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AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

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MR Imaging Features of Adult-Onset Neuronal Intranuclear Inclusion Disease May Be Indistinguishable from Fragile X–Associated Tremor/Ataxia Syndrome

I.G. Padilha, R.H. Nunes, F.A. Scortegagna, J.L. Pedroso, V.H. Marussi, M.R. Rodrigues Gonçalves, O.G.P. Barsottini and A.J. da Rocha
American Journal of Neuroradiology September 2018, 39 (9) E100-E101; DOI: https://doi.org/10.3174/ajnr.A5729
I.G. Padilha
aDivision of Neuroradiology Santa Casa de Sao Paulo School of Medical Sciences Sao Paulo, Brazil
bDivision of Neuroradiology Diagnosticos da America SA Sao Paulo, Brazil
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R.H. Nunes
aDivision of Neuroradiology Santa Casa de Sao Paulo School of Medical Sciences Sao Paulo, Brazil
bDivision of Neuroradiology Diagnosticos da America SA Sao Paulo, Brazil
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  • ORCID record for R.H. Nunes
F.A. Scortegagna
aDivision of Neuroradiology Santa Casa de Sao Paulo School of Medical Sciences Sao Paulo, Brazil
bDivision of Neuroradiology Diagnosticos da America SA Sao Paulo, Brazil
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J.L. Pedroso
cAtaxia Unit, Department of Neurology Universidade Federal de São Paulo Sao Paulo, Brazil
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V.H. Marussi
dDivision of Neuroradiology Med Imagem, Hospital da Beneficencia Portuguesa de Sao Paulo Sao Paulo, Brazil
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M.R. Rodrigues Gonçalves
eDepartment of Neurology Universidade de São Paulo Sao Paulo, Brazil
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  • ORCID record for M.R. Rodrigues Gonçalves
O.G.P. Barsottini
fDivision of Neuroradiology Med Imagem, Hospital da Beneficencia Portuguesa de Sao Paulo Sao Paulo, Brazil
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  • ORCID record for O.G.P. Barsottini
A.J. da Rocha
gDivision of Neuroradiology Santa Casa de Sao Paulo School of Medical Sciences Sao Paulo, Brazil Division of Neuroradiology Diagnosticos da America SA Sao Paulo, Brazil
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    Fig 1.

    Representative case (patient 1). A 49-year-old male patient with a genetically confirmed diagnosis of FXTAS (CGG 115). Coronal (A) and sagittal (B) FLAIR images demonstrate cerebellar atrophy and a high signal intensity in the paravermal area (arrows). C, DWI shows abnormal high-intensity signal along the corticomedullary junction (arrowheads).

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    Fig 2.

    Representative case (patient 2). A 69-year-old male patient with slowly progressive ataxia, tremor, and paraparesis. Axial FLAIR image (A) shows bilateral abnormal high signal intensity in the middle cerebellar peduncles (arrows). Axial DWI (b = 1000 s/mm2) (B) image depicts similar signal changes along the corticomedullary junction (arrowheads). Genetic investigation showed 100 CGG repetition (premutation) of the FMR1 gene, which confirmed FXTAS.

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American Journal of Neuroradiology: 39 (9)
American Journal of Neuroradiology
Vol. 39, Issue 9
1 Sep 2018
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I.G. Padilha, R.H. Nunes, F.A. Scortegagna, J.L. Pedroso, V.H. Marussi, M.R. Rodrigues Gonçalves, O.G.P. Barsottini, A.J. da Rocha
MR Imaging Features of Adult-Onset Neuronal Intranuclear Inclusion Disease May Be Indistinguishable from Fragile X–Associated Tremor/Ataxia Syndrome
American Journal of Neuroradiology Sep 2018, 39 (9) E100-E101; DOI: 10.3174/ajnr.A5729

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MR Imaging Features of Adult-Onset Neuronal Intranuclear Inclusion Disease May Be Indistinguishable from Fragile X–Associated Tremor/Ataxia Syndrome
I.G. Padilha, R.H. Nunes, F.A. Scortegagna, J.L. Pedroso, V.H. Marussi, M.R. Rodrigues Gonçalves, O.G.P. Barsottini, A.J. da Rocha
American Journal of Neuroradiology Sep 2018, 39 (9) E100-E101; DOI: 10.3174/ajnr.A5729
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