Early clinical signs and imaging findings in Gerstmann–Sträussler–Scheinker syndrome (Pro102Leu)

Arata, Hitoshi; Takashima, Hiroshi; Hirano, Ryuki; Tomimitsu, Hiroyuki; Machigashira, K.; Izumi, Kentaro; Kikuno, Motoyuki; Ng, Arlene R.; Umehara, Fujio; Arisato, T.; Ohkubo, Ryuichi; Nakabeppu, Yoshiaki; Nakajo, Masanori; Osame, Mitsuhiro; Arimura, Kimiyoshi

doi:10.1212/01.wnl.0000218211.85675.18

Cited by 67 publications

(47 citation statements)

References 17 publications

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“…Brain atrophy occurs in all forms of prion disease, 8,31 but most reports are based on visual inspection rather than objective quantification. In an early case report, a presymptomatic P102L gene carrier demonstrated widespread supratentorial and cerebellar volume loss with relative sparing of the mesial temporal lobe structures.…”

Section: Local Volume Reductions Assessed With Vbmmentioning

confidence: 99%

Multiparameter MR Imaging in the6-OPRIVariant of Inherited Prion Disease

Vita¹,

Ridgway

Scahill³

et al. 2013

AJNR Am J Neuroradiol

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Section: Local Volume Reductions Assessed With Vbmmentioning

confidence: 99%

Multiparameter MR Imaging in the6-OPRIVariant of Inherited Prion Disease

Vita¹,

Ridgway

Scahill³

et al. 2013

AJNR Am J Neuroradiol

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“…To measure 2-deoxy-D [1,[2][3] H]glucose uptake, paired EDL muscles were isolated from each mouse and incubated at 37°C for 30 min in Krebs bicarbonate buffer (117 mM NaCl, 4.7 mM KCl, 2.5 mM CaCl 2 , 1.2 mM KH 2 PO 4 , 1.2 mM MgSO 4 , and 24.6 mM NaHCO 3 , pH 7.5) containing 2 mM pyruvate and equilibrated with 95% O 2 , 5% CO 2 . Muscle length was maintained at approximately optimal length (L o ).…”

Section: Glucose Uptakementioning

confidence: 99%

Prion Protein Expression and Functional Importance in Skeletal Muscle

Smith

Moylan

Hardin

et al. 2011

Antioxidants & Redox Signaling

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Skeletal muscle expresses prion protein (PrP) that buffers oxidant activity in neurons. Aims: We hypothesize that PrP deficiency would increase oxidant activity in skeletal muscle and alter redox-sensitive functions, including contraction and glucose uptake. We used real-time polymerase chain reaction and Western blot analysis to measure PrP mRNA and protein in human diaphragm, five murine muscles, and muscle-derived C2C12 cells.Effects of PrP deficiency were tested by comparing PrP-deficient mice versus wild-type mice and morpholinoknockdown versus vehicle-treated myotubes. Oxidant activity (dichlorofluorescin oxidation) and specific force were measured in murine diaphragm fiber bundles. Results: PrP content differs among mouse muscles (gastrocnemius > extensor digitorum longus, EDL > tibialis anterior, TA; soleus > diaphragm) as does glycosylation (di-, mono-, nonglycosylated; gastrocnemius, EDL, TA = 60%, 30%, 10%; soleus, 30%, 40%, 30%; diaphragm, 30%, 30%, 40%). PrP is predominantly di-glycosylated in human diaphragm. PrP deficiency decreases body weight (15%) and EDL mass (9%); increases cytosolic oxidant activity (fiber bundles, 36%; C2C12 myotubes, 7%); and depresses specific force (12%) in adult (8-12 mos) but not adolescent (2 mos) mice. Innovation: This study is the first to directly assess a role of prion protein in skeletal muscle function. Conclusions: PrP content varies among murine skeletal muscles and is essential for maintaining normal redox homeostasis, muscle size, and contractile function in adult animals. Antioxid. Redox Signal. 15, 2465-2475.

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“…As seen with the other prion diseases, NAA may be decreased diffusely in the brain parenchyma (11,84). SPECT demonstrates hypoperfusion within the cerebrum, usually greater in the occipital lobes (83,84,86). One case report using FDG-PET demonstrated decreased cortical metabolism most notable in the frontal, temporal, and parietal areas (87).…”

Section: Gerstmann-straussler-scheinker Disease (Gss)mentioning

confidence: 97%

“…MRI is usually normal or may demonstrate atrophy either diffusely or confined to the cerebellum (11,(82)(83)(84). Few reports described variable MRI findings including increased T2 signal involving the basal ganglia and posterior limb of the internal capsule (82) as well as hyperintensity within the cortex and/or basal ganglia on DWI, reminiscent of sCJD (83,85,86). MRI, including DWI, may also be normal in a significant proportion of patients (83), a feature that may be related to the variable degree of spongiform changes seen in this condition (3).…”

Section: Gerstmann-straussler-scheinker Disease (Gss)mentioning

confidence: 99%

“…Few reports described variable MRI findings including increased T2 signal involving the basal ganglia and posterior limb of the internal capsule (82) as well as hyperintensity within the cortex and/or basal ganglia on DWI, reminiscent of sCJD (83,85,86). MRI, including DWI, may also be normal in a significant proportion of patients (83), a feature that may be related to the variable degree of spongiform changes seen in this condition (3). As seen with the other prion diseases, NAA may be decreased diffusely in the brain parenchyma (11,84).…”

Section: Gerstmann-straussler-scheinker Disease (Gss)mentioning

confidence: 99%

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Imaging of prion diseases

Létourneau-Guillon

Wada²,

Kucharczyk

2012

Magnetic Resonance Imaging

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Prion diseases are caused by self‐replicating proteins that induce lethal neurodegenerative disorders. In the last decade, the understanding of the different clinical, pathological, and neuroimaging phenotypes of this group of disorders has evolved paralleling the advances in prion molecular biology. From an imaging standpoint, the implementation of diffusion‐weighted imaging in routine practice has markedly facilitated the detection of prion diseases, especially Creutzfeldt‐Jakob. Less frequent prion‐related disorders, including genetic diseases, may also benefit from progresses in the field of quantitative diffusion‐weighted imaging, MR spectroscopy or molecular imaging. Herein, we present a review of the neuroimaging features of the prion disorders known to affect humans emphasizing the important contribution of MRI in the diagnosis of this group of disorders. J. Magn. Reson. Imaging 2012;35:998‐1012. © 2012 Wiley Periodicals, Inc.

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Early clinical signs and imaging findings in Gerstmann–Sträussler–Scheinker syndrome (Pro102Leu)

Cited by 67 publications

References 17 publications

Multiparameter MR Imaging in the6-OPRIVariant of Inherited Prion Disease

Multiparameter MR Imaging in the6-OPRIVariant of Inherited Prion Disease

Prion Protein Expression and Functional Importance in Skeletal Muscle

Imaging of prion diseases

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