Case of spinocerebellar ataxia type 1 showing high intensity lesions in the frontal white matter on T2-weighted magnetic resonance images.Tomohiro Nakayama, Kiyokazu Nakayama, Yoshiko Takahashi, Kimie Ohkubo, Hideko Tobe, Masayoshi Soma, Yukio Ozawa, Katsuo Kanmatsuse, Makoto Nakamura, Takashi Hironaga, Yutaka Makizumi, Hiroshi Nagura
Med Sci Monit 2001; 7(2): CS299-303 :: ID: 421145
We report a case of genetically confirmed spinocerebellar ataxia type 1(SCA1) in which magnetic resonance imaging (MRI) demonstrated a high signal intensity on T2-weightedimages in the white matter of the frontal lobes. The patient was a 60-year-old Japanese man who complainedof gait instability and speech difficulties. He was diagnosed as having spinocerebellar ataxia at theage of 46. A CAG repeat number of the patient was 48/26. Brain MRI showed marked atrophy of the cerebellumand brain stem. The high-signal intensity lesions on T2-weighted MRI in the white matter of the frontallobes were evident in the periventricular regions. Such MRI abnormalities have not been described inSCA1 previously.
Keywords: SCA1, MRI, trinucleotide expansion, CAG repeat, autosomal dominant
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