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.
Nakayama
T
T
Second Department of Internal Medicine, Nihon Medical University, Ooyaguchi-kamimachi 30-1, Itabashi-ku, Tokyo 173-8610 Japan. tnakayam@med.nihon-u.ac.jp
Nakayama
K
K
Takahashi
Y
Y
Ohkubo
K
K
Tobe
H
H
Soma
M
M
Ozawa
Y
Y
Kanmatsuse
K
K
Nakamura
M
M
Hironaga
T
T
Makizumi
Y
Y
Nagura
H
H
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