Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats.

Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats. Research Abstract Details 

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Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats. Abstract Text:

D Z Loesch,L Litewka,A Churchyard,E Gould,F Tassone,M Cook,

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly discovered late-onset neurodegenerative disorder caused by a premutation in the FMR1 X-linked gene. We present examples of a discrepancy between obvious brain changes observed on MRI, and minimal clinical neurological manifestations in three older carriers of this premutation. This discrepancy occurred in three of nine carriers ascertained in an unbiased manner. If the systematic follow-up studies of adult carriers confirm this trend, this will have an impact on early diagnosis of neurological involvement and possible prevention. If MRI changes precede clinical manifestation of FXTAS this may explain the low detection rate of fragile X carriers among patients with neurological syndromes associated with tremor/ataxia.

Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats. Publishing Authors By Initials

DZ Loesch,L Litewka,A Churchyard,E Gould,F Tassone,M Cook,

For similar tremor research abstracts see: tremor research

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Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Journal of clinical neuroscience : official journa

VOLUME: 14

Page Numbers: 245-8

Journal Abbreviation:

ISSN: 0967-5868

DAY: 27

MONTH: 12

YEAR: 2006

Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 9433352

Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats. Keywords Mesh Terms:

KEYWORDS: Tremor

MESH TERMS: pathology

Chemical & Substance for Abstract: Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats. Information

Substance Name: Fragile X Mental Retardation Protein

Registry Number: 139135-51-6

Grant and Affiliation Information for Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats.

AFFILIATION: School of Psychological Science, La Trobe University, Bundoora, Melbourne, Victoria 3086, Australia. d.loesch@latrobe.edu.au

Country: Scotland

AGENCY: United States NICHD

GRANT: HD36071

ACRONYM: HD

MEDLINETA: J Clin Neurosci

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