Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA)

Abstract

BackgroundDentatorubropallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disease that is associated with numerous movement disorders. Ocular problems also occur with DRPLA with reports of corneal endothelial degeneration in some patients living with the disease. We report a new visual problem associated with DRPLA, optic atrophy.Case presentationA 47 year-old man presented complaining of progressive visual loss associated with optic atrophy on ophthalmological evaluation. He gradually developed a progressive ataxia with dystonia. Brain MRI revealed a diffuse leukoencephalopathy. Genetic analysis revealed 62 CAG repeats in one allele of the DRPLA gene and he was diagnosed with DRPLA.ConclusionOptic atrophy should be included in the clinical spectrum of DRPLA.

Dentatorubral-Pallidoluysian Atrophy: An Update

“… 10 , 18 , 19 , 51 – 53 There are only two small studies of DRPLA cohorts (n = 10, >60 years of age; n = 3, aged 39–46 years) and these have identified characteristic findings in later disease, including brainstem and cerebellar atrophy and high-intensity T2/fluid-attenuated inversion recovery weighted signal in the cerebral white matter, thalamus, and brainstem. 14 , 54 Other imaging studies have used varying sequence protocols on individual cases 10 , 17 , 20 , 47 , 52 or small pedigrees, 16 , 46 with inconsistent findings ranging from small vessel disease to more typical cerebellar and brainstem atrophy, and cerebellar and supratentorial white matter changes with leuokoencephalopathy, in later disease. An individual case report highlighted the potential utility of susceptibility weighted imaging in DRPLA, with the possibility of iron or other cation deposition in susceptible areas.…”

Case report: Corneal endothelial degeneration and optic atrophy in dentatorubral-pallidoluysian atrophy quantified by specular micrography and optical coherence tomography

“…We summarized the clinical characteristics, genetic analysis, MRI findings, and ophthalmological examination in the four patients and those with ophthalmologic lesions previously reported ( 2 – 5 ) in Table 1 . These patients showed typical signs similar to those of DRPLA patients without ophthalmological lesions.…”

“…Only a few reports have shown ophthalmic manifestations in patients with DRPLA. Corneal endothelial degeneration ( 2 – 4 ) and optic atrophy ( 5 ) have been reported separately; however, there are no reports of corneal endothelial degeneration and optic atrophy simultaneously in these patients. Herein, we present four patients from a single family with DRPLA and corneal endothelial degeneration and/or optic atrophy.…”

Dentatorubral-pallidoluysian Atrophy: An Update

“…14 In childhood, features of delayed developmental milestones and seizures have a broad differential diagnosis, while in adolescence and early adulthood psychiatric symptoms such as irritability, depression, and psychosis may be the presenting features. [15][16][17][18][19] Late-onset DRPLA presented as isolated cerebellar ataxia in 50% individuals and ataxia with or without dementia in 70% individuals in a recent elderly-onset (.60) case series. 14 Differential diagnosis is therefore broad, making diagnosis of DRPLA difficult in the absence of a known family history of the disease.…”

“…10,18,19,[51][52][53] There are only two small studies of DRPLA cohorts (n 5 10, .60 years of age; n 5 3, aged 39-46 years) and these have identified characteristic findings in later disease, including brainstem and cerebellar atrophy and high-intensity T2/fluid-attenuated inversion recovery weighted signal in the cerebral white matter, thalamus, and brainstem. 14,54 Other imaging studies have used varying sequence protocols on individual cases 10,17,20,47,52 or small pedigrees, 16,46 with inconsistent findings ranging from small vessel disease to more typical cerebellar and brainstem atrophy, and cerebellar and supratentorial white matter changes with leuokoencephalopathy, in later disease. An individual case report highlighted the potential utility of susceptibility weighted imaging in DRPLA, with the possibility of iron or other cation deposition in susceptible areas.…”