New insights and the need for revised diagnostic criteria

E. Apartis, A. Blancher, W. G. Meissner, L. Guyant-Marechal, D. Maltete, T. De Broucker, A.-P. Legrand, H. Bouzenada, H. T. Thanh, M. Sallansonnet-Froment, A. Wang, F. Tison, C. Roue-Jagot, F. Sedel, P. Charles, S. Whalen, D. Heron, S. Thobois, A. Poisson, G. Lesca, A.-M. Ouvrard-Hernandez, V. Fraix, S. Palfi, M.-O. Habert, B. Gaymard, J.-C. Dussaule, P. Pollak, M. Vidailhet, A. Durr, J.-C. Barbot, V. Gourlet, A. Brice, M. Anheim
Neurology. 2012-10-17; 79(18): 1898-1907
DOI: 10.1212/WNL.0b013e318271f7ff

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1. Neurology. 2012 Oct 30;79(18):1898-907. doi: 10.1212/WNL.0b013e318271f7ff. Epub
2012 Oct 17.

FXTAS: new insights and the need for revised diagnostic criteria.

Apartis E(1), Blancher A, Meissner WG, Guyant-Maréchal L, Maltête D, De Broucker
T, Legrand AP, Bouzenada H, Thanh HT, Sallansonnet-Froment M, Wang A, Tison F,
Roué-Jagot C, Sedel F, Charles P, Whalen S, Héron D, Thobois S, Poisson A, Lesca
G, Ouvrard-Hernandez AM, Fraix V, Palfi S, Habert MO, Gaymard B, Dussaule JC,
Pollak P, Vidailhet M, Durr A, Barbot JC, Gourlet V, Brice A, Anheim M.

Author information:
(1)AP-HP, Paris, France.

OBJECTIVE: Fragile X-associated tremor ataxia syndrome (FXTAS) is defined by FMR1
premutation, cerebellar ataxia, intentional tremor, and middle cerebellar
peduncle (MCP) hyperintensities. We delineate the clinical, neurophysiologic, and
morphologic characteristics of FXTAS.
METHODS: Clinical, morphologic (brain MRI, (123)I-ioflupane SPECT), and
neurophysiologic (tremor recording, nerve conduction studies) study in 22
patients with FXTAS, including 4 women.
RESULTS: A total of 43% of patients had no family history of fragile X syndrome
(FXS), which contrasts with previous FXTAS series. A total of 86% of patients had
tremor and 81% peripheral neuropathy. We identified 3 electroclinical tremor
patterns: essential-like (35%), cerebellar (29%), and parkinsonian (12%). Two
electrophysiologic patterns evocative of non-length-dependent (56%) and
length-dependent sensory neuropathy (25%) were identified. Corpus callosum
splenium (CCS) hyperintensity was as frequent (68%) as MCP hyperintensities
(64%). Sixty percent of patients had parkinsonism and 47% abnormal
(123)I-ioflupane SPECT. Unified Parkinson’s Disease Rating Scale motor score was
correlated to abnormal (123)I-ioflupane SPECT (p = 0.02) and to CGG repeat number
(p = 0.0004). Scale for the assessment and rating of ataxia correlated with
dentate nuclei hyperintensities (p = 0.03) and CCS hyperintensity was a marker of
severe disease progression (p = 0.04).
CONCLUSIONS: We recommend to include in the FXTAS testing guidelines both CCS
hyperintensity and peripheral neuropathy and to consider them as new major
radiologic and minor clinical criterion, respectively, for the diagnosis of
FXTAS. FXTAS should also be considered in women or when tremor, MCP
hyperintensities, or family history of FXS are lacking. Our study broadens the
spectrum of tremor, peripheral neuropathy, and MRI abnormalities in FXTAS, hence
revealing the need for revised criteria.

DOI: 10.1212/WNL.0b013e318271f7ff
PMID: 23077007 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus