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

Afdeling for Øjensygdomme HOC

18 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Vol/bind	33
Udgave nummer	3
Sider (fra-til)	225-31
Antal sider	7
DOI	https://doi.org/10.1097/WNO.0b013e31828d4add
Status	Udgivet - sep. 2013

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10.1097/WNO.0b013e31828d4add

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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.",

author = "Pierre Lebranchu and {Le Meur}, Guyl{\`e}ne and Armelle Magot and Albert David and Christophe Verny and Weber, {Michel Samuel} and Dan Milea",

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volume = "33",

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T1 - Maculopathy and spinocerebellar ataxia type 1

T2 - a new association?

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

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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.

U2 - 10.1097/WNO.0b013e31828d4add

DO - 10.1097/WNO.0b013e31828d4add

M3 - Journal article

C2 - 23584155

SN - 1536-5166

VL - 33

SP - 225

EP - 231

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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