Seeing Parkinson Disease in the Retina

Lin, Jonathan B.; Apte, Rajendra S.

doi:10.1001/jamaophthalmol.2020.5719

Cited by 7 publications

(1 citation statement)

References 8 publications

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“…Indeed, the nervous system is frequently impacted in syndromic retinal disorders, including Alzheimer's disease patients and animal models [19,20]. In addition, alterations in the structure of the retina and choroid, as well as in its microvasculature, occur as part of nonmotor symptoms observed in Parkinson's Disease [21,22]. In Batten disease, the classic juvenile form of human neuronal ceroid lipofuscinosis, ocular symptoms manifest before neurologic symptoms [23], while in CLN8 neuronal ceroid lipofuscinosis, disease progression (onset of myoclonus and cognitive impairment) is rapid, and visual loss is often noted within two years of diagnosis [24].…”

Section: Introductionmentioning

confidence: 99%

Frameshift Variant in AMPD2 in Cirneco dell’Etna Dogs with Retinopathy and Tremors

Murgiano,

Niggel,

Benedicenti

et al. 2024

Genes

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While the manifestations of many inherited retinal disorders are limited to loss of vision, others are part of a syndrome that affects multiple tissues, particularly the nervous system. Most syndromic retinal disorders are thought to be recessively inherited. Two dogs out of a litter of Cirneco dell′ Etna dogs, both males, showed signs of retinal degeneration, along with tremors and signs described as either atypical seizures or paroxysmal dyskinesias, while the other two male littermates were normal. We named this oculo-neurological syndrome CONS (Cirneco oculo-neurological syndrome), and undertook homozygosity mapping and whole-genome sequencing to determine its potential genetic etiology. Notably, we detected a 1-bp deletion in chromosome 6 that was predicted to cause a frameshift and premature stop codon within the canine AMPD2 gene, which encodes adenosine monophosphate deaminase, an enzyme that converts adenosine 5′-monophosphate (AMP) to inosine 5’-monophosphate (IMP). Genotyping of the available Cirneco population suggested perfect segregation between cases and controls for the variant. Moreover, this variant was absent in canine genomic databases comprised of thousands of unaffected dogs. The AMPD2 genetic variant we identified in dogs presents with retinal manifestations, adding to the spectrum of neurological manifestations associated with AMPD2 variants in humans.

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