000890805 001__ 890805
000890805 005__ 20240625095123.0
000890805 0247_ $$2doi$$a10.1002/acn3.51315
000890805 0247_ $$2Handle$$a2128/27752
000890805 0247_ $$2altmetric$$aaltmetric:102099859
000890805 0247_ $$2pmid$$a33739604
000890805 0247_ $$2WOS$$aWOS:000631659200001
000890805 037__ $$aFZJ-2021-01213
000890805 082__ $$a610
000890805 1001_ $$0P:(DE-HGF)0$$aSchmitz-Hübsch, T.$$b0$$eCorresponding author
000890805 245__ $$aSpinocerebellar ataxia type 14: Refining clinico-genetic diagnosis in a rare adult-onset disorder
000890805 260__ $$aChichester [u.a.]$$bWiley$$c2021
000890805 3367_ $$2DRIVER$$aarticle
000890805 3367_ $$2DataCite$$aOutput Types/Journal article
000890805 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1620303806_24839
000890805 3367_ $$2BibTeX$$aARTICLE
000890805 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000890805 3367_ $$00$$2EndNote$$aJournal Article
000890805 520__ $$aObjectivesGenetic variant classification is a challenge in rare adult‐onset disorders as in SCA‐PRKCG (prior spinocerebellar ataxia type 14) with mostly private conventional mutations and nonspecific phenotype. We here propose a refined approach for clinicogenetic diagnosis by including protein modeling and provide for confirmed SCA‐PRKCG a comprehensive phenotype description from a German multi‐center cohort, including standardized 3D MR imaging.MethodsThis cross‐sectional study prospectively obtained neurological, neuropsychological, and brain imaging data in 33 PRKCG variant carriers. Protein modeling was added as a classification criterion in variants of uncertain significance (VUS).ResultsOur sample included 25 cases confirmed as SCA‐PRKCG (14 variants, thereof seven novel variants) and eight carriers of variants assigned as VUS (four variants) or benign/likely benign (two variants). Phenotype in SCA‐PRKCG included slowly progressive ataxia (onset at 4–50 years), preceded in some by early‐onset nonprogressive symptoms. Ataxia was often combined with action myoclonus, dystonia, or mild cognitive‐affective disturbance. Inspection of brain MRI revealed nonprogressive cerebellar atrophy. As a novel finding, a previously not described T2 hyperintense dentate nucleus was seen in all SCA‐PRKCG cases but in none of the controls.
000890805 536__ $$0G:(DE-HGF)POF4-525$$a525 - Decoding Brain Organization and Dysfunction (POF4-525)$$cPOF4-525$$fPOF IV$$x0
000890805 588__ $$aDataset connected to CrossRef
000890805 7001_ $$0P:(DE-Juel1)131733$$aLux, Silke$$b1
000890805 7001_ $$0P:(DE-HGF)0$$aBauer, P.$$b2
000890805 7001_ $$0P:(DE-HGF)0$$aBrandt, A. U.$$b3
000890805 7001_ $$0P:(DE-HGF)0$$aSchlapakow, E.$$b4
000890805 7001_ $$0P:(DE-HGF)0$$aGreschus, S.$$b5
000890805 7001_ $$0P:(DE-HGF)0$$aScheel, M.$$b6
000890805 7001_ $$0P:(DE-Juel1)172076$$aGärtner, Hanna$$b7
000890805 7001_ $$0P:(DE-Juel1)131652$$aKirlangic, Mehmet Eylem$$b8
000890805 7001_ $$0P:(DE-Juel1)131765$$aGras, Vincent$$b9
000890805 7001_ $$0P:(DE-HGF)0$$aTimmann, D.$$b10
000890805 7001_ $$0P:(DE-HGF)0$$aSynofzik, M.$$b11
000890805 7001_ $$0P:(DE-Juel1)165199$$aGiorgetti, Alejandro$$b12$$ufzj
000890805 7001_ $$0P:(DE-Juel1)145614$$aCarloni, Paolo$$b13$$ufzj
000890805 7001_ $$0P:(DE-Juel1)131794$$aShah, N. J.$$b14$$ufzj
000890805 7001_ $$0P:(DE-HGF)0$$aSchöls, L.$$b15
000890805 7001_ $$0P:(DE-HGF)0$$aKopp, U.$$b16
000890805 7001_ $$0P:(DE-HGF)0$$aBußenius, L.$$b17
000890805 7001_ $$0P:(DE-HGF)0$$aOberwahrenbrock, T.$$b18
000890805 7001_ $$0P:(DE-HGF)0$$aZimmermann, H.$$b19
000890805 7001_ $$0P:(DE-HGF)0$$aPfueller, C.$$b20
000890805 7001_ $$0P:(DE-HGF)0$$aKadas, E. M.$$b21
000890805 7001_ $$0P:(DE-HGF)0$$aRönnefarth, M.$$b22
000890805 7001_ $$0P:(DE-HGF)0$$aGrosch, A. S.$$b23
000890805 7001_ $$0P:(DE-HGF)0$$aEndres, M.$$b24
000890805 7001_ $$0P:(DE-Juel1)131631$$aAmunts, Katrin$$b25$$ufzj
000890805 7001_ $$0P:(DE-HGF)0$$aFriedemann, P.$$b26
000890805 7001_ $$0P:(DE-HGF)0$$aDoss, S.$$b27
000890805 7001_ $$0P:(DE-Juel1)131622$$aMinnerop, Martina$$b28$$eCorresponding author$$ufzj
000890805 773__ $$0PERI:(DE-600)2740696-9$$a10.1002/acn3.51315$$gp. acn3.51315$$n4$$p774-789$$tAnnals of Clinical and Translational Neurology$$v8$$x2328-9503$$y2021
000890805 8564_ $$uhttps://juser.fz-juelich.de/record/890805/files/acn3.51315.pdf$$yOpenAccess
000890805 909CO $$ooai:juser.fz-juelich.de:890805$$pdnbdelivery$$pdriver$$pVDB$$popen_access$$popenaire
000890805 9101_ $$0I:(DE-588b)5008462-8$$6P:(DE-Juel1)165199$$aForschungszentrum Jülich$$b12$$kFZJ
000890805 9101_ $$0I:(DE-588b)5008462-8$$6P:(DE-Juel1)145614$$aForschungszentrum Jülich$$b13$$kFZJ
000890805 9101_ $$0I:(DE-588b)5008462-8$$6P:(DE-Juel1)131794$$aForschungszentrum Jülich$$b14$$kFZJ
000890805 9101_ $$0I:(DE-588b)5008462-8$$6P:(DE-Juel1)131631$$aForschungszentrum Jülich$$b25$$kFZJ
000890805 9101_ $$0I:(DE-588b)5008462-8$$6P:(DE-Juel1)131622$$aForschungszentrum Jülich$$b28$$kFZJ
000890805 9130_ $$0G:(DE-HGF)POF3-571$$1G:(DE-HGF)POF3-570$$2G:(DE-HGF)POF3-500$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bKey Technologies$$lDecoding the Human Brain$$vConnectivity and Activity$$x0
000890805 9131_ $$0G:(DE-HGF)POF4-525$$1G:(DE-HGF)POF4-520$$2G:(DE-HGF)POF4-500$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bKey Technologies$$lNatural, Artificial and Cognitive Information Processing$$vDecoding Brain Organization and Dysfunction$$x0
000890805 9141_ $$y2021
000890805 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2020-09-06
000890805 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2020-09-06
000890805 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2020-09-06
000890805 915__ $$0LIC:(DE-HGF)CCBYNCND4$$2HGFVOC$$aCreative Commons Attribution-NonCommercial-NoDerivs CC BY-NC-ND 4.0
000890805 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bANN CLIN TRANSL NEUR : 2018$$d2020-09-06
000890805 915__ $$0StatID:(DE-HGF)0501$$2StatID$$aDBCoverage$$bDOAJ Seal$$d2020-09-06
000890805 915__ $$0StatID:(DE-HGF)0500$$2StatID$$aDBCoverage$$bDOAJ$$d2020-09-06
000890805 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2020-09-06
000890805 915__ $$0StatID:(DE-HGF)0700$$2StatID$$aFees$$d2020-09-06
000890805 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2020-09-06
000890805 915__ $$0StatID:(DE-HGF)9900$$2StatID$$aIF < 5$$d2020-09-06
000890805 915__ $$0StatID:(DE-HGF)0510$$2StatID$$aOpenAccess
000890805 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2020-09-06
000890805 915__ $$0StatID:(DE-HGF)0561$$2StatID$$aArticle Processing Charges$$d2020-09-06
000890805 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2020-09-06
000890805 915__ $$0StatID:(DE-HGF)0320$$2StatID$$aDBCoverage$$bPubMed Central$$d2020-09-06
000890805 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2020-09-06
000890805 9201_ $$0I:(DE-Juel1)INM-1-20090406$$kINM-1$$lStrukturelle und funktionelle Organisation des Gehirns$$x0
000890805 9201_ $$0I:(DE-Juel1)IAS-5-20120330$$kIAS-5$$lComputational Biomedicine$$x1
000890805 9201_ $$0I:(DE-Juel1)INM-9-20140121$$kINM-9$$lComputational Biomedicine$$x2
000890805 9201_ $$0I:(DE-Juel1)INM-4-20090406$$kINM-4$$lPhysik der Medizinischen Bildgebung$$x3
000890805 9201_ $$0I:(DE-Juel1)INM-11-20170113$$kINM-11$$lJara-Institut Quantum Information$$x4
000890805 9201_ $$0I:(DE-Juel1)VDB1046$$kJARA-BRAIN$$lJülich-Aachen Research Alliance - Translational Brain Medicine$$x5
000890805 980__ $$ajournal
000890805 980__ $$aVDB
000890805 980__ $$aUNRESTRICTED
000890805 980__ $$aI:(DE-Juel1)INM-1-20090406
000890805 980__ $$aI:(DE-Juel1)IAS-5-20120330
000890805 980__ $$aI:(DE-Juel1)INM-9-20140121
000890805 980__ $$aI:(DE-Juel1)INM-4-20090406
000890805 980__ $$aI:(DE-Juel1)INM-11-20170113
000890805 980__ $$aI:(DE-Juel1)VDB1046
000890805 9801_ $$aFullTexts