Thalamic involvement determined using VSRAD advance on MRI and easy Z-score analysis of 99mTc-ECD-SPECT in Gerstmann-Sträussler-Scheinker syndrome with P102L mutation

Sugiyama, Atsuhiko; Sato, Noriko; Kimura, Yukio; Maekawa, Tomoko; Wakasugi, Noritaka; Enokizono, Mikako; Takahashi, Yūji; Murata, Miho; Mizusawa, Hidehiro

doi:10.1016/j.jns.2016.12.021

Cited by 9 publications

(9 citation statements)

References 21 publications

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“…This estimation is difficult to apply directly to all published cases, because of (1) the long period of data acquisition (some patients died in the 1950s, others in 2017), (2) a retrospective diagnosis in many cases, and (3) inconsistencies in prion disease surveillance in different countries. There is, however, an important argument for our observation, which is the increase in new cases reported since 2017; we found a total of 26 patients, including 6 of our 7 Czech patients (1 of our cases was published and is therefore already counted in the literature) …”

Section: Discussionmentioning

confidence: 84%

“…The only significant finding was that basal ganglia hyperintensities correspond to shorter disease duration (24.5 vs 48 months, p = 0.0329). In 2 cases of genetically verified GSS P102L, voxel‐based specific regional analysis system for Alzheimer disease detected thalamic atrophy (in line with decreased blood flow in the thalamus based on z score analysis using 99mTc‐ethyl cysteinate dimer single photon emission computed tomography) . Unfortunately, thalamic voxel‐based volumetry was not realizable in the MRI scans from our patients.…”

Section: Discussionmentioning

confidence: 95%

“…We focused on gender, age at onset, disease duration, onset and duration of dementia (from the onset of cognitive deterioration impacting on activities of daily living and continuing until death), onset of ataxia, MRI abnormalities (in particular basal ganglia, cortex, and cerebellum), polymorphism in codon 129, changes in deep tendon reflexes and sensory symptoms, and 14‐3‐3 protein in the CSF …”

Section: Characteristics Of Our Reported 7 Cases Compared To Previousmentioning

confidence: 99%

“…The first step was to retrospectively analyze the clinical manifestation and results from auxiliary diagnostic methods (ie, brain magnetic resonance imaging [MRI], electroencephalogram [EEG], and cerebrospinal fluid [CSF] analysis) in the 7 Czech cases with postmortem confirmation. The next step was to extend this analysis by combining the data from the 7 Czech patients with data from 87 previously published P102L GSS cases, and with the use of cluster analysis, to define typical GSS syndrome phenotypes.…”

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confidence: 99%

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Clinical Variability in P102L Gerstmann–Sträussler–Scheinker Syndrome

Tesař

Matěj

Kukal

et al. 2019

Annals of Neurology

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Gerstmann–Sträussler–Scheinker syndrome (GSS) with the P102L mutation is a rare genetic prion disease caused by a pathogenic mutation at codon 102 in the prion protein gene. Cluster analysis encompassing data from 7 Czech patients and 87 published cases suggests the existence of 4 clinical phenotypes (typical GSS, GSS with areflexia and paresthesia, pure dementia GSS, and Creutzfeldt–Jakob disease–like GSS); GSS may be more common than previously estimated. In making a clinical diagnosis or progression estimates of GSS, magnetic resonance imaging and real‐time quaking‐induced conversion may be helpful, but the results should be evaluated with respect to the overall clinical context. ANN NEUROL 2019;86:643–652

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Section: Discussionmentioning

confidence: 84%

Section: Discussionmentioning

confidence: 95%

Section: Characteristics Of Our Reported 7 Cases Compared To Previousmentioning

confidence: 99%

mentioning

confidence: 99%

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Clinical Variability in P102L Gerstmann–Sträussler–Scheinker Syndrome

Tesař

Matěj

Kukal

et al. 2019

Annals of Neurology

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“…There are several reports of useful VSRAD applications focusing on the diagnosis of depression [ 13 ], prion disease [ 14 ], or the differentiation of AD and depression [ 15 ]. Some of those studies used 3-tesla MRI scans, and more studies using 3-tesla MRI and VSRAD software may emerge in the future.…”

Section: Discussionmentioning

confidence: 99%

Voxel-based Specific Regional Analysis System for Alzheimer’s Disease (VSRAD) on 3-tesla Normal Database: Diagnostic Accuracy in Two Independent Cohorts with Early Alzheimer’s Disease

Sone¹,

Imabayashi²,

Maikusa³

et al. 2018

Aging and disease

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Voxel-based specific regional analysis system for Alzheimer’s disease (VSRAD) software is widely used in clinical practice in Alzheimer’s disease (AD). The existing VSRAD is based on the normal database with 1.5-tesla MRI scans (VSRAD-1.5T), and its utility for patients have undergone 3-tesla MRI is still controversial. We recruited 19 patients with early AD and 28 healthy controls who had undergone 3-tesla MRI scans at our institute (Cohort 1). We also used the 3-tesla MRI data of 30 patients with early AD and 13 healthy controls from the Japanese Alzheimer’s Disease Neuroimaging Initiative (Cohort 2). We also created a new VSRAD based on 65 normal subjects’ 3-tesla MRI scans (VSRAD-3T), and compared the detectability of AD between VSRAD-1.5T and VSRAD-3T, using receiver operating characteristic curve and area under the curve (AUC) analyses. As a result, there were no significant differences in the detectability of AD between VSRAD-3T and VSRAD-1.5T, except for the whole white matter atrophy score, which showed significantly better AUC in VSRAD-3T than in VSRAD-1.5T in both Cohort 1 (p=0.04) and 2 (p<0.01). Generally, there were better diagnostic values in Cohort 2 than in Cohort 1. The optimal cutoff values varied but were generally lower than in the previously published data. In conclusion, for patients with 3-tesla MRI, the detectability of early AD by the existing VSRAD was not different from that by the new VSRAD based on 3-tesla database. We should exercise caution when using the existing VSRAD for 3-tesla white matter analyses or for setting cutoff values.

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Correlation between clinical and radiologic features of patients with Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu)

Yoshimura

Yuan

Higashi

et al. 2018

Journal of the Neurological Sciences

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Clinical symptoms resulting from failure of dorsal horn of spinal cord and spinocerebellar tracts were observed in all cases. Radiologic findings revealed individual differences of involved region in their brain, which could produce clinical diversity. We identified a downtrend of blood flow in the anterior cerebellar lobes, a projection field of the spinocerebellar tracts, which is an important feature of Gerstmann-Sträussler-Scheinker syndrome.

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Thalamic involvement determined using VSRAD advance on MRI and easy Z-score analysis of 99mTc-ECD-SPECT in Gerstmann-Sträussler-Scheinker syndrome with P102L mutation

Cited by 9 publications

References 21 publications

Clinical Variability in P102L Gerstmann–Sträussler–Scheinker Syndrome

Clinical Variability in P102L Gerstmann–Sträussler–Scheinker Syndrome

Voxel-based Specific Regional Analysis System for Alzheimer’s Disease (VSRAD) on 3-tesla Normal Database: Diagnostic Accuracy in Two Independent Cohorts with Early Alzheimer’s Disease

Correlation between clinical and radiologic features of patients with Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu)

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