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Findings in the Gerstmann–Sträussler–Scheinker syndrome in an 18F-FDG PET-CT study
Hallazgos en el síndrome de Gerstmann-Sträussler-Scheinker en un estudio de PET-TC con 18F-FDG
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"apellidos" => "Carrió" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servei de Medicina Nuclear, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain" "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servei de Radiodiagnostic, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain" "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Hallazgos en el síndrome de Gerstmann-Sträussler-Scheinker en un estudio de PET-TC con <span class="elsevierStyleSup">18</span>F-FDG" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1958 "Ancho" => 1667 "Tamanyo" => 144532 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">PET/CT study with <span class="elsevierStyleSup">18</span>F-FDG (axial slices) showing severe decrease of glycidic metabolism in both basal ganglia and both thalamus (A) as well as marked hypometabolism in the cerebellum and encephalic trunk (B).</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">The Gerstmann–Sträussler–Scheinker syndrome (GSSS) is a hereditary variant of the prion diseases characterized by cerebellous ataxia, cognitive deterioration, spastic paraparesia and movement disorders. The onset of this syndrome is in the second decade of life but it may appear at 60 years.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> It is related to different alterations in the <span class="elsevierStyleItalic">PRNP</span> gene, with a point mutation in the P102L2 being the most frequent.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">We present the case of a 50-year-old patient who died one year after diagnosis of GSSS with a clinical picture consistent with ataxic gait which progresses until daily activities are impeded, marked behavioral disinhibition in all aspects and dysphagia due to progressive spasticity until the need for gastrostomy for nutrition. The patient presented positive protein 14.3.3 in CSF (characteristic of human prion diseases) and a point mutation in the <span class="elsevierStyleItalic">P102L</span> gene. Necropsy was not performed after death due to refusal of the family.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The MR showed increased signal intensity in the cerebellum, basal ganglia (caudate and putamen nucleus), thalamic and hippocampal pulvinars, visible in diffusion sequences (DWI) with restriction of the apparent diffusion coefficients (ADC) (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>A–D) as well as in T2-weighted and FLAIR sequences. Positron emission tomography study (<span class="elsevierStyleSup">18</span>FDG-PET/TC) showed homogeneity and marked reduction of glycidic metabolism in the basal ganglia and thalamus as well as in the cerebellum and encephalic trunk (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>A and B), without cortical involvement. All these findings correlated with the clinical manifestations of the patient.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">From the point of view of the glycidic metabolism, all these findings are little characteristic of the classical encephalopathy by prions (sporadic or familial Creutzfeld–Jacob disease) given the absence of cortical involvement. Alterations in the neocortex, basal ganglia and/or thalamus are described in the PET with <span class="elsevierStyleSup">18</span>F-FDG in GSSS. In our case, the notable, homogeneous cerebellous hypometabolism was of note which, to date, has been described as a region affected in post-mortem histology and in some studies performed with amyloid plaque tracers such as <span class="elsevierStyleSup">18</span>F-FDDNP, but have not, until now, been reported in a study with <span class="elsevierStyleSup">18</span>F-FDG.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,3</span></a> The greater diagnostic commitment and achievement obtained with PET/CT with <span class="elsevierStyleSup">18</span>F-FDG compared to images obtained with MR is of note.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">Although there is currently no specific treatment for this encephalopathy and the outcome is always fatal, early diagnosis such as that which may be obtained with a PET/CT study with <span class="elsevierStyleSup">18</span>F-FDG may provide early accompaniment and family support in the management of this disease.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2012-02-28" "fechaAceptado" => "2012-04-06" "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara">Please cite this article as: Achury C, et al. Hallazgos en el síndrome de Gerstmann-Sträussler-Scheinker en un estudio de PET-TC con 18F-FDG. Rev Esp Med Nucl Imagen Mol. 2012;<span class="elsevierStyleBold">31(6)</span>:352–3.</p>" ] ] "multimedia" => array:2 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 2103 "Ancho" => 1663 "Tamanyo" => 154268 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Axial slices of the MR study (DWI and ADC) showing increased signal intensity in the basal ganglia (caudal and putamen nucleus) (A), in the thalamic pulvinars (B), and in the cerebellous hemispheres (C and D), with restriction of the ADC in these localizations.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1958 "Ancho" => 1667 "Tamanyo" => 144532 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">PET/CT study with <span class="elsevierStyleSup">18</span>F-FDG (axial slices) showing severe decrease of glycidic metabolism in both basal ganglia and both thalamus (A) as well as marked hypometabolism in the cerebellum and encephalic trunk (B).</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "Bibliografía" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:3 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Gerstmann–Sträussler–Scheinker syndrome, fatal familial insomnia, and kuru: a review of these less common human transmissible spongiform encephalopathies" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "S. 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Carmona-Abellán" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.nrl.2011.03.012" "Revista" => array:3 [ "tituloSerie" => "Neurología" "fecha" => "2011" "itemHostRev" => array:3 [ "pii" => "S0140673602119118" "estado" => "S300" "issn" => "01406736" ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "PET of brain prion protein amyloid in Gerstmann–Sträussler–Scheinker disease" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "V. Kepe" 1 => "B. Ghetti" 2 => "R. Martin" 3 => "M.R. Farlow" 4 => "M. Bresjanac" 5 => "K. Miller" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1111/j.1750-3639.2009.00306.x" "Revista" => array:6 [ "tituloSerie" => "Brain Pathol" "fecha" => "2010" "volumen" => "20" "paginaInicial" => "419" "paginaFinal" => "430" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/19725833" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/22538089/0000003100000006/v1_201305061136/S2253808912000894/v1_201305061136/en/main.assets" "Apartado" => array:4 [ "identificador" => "7927" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Interesting images" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/22538089/0000003100000006/v1_201305061136/S2253808912000894/v1_201305061136/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2253808912000894?idApp=UINPBA00004N" ]
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|---|---|---|---|
| 2018 February | 3 | 2 | 5 |
| 2018 January | 7 | 1 | 8 |
| 2017 December | 6 | 1 | 7 |
| 2017 November | 6 | 3 | 9 |
| 2017 October | 10 | 1 | 11 |
| 2017 September | 19 | 5 | 24 |
| 2017 August | 10 | 1 | 11 |
| 2017 July | 13 | 2 | 15 |
| 2017 June | 14 | 3 | 17 |
| 2017 May | 12 | 1 | 13 |
| 2017 April | 13 | 1 | 14 |
| 2017 March | 15 | 25 | 40 |
| 2017 February | 9 | 2 | 11 |
| 2017 January | 14 | 1 | 15 |
| 2016 December | 6 | 10 | 16 |
| 2016 November | 16 | 3 | 19 |
| 2016 October | 27 | 7 | 34 |
| 2016 September | 11 | 1 | 12 |
| 2016 August | 12 | 4 | 16 |
| 2016 July | 11 | 2 | 13 |
| 2016 June | 14 | 4 | 18 |
| 2016 May | 16 | 7 | 23 |
| 2016 April | 20 | 6 | 26 |
| 2016 March | 22 | 13 | 35 |
| 2016 February | 14 | 12 | 26 |
| 2016 January | 14 | 10 | 24 |
| 2015 December | 13 | 9 | 22 |
| 2015 November | 15 | 12 | 27 |
| 2015 October | 18 | 21 | 39 |
| 2015 September | 17 | 9 | 26 |
| 2015 August | 33 | 4 | 37 |
| 2015 July | 28 | 2 | 30 |
| 2015 June | 12 | 1 | 13 |
| 2015 May | 10 | 1 | 11 |
| 2015 April | 16 | 8 | 24 |
| 2015 March | 28 | 7 | 35 |
| 2015 February | 10 | 1 | 11 |
| 2015 January | 31 | 1 | 32 |
| 2014 December | 31 | 6 | 37 |
| 2014 November | 16 | 2 | 18 |
| 2014 October | 33 | 3 | 36 |
| 2014 September | 15 | 1 | 16 |
| 2014 August | 15 | 2 | 17 |
| 2014 July | 20 | 5 | 25 |
| 2014 June | 16 | 2 | 18 |
| 2014 May | 14 | 3 | 17 |
| 2014 April | 11 | 2 | 13 |
| 2014 March | 10 | 1 | 11 |
| 2014 February | 13 | 2 | 15 |
| 2014 January | 19 | 1 | 20 |
| 2013 December | 21 | 4 | 25 |
| 2013 November | 18 | 1 | 19 |
| 2013 July | 1 | 0 | 1 |
| 2013 June | 1 | 0 | 1 |
| 2013 May | 3 | 0 | 3 |
Show all
