential for using widely available retinal imaging techniques to learn more about brain disease and monitor treatment efficacy.

Sanfilippo syndrome is one of a group of about 70 inherited conditions which collectively affect 1 in 2800 children in Australia, and is more common than cystic fibrosis and better known diseases. Around the world 700,000 children and young people are living with childhood dementia.

Researchers from Flinders University, with collaborators at the South Australian Health and Medical Research Institute (SAHMRI) and The University of Adelaide, studied Sanfilippo syndrome in mouse models, discovering for the first time that advancement of retinal disease parallels that occurring in the brain.

"This means the retina may provide an easily accessible neural tissue via which brain disease development and its amelioration with treatment can be monitored," says Associate Professor Kim Hemsley who leads the Childhood Dementia Research Group at the Flinders Health and Medical Research Institute (FHMRI) at Flinders University.

First author Helen Beard, from the Childhood Dementia Research Group at Flinders University, says there's an urgent need to find treatments and methods to monitor disease progression.

Disorders that cause childhood dementia are neurodegenerative (debilitating and progressive) and impair mental function, according to the Childhood Dementia Initiative.

"This study offers new hope of using the progression of lesions in the retina -- which is part of the central nervous system -- as a 'window to the brain'," says senior research officer Ms Beard. "We were able to show that disease lesions appear in the retina very early in the disease course, in fact much earlier than previously thought," she says.

This means that in addition to ensuring potential treatments reach the brain, researchers must also confirm that they get into the retina to give patients maximum quality of life.

"Our findings suggest that retinal imaging may provide a strategy for monitoring therapeutic efficacy, given that some treatments currently being trialled in children with Sanfilippo syndrome are able to access both brain and retina," Associate Professor Hemsley says.

Therapeutic strategies currently being evaluated in human clinical trials include IV delivery of an AAV9-based gene therapy, and a non-invasive, quantitative measure of neurodegeneration would support development of effective treatments, she says.

The new paper, "Is the eye a window to the brain in Sanfilippo syndrome?," by Helen Beard, Glyn Chidlow, Daniel Neumann, Nazzmer Nazri, Meghan Douglass, Paul J. Trim, Marten F. Snel, Robert J. Casson and Kim M. Hemsley has been published in Acta Neuropathologica Communications.

The study was funded by a Project Grant from the Australian National Health and Medical Research Council (NHMRC).


Story Source:

Materials provided by Flinders University. Note: Content may be edited for style and length.


Journal Reference:

  1. Helen Beard, Glyn Chidlow, Daniel Neumann, Nazzmer Nazri, Meghan Douglass, Paul J. Trim, Marten F. Snel, Robert J. Casson, Kim M. Hemsley. Is the eye a window to the brain in Sanfilippo syndrome? Acta Neuropathologica Communications, 2020; 8 (1) DOI: 10.1186/s40478-020-01070-w

Cite This Page:

Flinders University. "New childhood dementia insight." ScienceDaily. ScienceDaily, 7 December 2020. <www.sciencedaily.com/releases/2020/12/201201124159.htm>.
Flinders University. (2020, December 7). New childhood dementia insight. ScienceDaily. Retrieved March 28, 2024 from www.sciencedaily.com/releases/2020/12/201201124159.htm
Flinders University. "New childhood dementia insight." ScienceDaily. www.sciencedaily.com/releases/2020/12/201201124159.htm (accessed March 28, 2024).

Explore More

from ScienceDaily

RELATED STORIES