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Dementia & Neuropsychologia

Print version ISSN 1980-5764

Dement. neuropsychol. vol.4 no.1 São Paulo Jan./Mar. 2010

http://dx.doi.org/10.1590/S1980-57642010DN40100014 

Case Reports

Dementia in Fragile X-associated Tremor/Ataxia Syndrome

Demência na síndrome de tremor-ataxia associada ao X-frágil

Ricardo Nitrini1 

Márcia Rúbia R. Gonçalves1 

Leonardo P. Capelli2 

Egberto Reis Barbosa1 

Cláudia Sellitto Porto3 

Edson Amaro4 

Paulo Alberto Otto5 

Angela M. Vianna-Morgante6 

1MD, Departments of Neurology, School of Medicine, University of São Paulo, São Paulo SP, Brazil.

2MSc, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo SP, Brazil.

3PhD, Departments of Neurology, School of Medicine, University of São Paulo, São Paulo SP, Brazil.

4MD, Departments of Neurology and Radiology, School of Medicine, University of São Paulo, São Paulo SP, Brazil.

5MD, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo SP, Brazil.

6PhD, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo SP, Brazil.


Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cause of movement disorders and cognitive decline which has probably been underdiagnosed, especially if its prevalence proves similar to those of progressive supranuclear palsy and amyotrophic lateral sclerosis. We report a case of a 74-year-old man who presented with action tremor, gait ataxia and forgetfulness. There was a family history of tremor and dementia, and one of the patient's grandsons was mentally deficient. Neuropsychological evaluation disclosed a frontal network syndrome. MRI showed hyperintensity of both middle cerebellar peduncles, a major diagnostic hallmark of FXTAS. Genetic testing revealed premutation of the FMR1 gene with an expanded (CGG)90 repeat. The diagnosis of FXTAS is important for genetic counseling because the daughters of the affected individuals are at high risk of having offspring with fragile X syndrome. Tremors and cognitive decline should raise the diagnostic hypothesis of FXTAS, which MRI may subsequently reinforce, while the detection of the FMR1 premutation can confirm the condition.

Key words: fragile X; dementia; tremor; essencial tremor; ataxia; premutation

Resumo

A síndrome de tremor-ataxia associada ao X-frágil (FXTAS) é uma causa de distúrbios do movimento e de declínio cognitivo que provavelmente tem sido subdiagnosticada, especialmente se a sua prevalência for realmente similar às da paralisia supranuclear progressiva e esclerose lateral amiotrófica. Relatamos um caso de um homem de 74 anos que se apresentou com tremor de ação, ataxia de marcha e esquecimento. Havia história familiar de tremor e de demência e um de seus netos era mentalmente deficiente. A avaliação neuropsicológica demonstrou uma síndrome frontal. A ressonância magnética (RM) revelou hiperintensidade de ambos os pedúnculos cerebelares médios, um critério maior para o diagnóstico de FXTAS. Os testes genéticos confirmaram a presença da pré-mutação do gene FMR1, com uma repetição (CGG)90. O diagnóstico de FXTAS é importante para o aconselhamento genético porque as filhas dos indivíduos afetados tem alto risco de ter uma criança com síndrome do X-frágil. A presença de tremores e declínio cognitivo deve levantar a hipótese diagnóstica de FXTAS, que poderá ser reforçada pela RM e confirmada pela presença da pré-mutação do gene FMR1.

Palavras-chave: X-frágil; demência; tremor; tremor essencial; ataxia; pré-mutação

Texto completo disponível apenas em PDF.

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Received: October 23, 2009; Accepted: December 17, 2009

Ricardo Nitrini - Rua Itapeva 378 / cj. 93 - 01331-000 São Paulo SP - Brazil. E-mail: rnitrini@uol.com.br

Disclosure: The authors report no conflicts of interest

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