Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice

Mathilde Renaud, Julien Perriard, Sarah Coudray, Mathieu Sévin-Allouet, Christophe Marcel, Wassilios G. Meissner, Jean-Baptiste Chanson, Nicolas Collongues, Nathalie Philippi, Odile Gebus, Véronique Quenardelle, Anna Castrioto, Paul Krack, Karine N’Guyen, François Lefebvre, Andoni Echaniz-Laguna, Jean-Philippe Azulay, Nicolas Meyer, Pierre Labauge, Christine Tranchant, Mathieu Anheim
J Neurol. 2014-12-02; 262(2): 435-442
DOI: 10.1007/s00415-014-7557-7

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1. J Neurol. 2015 Feb;262(2):435-42. doi: 10.1007/s00415-014-7557-7. Epub 2014 Dec

Relevance of corpus callosum splenium versus middle cerebellar peduncle
hyperintensity for FXTAS diagnosis in clinical practice.

Renaud M(1), Perriard J, Coudray S, Sévin-Allouet M, Marcel C, Meissner WG,
Chanson JB, Collongues N, Philippi N, Gebus O, Quenardelle V, Castrioto A, Krack
P, N’Guyen K, Lefebvre F, Echaniz-Laguna A, Azulay JP, Meyer N, Labauge P,
Tranchant C, Anheim M.

Author information:
(1)Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de
Strasbourg, 1 Avenue Molière, 67098, Strasbourg Cedex, France.

Fragile X-associated tremor ataxia syndrome (FXTAS) is caused by FMR1
premutation. The features include ataxia, action tremor and middle cerebellar
peduncle (MCP) hyperintensity, the latter being the only major radiological
criterion in the diagnosis of definite FXTAS until very recently. The importance
of corpus callosum splenium (CCS) hyperintensity was recently reported and this
sign is now considered as an additional major radiological diagnostic criterion
in the diagnosis of FXTAS. However, little is known about its relevance for the
diagnosis of FXTAS in clinical practice. We report a practical justification of
the relevance of CCS hyperintensity in parallel with MCP hyperintensity for the
diagnosis of FXTAS. Clinical and radiological study of 22 FMR1 premutation
carriers with neurological signs that may be encountered in FXTAS compared to
series of patients with essential tremor, multiple system atrophy of cerebellar
type, Parkinson’s disease, Alzheimer’s disease and stroke. Among the 22 patients
with FMR1 premutation [17 men, 5 women; mean age, 63 ± 7.5 (46-84)], 14 were
diagnosed with definite FXTAS with the initial criteria. Considering CCS
hyperintensity as a new major radiological criterion permitted the diagnosis of
definite FXTAS in 3 additional patients. Overall CCS proved as frequent as MCP
hyperintensity (64 versus 64 %), while 23 % of patients had CCS but not MCP
hyperintensity, 14 % of patients had CCS hyperintensity but neither MCP, nor
brainstem hyperintensity. In contrast with CCS hyperintensity, MCP hyperintensity
proved less frequent in women than in men. CCS and MCP hyperintensity were more
frequent in FXTAS than in the other neurodegenerative disorders. The combination
of CCS and MCP hyperintensity was specific of FXTAS. We confirmed the relevance
of CCS hyperintensity in FXTAS and we clarified its interest compared to MCP
hyperintensity. Our results support the inclusion of CCS hyperintensity in the
diagnostic criteria as a new major radiological criterion.

DOI: 10.1007/s00415-014-7557-7
PMID: 25451852 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus