Maculopathy and spinocerebellar ataxia type 1: a new association?

Pierre Lebranchu; Guylène Le Meur; Armelle Magot; Albert David; Christophe Verny; Michel Samuel Weber; Dan Milea

doi:10.1097/WNO.0b013e31828d4add

Maculopathy and spinocerebellar ataxia type 1: a new association?

Pierre Lebranchu, Guylène Le Meur, Armelle Magot, Albert David, Christophe Verny, Michel Samuel Weber, Dan Milea

Department of Ophthalmology

19 Citations (Scopus)

Abstract

Autosomal dominant cerebellar ataxia is a rare heterogeneous group of diseases characterized by cerebellar symptoms, often associated with other multisystemic signs. Mild optic neuropathy has been associated with spinocerebellar ataxia type 1 (SCA1), but macular dysfunction has been reported in only 2 cases. We report the first family with SCA1 with several members affected by visual loss related to maculopathy.

Original language	English
Journal	Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Volume	33
Issue number	3
Pages (from-to)	225-31
Number of pages	7
DOIs	https://doi.org/10.1097/WNO.0b013e31828d4add
Publication status	Published - Sept 2013

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title = "Maculopathy and spinocerebellar ataxia type 1: a new association?",

abstract = "Autosomal dominant cerebellar ataxia is a rare heterogeneous group of diseases characterized by cerebellar symptoms, often associated with other multisystemic signs. Mild optic neuropathy has been associated with spinocerebellar ataxia type 1 (SCA1), but macular dysfunction has been reported in only 2 cases. We report the first family with SCA1 with several members affected by visual loss related to maculopathy.",

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AU - Lebranchu, Pierre

AU - Le Meur, Guylène

AU - Magot, Armelle

AU - David, Albert

AU - Verny, Christophe

AU - Weber, Michel Samuel

AU - Milea, Dan

PY - 2013/9

Y1 - 2013/9

N2 - Autosomal dominant cerebellar ataxia is a rare heterogeneous group of diseases characterized by cerebellar symptoms, often associated with other multisystemic signs. Mild optic neuropathy has been associated with spinocerebellar ataxia type 1 (SCA1), but macular dysfunction has been reported in only 2 cases. We report the first family with SCA1 with several members affected by visual loss related to maculopathy.

AB - Autosomal dominant cerebellar ataxia is a rare heterogeneous group of diseases characterized by cerebellar symptoms, often associated with other multisystemic signs. Mild optic neuropathy has been associated with spinocerebellar ataxia type 1 (SCA1), but macular dysfunction has been reported in only 2 cases. We report the first family with SCA1 with several members affected by visual loss related to maculopathy.

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U2 - 10.1097/WNO.0b013e31828d4add

DO - 10.1097/WNO.0b013e31828d4add

M3 - Journal article

C2 - 23584155

SN - 1536-5166

VL - 33

SP - 225

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JO - Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

JF - Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

IS - 3

ER -

Maculopathy and spinocerebellar ataxia type 1: a new association?

Abstract

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