Gerstmann-Str?ussler-Scheinker disease: A case report
|
摘要
BACKGROUND Gerstmann-Str?ussler-Scheinker(GSS) disease is an inherited prion disease that is clinically characterized by the early onset of progressive cerebellar ataxia. The incidence of GSS is extremely low and it is particularly rare in China. Therefore,clinicians may easily confuse this disease with other diseases that also cause ataxia, resulting in its under-diagnosis or misdiagnosis.CASE SUMMARY Here, we report the first case of genetically diagnosed GSS disease in Northeast China. The patient exhibited typical ataxia and dysarthria 2.5 years after symptom onset. However, magnetic resonance imaging of the brain and spinal cord revealed a normal anatomy. Screening results for the spinocerebellar ataxia gene were also negative. We thus proposed to expand the scope of genetic screening to include over 200 mutations that can cause ataxia. A final diagnosis of GSS was presented and the patient was followed for more than 3.5 years, during which we noted imaging abnormalities. The patient gradually exhibited decorticate posturing and convulsions. We recommended administration of oral sodium valproate, which resolved the convulsions.CONCLUSION Patients with inherited ataxia should be considered for a diagnosis of GSS via genetic testing at an early disease stage.
BACKGROUND Gerstmann-Str?ussler-Scheinker(GSS) disease is an inherited prion disease that is clinically characterized by the early onset of progressive cerebellar ataxia. The incidence of GSS is extremely low and it is particularly rare in China. Therefore,clinicians may easily confuse this disease with other diseases that also cause ataxia, resulting in its under-diagnosis or misdiagnosis.CASE SUMMARY Here, we report the first case of genetically diagnosed GSS disease in Northeast China. The patient exhibited typical ataxia and dysarthria 2.5 years after symptom onset. However, magnetic resonance imaging of the brain and spinal cord revealed a normal anatomy. Screening results for the spinocerebellar ataxia gene were also negative. We thus proposed to expand the scope of genetic screening to include over 200 mutations that can cause ataxia. A final diagnosis of GSS was presented and the patient was followed for more than 3.5 years, during which we noted imaging abnormalities. The patient gradually exhibited decorticate posturing and convulsions. We recommended administration of oral sodium valproate, which resolved the convulsions.CONCLUSION Patients with inherited ataxia should be considered for a diagnosis of GSS via genetic testing at an early disease stage.
BACKGROUND Gerstmann-Str?ussler-Scheinker(GSS) disease is an inherited prion disease that is clinically characterized by the early onset of progressive cerebellar ataxia. The incidence of GSS is extremely low and it is particularly rare in China. Therefore,clinicians may easily confuse this disease with other diseases that also cause ataxia, resulting in its under-diagnosis or misdiagnosis.CASE SUMMARY Here, we report the first case of genetically diagnosed GSS disease in Northeast China. The patient exhibited typical ataxia and dysarthria 2.5 years after symptom onset. However, magnetic resonance imaging of the brain and spinal cord revealed a normal anatomy. Screening results for the spinocerebellar ataxia gene were also negative. We thus proposed to expand the scope of genetic screening to include over 200 mutations that can cause ataxia. A final diagnosis of GSS was presented and the patient was followed for more than 3.5 years, during which we noted imaging abnormalities. The patient gradually exhibited decorticate posturing and convulsions. We recommended administration of oral sodium valproate, which resolved the convulsions.CONCLUSION Patients with inherited ataxia should be considered for a diagnosis of GSS via genetic testing at an early disease stage.
引文
1 Doh-ura K,Tateishi J,Sasaki H,Kitamoto T,Sakaki Y.Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Str?ussler syndrome.Biochem Biophys Res Commun 1989;163:974-979[PMID:2783132 DOI:10.1016/0006-291X(89)92317-6]
2 Gambetti P,Kong Q,Zou W,Parchi P,Chen SG.Sporadic and familial CJD:classification and characterisation.Br Med Bull 2003;66:213-239[PMID:14522861 DOI:10.1093/bmb/66.1.213]
3 Kovács GG,Puopolo M,Ladogana A,Pocchiari M,Budka H,van Duijn C,Collins SJ,Boyd A,Giulivi A,Coulthart M,Delasnerie-Laupretre N,Brandel JP,Zerr I,Kretzschmar HA,de Pedro-Cuesta J,CaleroLara M,Glatzel M,Aguzzi A,Bishop M,Knight R,Belay G,Will R,Mitrova E;EUROCJD.Genetic prion disease:the EUROCJD experience.Hum Genet 2005;118:166-174[PMID:16187142 DOI:10.1007/s00439-005-0020-1]
4 Collins S,McLean CA,Masters CL.Gerstmann-Str?ussler-Scheinker syndrome,fatal familial insomnia,and kuru:a review of these less common human transmissible spongiform encephalopathies.J Clin Neurosci 2001;8:387-397[PMID:11535002 DOI:10.1054/jocn.2001.0919]
5 Young K,Jones CK,Piccardo P,Lazzarini A,Golbe LI,Zimmerman TR,Dickson DW,McLachlan DC,St George-Hyslop P,Lennox A.Gerstmann-Str?ussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.Neurology 1995;45:1127-1134[PMID:7783876 DOI:10.1212/WNL.45.6.1127]
6 Hainfellner JA,Brantner-Inthaler S,CervenákováL,Brown P,Kitamoto T,Tateishi J,Diringer H,Liberski PP,Regele H,Feucht M.The original Gerstmann-Str?ussler-Scheinker family of Austria:divergent clinicopathological phenotypes but constant PrP genotype.Brain Pathol 1995;5:201-211[PMID:8520719 DOI:10.1111/j.1750-3639.1995.tb00596.x]
7 Kretzschmar HA,Honold G,Seitelberger F,Feucht M,Wessely P,Mehraein P,Budka H.Prion protein mutation in family first reported by Gerstmann,Str?ussler,and Scheinker.Lancet 1991;337:1160[PMID:1674033 DOI:10.1016/0140-6736(91)92826-N]
8 Lin SH,Jiang XM,Zhao JX,Han MF,Song XN,Xin C.Gerstmann-Str?ussler-Scheinker syndrome--clinical manifestation,pathology and immunohistochemistry of 5 patients in two generations,and experimental research on animal inoculation.J Clin Neurol 1993;200-202
9 Ghetti B,Tagliavini F,Takao M,Bugiani O,Piccardo P.Hereditary prion protein amyloidoses.Clin Lab Med 2003;23:65-85,viii[PMID:12733425 DOI:10.1016/S0272-2712(02)00064-1]
10 Long L,Cai X,Shu Y,Lu Z.A family with hereditary cerebellar ataxia finally confirmed as GerstmannStraussler-Scheinker syndrome with P102L mutation in PRNP gene.Neurosciences(Riyadh)2017;22:138-142[PMID:28416787 DOI:10.17712/nsj.2017.2.20160522]
11 Wang Y,Qiao XY,Zhao CB,Gao X,Yao ZW,Qi L,Lu CZ.Report on the first Chinese family with Gerstmann-Str?ussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene.Neuropathology 2006;26:429-432[PMID:17080720 DOI:10.1111/j.1440-1789.2006.00704.x]
12 Li HF,Liu ZJ,Dong HL,Xie JJ,Zhao SY,Ni W,Dong Y,Wu ZY.Clinical features of Chinese patients with Gerstmann-Str?ussler-Scheinker identified by targeted next-generation sequencing.Neurobiol Aging2017;49:216.e1-216.e5[PMID:28340953 DOI:10.1016/j.neurobiolaging.2016.09.018]
13 Chi NF,Lee YC,Lu YC,Wu HM,Soong BW.Transmissible spongiform encephalopathies with P102Lmutation of PRNP manifesting different phenotypes:clinical,neuroimaging,and electrophysiological studies in Chinese kindred in Taiwan.J Neurol 2010;257:191-197[PMID:19696976 DOI:10.1007/s00415-009-5290-4]
14 Parchi P,Saverioni D.Molecular pathology,classification,and diagnosis of sporadic human prion disease variants.Folia Neuropathol 2012;50:20-45[PMID:22505361 DOI:10.1042/AN20110031]
15 Sugiyama A,Sato N,Kimura Y,Maekawa T,Wakasugi N,Sone D,Enokizono M,Takahashi Y,Murata M,Mizusawa H,Matsuda H.Thalamic involvement determined using VSRAD advance on MRI and easy Z-score analysis of 99m Tc-ECD-SPECT in Gerstmann-Str?ussler-Scheinker syndrome with P102Lmutation.J Neurol Sci 2017;373:27-30[PMID:28131204 DOI:10.1016/j.jns.2016.12.021]
16 Konaka K,Kaido M,Okuda Y,Aoike F,Abe K,Kitamoto T,Yanagihara T.Proton magnetic resonance spectroscopy of a patient with Gerstmann-Straussler-Scheinker disease.Neuroradiology 2000;42:662-665[PMID:11071439 DOI:10.1007/s002340000371]
17 Abdel Razek AA,Castillo M.Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.JComput Assist Tomogr 2016;40:14-25[PMID:26599961 DOI:10.1097/RCT.0000000000000340]
18 Cagnoli C,Brussino A,Sbaiz L,Di Gregorio E,Atzori C,Caroppo P,Orsi L,Migone N,Buffa C,Imperiale D,Brusco A.A previously undiagnosed case of Gerstmann-Str?ussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia.Mov Disord 2008;23:1468-1471[PMID:18566986 DOI:10.1002/mds.21953]
19 Woulfe J,Kertesz A,Frohn I,Bauer S,George-Hyslop PS,Bergeron C.Gerstmann-Str?ussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia.Acta Neuropathol 2005;110:317-319[PMID:16025285 DOI:10.1007/s00401-005-1054-0]
20 Karmon Y,Kurzweil A,Lindzen E,Holmlund T,Weinstock-Guttman B.Gerstmann-Str?ussler-Scheinker syndrome masquerading as multiple sclerosis.J Neurol Sci 2011;309:55-57[PMID:21839476 DOI:10.1016/j.jns.2011.07.028]
21 Webb TE,Poulter M,Beck J,Uphill J,Adamson G,Campbell T,Linehan J,Powell C,Brandner S,Pal S,Siddique D,Wadsworth JD,Joiner S,Alner K,Petersen C,Hampson S,Rhymes C,Treacy C,Storey E,Geschwind MD,Nemeth AH,Wroe S,Collinge J,Mead S.Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.Brain 2008;131:2632-2646[PMID:18757886 DOI:10.1093/brain/awn202]
2 Gambetti P,Kong Q,Zou W,Parchi P,Chen SG.Sporadic and familial CJD:classification and characterisation.Br Med Bull 2003;66:213-239[PMID:14522861 DOI:10.1093/bmb/66.1.213]
3 Kovács GG,Puopolo M,Ladogana A,Pocchiari M,Budka H,van Duijn C,Collins SJ,Boyd A,Giulivi A,Coulthart M,Delasnerie-Laupretre N,Brandel JP,Zerr I,Kretzschmar HA,de Pedro-Cuesta J,CaleroLara M,Glatzel M,Aguzzi A,Bishop M,Knight R,Belay G,Will R,Mitrova E;EUROCJD.Genetic prion disease:the EUROCJD experience.Hum Genet 2005;118:166-174[PMID:16187142 DOI:10.1007/s00439-005-0020-1]
4 Collins S,McLean CA,Masters CL.Gerstmann-Str?ussler-Scheinker syndrome,fatal familial insomnia,and kuru:a review of these less common human transmissible spongiform encephalopathies.J Clin Neurosci 2001;8:387-397[PMID:11535002 DOI:10.1054/jocn.2001.0919]
5 Young K,Jones CK,Piccardo P,Lazzarini A,Golbe LI,Zimmerman TR,Dickson DW,McLachlan DC,St George-Hyslop P,Lennox A.Gerstmann-Str?ussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.Neurology 1995;45:1127-1134[PMID:7783876 DOI:10.1212/WNL.45.6.1127]
6 Hainfellner JA,Brantner-Inthaler S,CervenákováL,Brown P,Kitamoto T,Tateishi J,Diringer H,Liberski PP,Regele H,Feucht M.The original Gerstmann-Str?ussler-Scheinker family of Austria:divergent clinicopathological phenotypes but constant PrP genotype.Brain Pathol 1995;5:201-211[PMID:8520719 DOI:10.1111/j.1750-3639.1995.tb00596.x]
7 Kretzschmar HA,Honold G,Seitelberger F,Feucht M,Wessely P,Mehraein P,Budka H.Prion protein mutation in family first reported by Gerstmann,Str?ussler,and Scheinker.Lancet 1991;337:1160[PMID:1674033 DOI:10.1016/0140-6736(91)92826-N]
8 Lin SH,Jiang XM,Zhao JX,Han MF,Song XN,Xin C.Gerstmann-Str?ussler-Scheinker syndrome--clinical manifestation,pathology and immunohistochemistry of 5 patients in two generations,and experimental research on animal inoculation.J Clin Neurol 1993;200-202
9 Ghetti B,Tagliavini F,Takao M,Bugiani O,Piccardo P.Hereditary prion protein amyloidoses.Clin Lab Med 2003;23:65-85,viii[PMID:12733425 DOI:10.1016/S0272-2712(02)00064-1]
10 Long L,Cai X,Shu Y,Lu Z.A family with hereditary cerebellar ataxia finally confirmed as GerstmannStraussler-Scheinker syndrome with P102L mutation in PRNP gene.Neurosciences(Riyadh)2017;22:138-142[PMID:28416787 DOI:10.17712/nsj.2017.2.20160522]
11 Wang Y,Qiao XY,Zhao CB,Gao X,Yao ZW,Qi L,Lu CZ.Report on the first Chinese family with Gerstmann-Str?ussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene.Neuropathology 2006;26:429-432[PMID:17080720 DOI:10.1111/j.1440-1789.2006.00704.x]
12 Li HF,Liu ZJ,Dong HL,Xie JJ,Zhao SY,Ni W,Dong Y,Wu ZY.Clinical features of Chinese patients with Gerstmann-Str?ussler-Scheinker identified by targeted next-generation sequencing.Neurobiol Aging2017;49:216.e1-216.e5[PMID:28340953 DOI:10.1016/j.neurobiolaging.2016.09.018]
13 Chi NF,Lee YC,Lu YC,Wu HM,Soong BW.Transmissible spongiform encephalopathies with P102Lmutation of PRNP manifesting different phenotypes:clinical,neuroimaging,and electrophysiological studies in Chinese kindred in Taiwan.J Neurol 2010;257:191-197[PMID:19696976 DOI:10.1007/s00415-009-5290-4]
14 Parchi P,Saverioni D.Molecular pathology,classification,and diagnosis of sporadic human prion disease variants.Folia Neuropathol 2012;50:20-45[PMID:22505361 DOI:10.1042/AN20110031]
15 Sugiyama A,Sato N,Kimura Y,Maekawa T,Wakasugi N,Sone D,Enokizono M,Takahashi Y,Murata M,Mizusawa H,Matsuda H.Thalamic involvement determined using VSRAD advance on MRI and easy Z-score analysis of 99m Tc-ECD-SPECT in Gerstmann-Str?ussler-Scheinker syndrome with P102Lmutation.J Neurol Sci 2017;373:27-30[PMID:28131204 DOI:10.1016/j.jns.2016.12.021]
16 Konaka K,Kaido M,Okuda Y,Aoike F,Abe K,Kitamoto T,Yanagihara T.Proton magnetic resonance spectroscopy of a patient with Gerstmann-Straussler-Scheinker disease.Neuroradiology 2000;42:662-665[PMID:11071439 DOI:10.1007/s002340000371]
17 Abdel Razek AA,Castillo M.Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.JComput Assist Tomogr 2016;40:14-25[PMID:26599961 DOI:10.1097/RCT.0000000000000340]
18 Cagnoli C,Brussino A,Sbaiz L,Di Gregorio E,Atzori C,Caroppo P,Orsi L,Migone N,Buffa C,Imperiale D,Brusco A.A previously undiagnosed case of Gerstmann-Str?ussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia.Mov Disord 2008;23:1468-1471[PMID:18566986 DOI:10.1002/mds.21953]
19 Woulfe J,Kertesz A,Frohn I,Bauer S,George-Hyslop PS,Bergeron C.Gerstmann-Str?ussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia.Acta Neuropathol 2005;110:317-319[PMID:16025285 DOI:10.1007/s00401-005-1054-0]
20 Karmon Y,Kurzweil A,Lindzen E,Holmlund T,Weinstock-Guttman B.Gerstmann-Str?ussler-Scheinker syndrome masquerading as multiple sclerosis.J Neurol Sci 2011;309:55-57[PMID:21839476 DOI:10.1016/j.jns.2011.07.028]
21 Webb TE,Poulter M,Beck J,Uphill J,Adamson G,Campbell T,Linehan J,Powell C,Brandner S,Pal S,Siddique D,Wadsworth JD,Joiner S,Alner K,Petersen C,Hampson S,Rhymes C,Treacy C,Storey E,Geschwind MD,Nemeth AH,Wroe S,Collinge J,Mead S.Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.Brain 2008;131:2632-2646[PMID:18757886 DOI:10.1093/brain/awn202]