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Case Reports
. 2018 Aug 22:9:695.
doi: 10.3389/fneur.2018.00695. eCollection 2018.

Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia

Jessica L Famula  1   2 , Forrest McKenzie  1   2 , Yingratana A McLennan  1   2 , James Grigsby  3 , Flora Tassone  1   4 , David Hessl  1   2 , Susan M Rivera  1   5 , Veronica Martinez-Cerdeno  1   6   7 , Randi J Hagerman  1   8
Affiliations
Case Reports

Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia

Jessica L Famula et al. Front Neurol. .

Abstract

Here we report five cases of male FMR1 premutation carriers who present without clinical symptoms of the fragile X-associated tremor/ataxia syndrome (FXTAS), but who on MRI demonstrate white matter hyperintensities in the middle cerebellar peduncles (MCP sign) and other brain regions, a rare finding. MCP sign is the major radiological feature of FXTAS; it is therefore remarkable to identify five cases in which this MRI finding is present in the absence of tremor and ataxia, the major clinical features of FXTAS. Subjects underwent a detailed neurological evaluation, neuropsychological testing, molecular testing, and MRI evaluation utilizing T2 imaging described here. Additional white matter disease was present in the corpus callosum in four of the five cases. However, all cases were asymptomatic for motor signs of FXTAS.

Keywords: FMR1 premutation; FXTAS; MCP sign; MRI; movement disorder.

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Figures

Figure 1
Figure 1
MRI Evidence of MCP Sign for Cases 1–5. (A) Axial view of Case 1 showing a hyperintensity of the MCP. (B) Axial view of Case 2 showing a hyperintensity of the MCP. (C) Axial view of Case 3 showing a hyperintensity of the MCP. (D) Axial view of Case 4 showing a hyperintensity of the MCP at age 60. (E) Axial view of Case 4 showing a hyperintensity of the MCP at age 64. (F) Axial view of Case 5 showing a hyperintensity of the MCP.
See this image and copyright information in PMC

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References

    1. Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, et al. . Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology (2001) 57:127–30. 10.1212/WNL.57.1.127 - DOI - PubMed
    1. Hagerman RJ, Hagerman P. Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management. Nat Rev Neurol. (2016) 12:403–12. 10.1038/nrneurol.2016.82 - DOI - PubMed
    1. Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, et al. . Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA (2004) 291:460–9. 10.1001/jama.291.4.460 - DOI - PubMed
    1. Rodriguez-Revenga L, Madrigal I, Pagonabarraga J, Xuncla M, Badenas C, Kulisevsky J, et al. . Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Eur J Hum Genet. (2009) 17:1359–62. 10.1038/ejhg.2009.51 - DOI - PMC - PubMed
    1. Robertson EE, Hall DA, McAsey AR, O'Keefe JA. Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders. Clin Neuropsychol. (2016) 30:849–900. 10.1080/13854046.2016.1202239 - DOI - PMC - PubMed

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