The first case report of fragile X-associated tremor
- Author:
Gwanhee Ehm
;
Hui-Jun Yang
;
Han-Joon Kim
;
Beom Seok Jeon
- Publication Type:Journal Article
- From:Neurology Asia
2014;19(1):99-103
- CountryMalaysia
- Language:English
-
Abstract:
We present the first case report of fragile X-associated tremor ataxia syndrome (FXTAS) in the
Republic of Korea. A 75-year-old male developed progressive gait ataxia, parkinsonism, and a mood
disorder. Magnetic resonance imaging revealed T2 high signal intensity within the middle cerebellar
peduncles. Analysis of the fragile X mental retardation 1 gene revealed a CGG trinucleotide repeat
number of 136. FXTAS should be considered when a patient has atypical parkinsonism, cerebellar
ataxia, and specific MRI abnormalities.
- Full text:P020150624463164468872.pdf
