Abnormal Eye Movements in Gerstmann-Sträussler-Scheinker Disease

Yee, Robert D.; Farlow, Martin R.; Suzuki, David; Betelak, Kathleen F.; Ghetti, Bernardino

doi:10.1001/archopht.1992.01080130070028

Cited by 21 publications

(11 citation statements)

References 44 publications

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“…Impairment on these tests would be consistent with cerebellar dysfunction. This interpretation is supported by MRI (Farlow et al, 1990), eye movement (Yee et al, 1992), and autopsy studies (Azzarelli et al, 1985;Ghetti et al, 1989;Hsiao & Prusiner, 1990; in this kindred showing the cerebellum as a major locus of involvement.…”

Section: Discussionsupporting

confidence: 52%

“…Progressive gait ataxia, memory loss, nystagmus, and hypometria are early clinical signs. Later in the course of the disease, there are signs of rigidity, bradykinesia, and dementia (Azzarelli et al, 1985;Farlow et al, 1989Ghetti et al, 1992;Yee et al, 1992). Neuropathologically, PrP-amyloid deposits are found throughout the cerebrum and cerebellum (Ghetti et al, 1989).…”

Section: Introductionmentioning

confidence: 99%

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Neuropsychological function in patients with Gerstmann-Sträussler-Scheinker disease from the Indiana Kindred (F198S)

Unverzagt

Farlow

Norton

et al. 1997

J Int Neuropsychol Soc

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Three patients with Gerstmann-Sträussler-Scheinker disease (GSS) caused by a serine-for-phenylalanine substitution at codon 198 of the prion protein gene (PRNP) were compared to 9 age- and education-matched non-mutation-carriers from the same large Indiana kindred (GSS–IK) on a comprehensive neuropsychological test battery. Clinically significant impairments in intelligence, secondary memory, attention and cognitive processing speed, executive ability, and manual motor skills were noted in 2 patients. The wide range and the severity of the cognitive deficits indicated generalized cerebral dysfunction consistent with global dementia. One patient, symptomatic for less than 1 year, had more selective deficits involving memory, motor skills, and verbal fluency, suggesting early subcortical involvement. (JINS, 1997, 3, 169–178.)

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Section: Discussionsupporting

confidence: 52%

Section: Introductionmentioning

confidence: 99%

Neuropsychological function in patients with Gerstmann-Sträussler-Scheinker disease from the Indiana Kindred (F198S)

Unverzagt

Farlow

Norton

et al. 1997

J Int Neuropsychol Soc

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“…Pronounced and early abnormalities in eye movements, such as a progressive supranuclear palsy, are a unique feature related to subcortical tau deposition in the GSS Indiana kindred [4, 5]. GSS is a neurodegenerative prion disease with diverse clinical presentations.…”

Section: Resultsmentioning

confidence: 99%

“…In a study examining eye movements abnormalities in the Indiana Kindred, all patients featured abnormal eye movements of the cerebellar variety, including gaze-evoked nystagmus, rebound nystagmus, impaired smooth pursuit, and hypometric saccades [5]. Each affected member had impaired smooth pursuit and abnormal OKN, and could not suppress the VOR normally with fixation.…”

Section: Discussionmentioning

confidence: 99%

A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy

2019

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BackgroundGerstmann-Straussler-Scheinker disease (GSS), an autosomal dominant prion disorder, usually presents as a slowly progressive cerebellar ataxia followed by later cognitive decline. We present a member of the GSS Indiana Kindred with supranuclear palsy, a less common feature in GSS.Case presentationA 42-year-old man presented with 12 months of progressive gait and balance difficulty. Exam was notable for ataxia and cerebellar eye movement abnormalities. Genetic testing revealed a F198S variant in the prion protein (PRNP) gene, the pathological variant of GSS associated with his family, the Indiana kindred. Eighteen months after initial presentation supranuclear palsy developed.ConclusionsGSS is a neurodegenerative prion disease with diverse clinical presentations, and exhibits greater variability in disease phenotype compared to other inherited spongiform encephalopathies. GSS should be on the differential for patients with ataxia and supranuclear palsy, and it is important to assess both horizontal and vertical saccades and optokinetic nystagmus in patients with ataxia.

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“…Characteristic alterations of saccadic eye movement [129] may be detected before other signs and symptoms appear. Optokinetic nystagmus and sleep disturbances were seen [128,129] PrP-amyloid plaques were seen in the gray matter of neocortex, cerebellum, midbrain, pontine tegmentum and medulla. Plaques were also visible in the striatum, claustrum, the amygdala, the hypothalamus and the thalamus.…”

Section: Val Mutationmentioning

confidence: 99%

Molecular Genetics of Gerstmann-Straussler-Scheinker Disease and Creutzfeld-Jakob Disease

Surewicz¹

2013

Hereditary Genetics

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Prion diseases are a group of transmissible neurodegenerative disorders associated with the misfolded form of the prion protein, PrP Sc . The latter isoform is derived by conformational conversion of the normal prion protein, PrP c . The gene encoding the prion protein is highly conserved among species. There are several distinct types of prion diseases in humans: kuru, Creutzfeldt -Jakob disease (CJD), Gerstmann-Sträussler-Scheinker disease (GSS) and Fatal Familial Insomnia (FFI) and its sporadic analogue, fatal sporadic insomnia. While human prion diseases are mostly sporadic, some 15% of CJD and all cases of GSS are hereditary disorders caused by mutations in the PRNP gene. There are two major types of mutations in PRNP: point mutations leading to amino acid substitutions and mutations leading to expansions of the octapeptide repeat region within the N-terminal part of the prion protein. This review describes different types of familial prion diseases linked to specific polymorphisms and mutation in PRNP.

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Abnormal Eye Movements in Gerstmann-Sträussler-Scheinker Disease

Cited by 21 publications

References 44 publications

Neuropsychological function in patients with Gerstmann-Sträussler-Scheinker disease from the Indiana Kindred (F198S)

Neuropsychological function in patients with Gerstmann-Sträussler-Scheinker disease from the Indiana Kindred (F198S)

A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy

Molecular Genetics of Gerstmann-Straussler-Scheinker Disease and Creutzfeld-Jakob Disease

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