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The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group

Kamm, C (author)
Healy, DG (author)
Quinn, NP (author)
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Wullner, U (author)
Moller, JC (author)
Schols, L (author)
Geser, F (author)
Burk, K (author)
Borglum, AD (author)
Pellecchia, MT (author)
Tolosa, E (author)
del Sorbo, F (author)
Nilsson, Christer (author)
Lund University,Lunds universitet,Psykiatri, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Psychiatry (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
Bandmann, O (author)
Sharma, M (author)
Mayer, P (author)
Gasteiger, M (author)
Haworth, A (author)
Ozawa, T (author)
Lees, AJ (author)
Short, J (author)
Giunti, P (author)
Holinski-Feder, E (author)
Illig, T (author)
Wichmann, HE (author)
Wenning, GK (author)
Wood, NW (author)
Gasser, T (author)
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 (creator_code:org_t)
2005-06-09
2005
English.
In: Brain. - : Oxford University Press (OUP). - 1460-2156 .- 0006-8950. ; 128:8, s. 1855-1860
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • The recent identification of fragile X-associated tremor ataxia syndrome (FXTAS) associated with premutations in the FMR1 gene and the possibility of clinical overlap with multiple system atrophy (MSA) has raised important questions, such as whether genetic testing for FXTAS should be performed routinely in MSA and whether positive cases might affect the specificity of current MSA diagnostic criteria. We genotyped 507 patients with clinically diagnosed or pathologically proven MSA for FMR1 repeat length. Among the 426 clinically diagnosed cases, we identified four patients carrying FMR1 premutations (0.94%). Within the subgroup of patients with probable MSA-C, three of 76 patients (3.95%) carried premutations. We identified no premutation carriers among 81 patients with pathologically proven MSA and only one carrier among 622 controls (0.16%). Our results suggest that, with proper application of current diagnostic criteria, FXTAS is very unlikely to be confused with MSA. However, slowly progressive disease or predominant tremor are useful red flags and should prompt the consideration of FXTAS. On the basis of our data, the EMSA Study Group does not recommend routine FMR1 genotyping in typical MSA patients.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Neurologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Neurology (hsv//eng)

Keyword

fragile X
FXTAS
premutation
FMR1
multiple system atrophy

Publication and Content Type

art (subject category)
ref (subject category)

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