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

15 Citationer (Scopus)

Abstrakt

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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@article{7e1a1cfb98194b158e4749d371a71f24,

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",

year = "2013",

month = sep,

doi = "10.1097/WNO.0b013e31828d4add",

language = "English",

volume = "33",

pages = "225--31",

journal = "Journal of Neuro-Ophthalmology",

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publisher = "Lippincott Williams & Wilkins",

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TY - JOUR

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

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.

U2 - 10.1097/WNO.0b013e31828d4add

DO - 10.1097/WNO.0b013e31828d4add

M3 - Journal article

C2 - 23584155

VL - 33

SP - 225

EP - 231

JO - Journal of Neuro-Ophthalmology

JF - Journal of Neuro-Ophthalmology

SN - 1070-8022

IS - 3

ER -

Maculopathy and spinocerebellar ataxia type 1: a new association?

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