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Credit: Childhood Dementia Initiative.

Is the eye a window to the brain in Sanfilippo syndrome, an incurable form of dementia that affects children, as Australian researchers ask in a new publication.

Results of the NHMRC funded project, just published in an international journal Acta Neuropathologica CommunicationsHighlighting the possibility of using widely available retinal imaging techniques to learn more about brain diseases and monitor treatment effectiveness.

Sanfilippo syndrome is one of a group of about 70 inherited conditions that collectively affect 1 in 2,800 children in Australia, and it is more common than cystic fibrosis and the known diseases. 700,000 children and youth worldwide suffer from childhood dementia

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

“This means that the retina may provide accessible nerve tissue through which to monitor the development of brain diseases and improve them with treatment,” says Associate Professor Kim Hemsley who leads the Childhood Dementia Research Group at the Flinders Health and Medical Research Institute (FHMRI) at Flinders University.

Senior author Helen Baird of the Childhood Dementia Research Group at Flinders University says there is an urgent need to find treatments and ways to monitor disease progression.

The disorders that cause dementia in children are neurological disorders (debilitating and advanced) and impair mental function, according to the Children’s Dementia Initiative.

“This study offers new hope in using the development of lesions in the retina – which is part of the central nervous system – as a window into the brain,” says lead researcher Ms. Beard. “We were able to show that pathological lesions appear in the retina very early in the course of the disease, in fact much earlier than previously thought,” she says.

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

“Our findings indicate that retinal imaging may provide a strategy for monitoring therapeutic efficacy, given that some treatments currently being tried in children with Sanfilippo syndrome are able to reach the brain and retina,” says Professor Hemsley.

Treatment strategies currently being evaluated in human clinical trials include the fourth delivery of AAV9-based gene therapy, and a non-invasive quantification of neurodegeneration would support the development of effective treatments, she says.

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The new paper, is the eye a window to the brain in Sanfilippo syndrome? (2020) Written by Helen Baird, Glenn Chidlow, Daniel Newman, Nazmere Nazri, Megan Douglas, Paul J. Acta Neuropathologica Communications DOI: 10.1186 / s40478-020-01070-w

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