@article{oai:soar-ir.repo.nii.ac.jp:00019344,
 author = {Doi, Hiroshi and Ushiyama, Masao and Baba, Takashi and Tani, Katsuko and Shiina, Masaaki and Ogata, Kazuhiro and Miyatake, Satoko and Fukuda-Yuzawa, Yoko and Tsuji, Shoji and Nakashima, Mitsuko and Tsurusaki, Yoshinori and Miyake, Noriko and Saitsu, Hirotomo and Ikeda, Shu-ichi and Tanaka, Fumiaki and Matsumoto, Naomichi and Yoshida, Kunihiro},
 journal = {SCIENTIFIC REPORTS},
 month = {Nov},
 note = {Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias (ARHSPs) are clinically and genetically heterogeneous neurological disorders. Herein we describe Japanese siblings with a midlife-onset, slowly progressive type of cerebellar ataxia and spastic paraplegia, without intellectual disability. Using whole exome sequencing, we identified a homozygous missense mutation in DDHD2, whose mutations were recently identified as the cause of early-onset ARHSP with intellectual disability. Brain MRI of the patient showed a thin corpus callosum. Cerebral proton magnetic resonance spectroscopy revealed an abnormal lipid peak in the basal ganglia, which has been reported as the hallmark of DDHD2-related ARHSP (SPG 54). The mutation caused a marked reduction of phospholipase A(1) activity, supporting that this mutation is the cause of SPG54. Our cases indicate that the possibility of SPG54 should also be considered when patients show a combination of adult-onset spastic ataxia and a thin corpus callosum. Magnetic resonance spectroscopy may be helpful in the differential diagnosis of patients with spastic ataxia phenotype., Article, SCIENTIFIC REPORTS. 4:7132 (2014)},
 title = {Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation},
 volume = {4},
 year = {2014}
}