Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA)

Michael R. Silver; Kapil D. Sethi; Shyamal H. Mehta; Fenwick T. Nichols; John C. Morgan

doi:10.1186/s12883-015-0520-0

Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA)

Michael R. Silver, Kapil D. Sethi, Shyamal H. Mehta, Fenwick T. Nichols, John C. Morgan

Neurology

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7 Scopus citations

Abstract

Background: Dentatorubropallidoluysian 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 presentation: A 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. Conclusion: Optic atrophy should be included in the clinical spectrum of DRPLA.

Original language	English (US)
Article number	260
Journal	BMC Neurology
Volume	15
Issue number	1
DOIs	https://doi.org/10.1186/s12883-015-0520-0
State	Published - Dec 18 2015

Keywords

African American
Ataxia
Dentatorubropallidoluysian Atrophy (DRPLA)
Dystonia
Optic atrophy

ASJC Scopus subject areas

Clinical Neurology

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10.1186/s12883-015-0520-0

Cite this

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title = "Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA)",

abstract = "Background: Dentatorubropallidoluysian 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 presentation: A 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. Conclusion: Optic atrophy should be included in the clinical spectrum of DRPLA.",

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author = "Silver, {Michael R.} and Sethi, {Kapil D.} and Mehta, {Shyamal H.} and Nichols, {Fenwick T.} and Morgan, {John C.}",

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AU - Sethi, Kapil D.

AU - Mehta, Shyamal H.

AU - Nichols, Fenwick T.

AU - Morgan, John C.

PY - 2015/12/18

Y1 - 2015/12/18

N2 - Background: Dentatorubropallidoluysian 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 presentation: A 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. Conclusion: Optic atrophy should be included in the clinical spectrum of DRPLA.

AB - Background: Dentatorubropallidoluysian 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 presentation: A 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. Conclusion: Optic atrophy should be included in the clinical spectrum of DRPLA.

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KW - Ataxia

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KW - Dystonia

KW - Optic atrophy

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Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA)

Abstract

Keywords

ASJC Scopus subject areas

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