Upward Gaze Palsy: a Valuable Sign to Distinguish Spinocerebellar Ataxias

Franklin, Gustavo Leite; Meira, Alex Tiburtino; Camargo, Carlos Henrique Ferreira; Nascimento, Fábio A.; Teive, Hélio A. Ghizoni

doi:10.1007/s12311-020-01154-2

Cited by 9 publications

(2 citation statements)

References 22 publications

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“…Various types of ophthalmoplegia are more ubiquitous in SCA3 compared with other SCA subtypes (16,64), while vertical gaze palsy is more common compared with horizontal gaze palsy (16). A recent study established that upward gaze palsy (UGP) and bulging eyes signs are common in SCA3, while UGP shows a positive relationship with CAG expansions, age and disease duration (64). Furthermore, diplopia has been reported as the initial complaint preceding gait ataxia, and is more frequent among patients with SCA3 (9).…”

Section: Sca Typementioning

confidence: 99%

Visual oculomotor abnormalities and vestibulo‑ocular reflex dynamics in polyglutamine spinocerebellar ataxias (Review)

Peng

Han

et al. 2023

Exp Ther Med

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Spinocerebellar ataxias (SCAs) are a group of autosomal dominant neurodegenerative diseases that are characterized by cerebellar ataxia. The most common types of SCAs are caused by polyglutamine (polyQ)-encoding cytosine-adenine-guanine repeat expansions. Autosomal dominant SCAs share similar pathophysiological mechanisms. The cerebellum plays an important role in the generation and control of eye movement, and neuropathological findings indicate that cerebellar degeneration is commonly present in polyQ-SCAs. As a result, various patterns of oculomotor impairment are present in most SCA subtypes. The present review summarizes the visual oculomotor abnormalities and vestibulo-ocular reflex dynamics of the most common polyQ-SCAs, as well as their genetic, clinical and neuropathological features. In conclusion, the systemic evaluation of eye movement features is useful in the differential diagnosis of polyQ-SCAs. Contents1. Introduction 2. SCA type 1 3. SCA type 2 4. SCA type 3 5. SCA type 6 6. SCA type 7 7. SCA type 17 8. Conclusions

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Section: Sca Typementioning

confidence: 99%

Visual oculomotor abnormalities and vestibulo‑ocular reflex dynamics in polyglutamine spinocerebellar ataxias (Review)

Peng

Han

et al. 2023

Exp Ther Med

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“…In these cases, nystagmus could be a differential sign at that stage, and the progressive development of ataxia will be the key feature for the diagnosis. Progressive cerebellar atrophy on MRI, which is often already visible in early stages, can also be helpful ( 73 ).…”

Section: Genotype–phenotype Correlation For Psp Syndromesmentioning

confidence: 99%

Genotype–Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities

et al. 2022

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The progressive supranuclear palsy (PSP) syndrome encompasses different entities. PSP disease of sporadic origin is the most frequent presentation, but different genetic mutations can lead either to monogenic variants of PSP disease, or to other conditions with a different pathophysiology that eventually may result in PSP phenotype. PSP syndrome of monogenic origin is poorly understood due to the low prevalence and variable expressivity of some mutations. Through this review, we describe how early age of onset, family history of early dementia, parkinsonism, dystonia, or motor neuron disease among other clinical features, as well as some neuroimaging signatures, may be the important clues to suspect PSP syndrome of monogenic origin. In addition, a diagnostic algorithm is proposed that may be useful to guide the genetic diagnosis once there is clinical suspicion of a monogenic PSP syndrome.

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