Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia

被引：16

作者：

de Freitas, Julian Leticia ^{[1
]}

Rezende Filho, Flavio Moura ^{[1
]}

Sallum, Juliana M. F. ^{[2
]}

Franca, Marcondes Cavalcante, Jr. ^{[3
]}

Pedroso, Jose Luiz ^{[1
]}

Barsottini, Orlando G. P. ^{[1
]}

机构：

[1] Univ Fed Sao Paulo, Dept Neurol, Ataxia Unit, Sao Paulo, SP, Brazil

[2] Univ Fed Sao Paulo, Ophthalmol Dept, Retina Sect, Sao Paulo, SP, Brazil

[3] Univ Estadual Campinas, Dept Neurol, Campinas, SP, Brazil

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2020年 / 409卷

关键词：

Hereditary spastic paraplegia; Spastic paraplegia; Optic atrophy; Ophthalmological changes; X-LINKED ADRENOLEUKODYSTROPHY; OPTICAL COHERENCE TOMOGRAPHY; CHARLEVOIX-SAGUENAY; CLINICAL-FEATURES; FRIEDREICH ATAXIA; SACS GENE; NEUROIMAGING FEATURES; BOUCHER-NEUHAUSER; FREQUENT CAUSE; CELL LOSS;

D O I：

10.1016/j.jns.2019.116620

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Ophthalmological abnormalities may occur in specific subtypes of hereditary spastic paraplegia (HSP) and in genetic diseases that present with spastic paraplegia mimicking HSP. These ophthalmological changes may precede the motor symptoms and include pigmentary retinal degeneration, ophthalmoplegia, optic atrophy, cataracts and nystagmus. Some ophthalmological abnormalities are more prevalent in specific forms of HSP. Considering that the diagnosis of HSP is usually difficult and complex, specific ophthalmological changes may guide the genetic testing. There are other genetic diseases such as autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), X-linked adrenoleukodystrophy and spastic paraplegia, optic atrophy and neuropathy (SPOAN) that may mimic HSP and also may present with specific ophthalmological changes. In this article, we review the main ophthalmological changes observed in patients with HSP and HSP-like disorders.

引用

页数：9

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