Case of spinocerebellar ataxia type 1 showing high intensity lesions in the frontal white matter on T2-weighted magnetic resonance images.
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-weighted images in the white matter of the frontal lobes. The patient was a 60-year-old Japanese man who complained of gait instability and speech difficulties. He was diagnosed as having spinocerebellar ataxia at the age of 46. A CAG repeat number of the patient was 48/26. Brain MRI showed marked atrophy of the cerebellum and brain stem. The high-signal intensity lesions on T2-weighted MRI in the white matter of the frontal lobes were evident in the periventricular regions. Such MRI abnormalities have not been described in SCA1 previously.
Second Department of Internal Medicine, Nihon Medical University, Ooyaguchi-kamimachi 30-1, Itabashi-ku, Tokyo 173-8610 Japan. tnakayam@med.nihon-u.ac.jp
T
T
Nakayama
K
K
Nakayama
Y
Y
Takahashi
K
K
Ohkubo
H
H
Tobe
M
M
Soma
Y
Y
Ozawa
K
K
Kanmatsuse
M
M
Nakamura
T
T
Hironaga
Y
Y
Makizumi
H
H
Nagura
D001483:Base Sequence; D017931:DNA Primers; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology
D017931:DNA Primers