title: Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).
abstract: We report a Japanese family with spastic paraplegia 7 (SPG7) that carries a deleterious homozygous p.R398X mutation in SPG7. The patients showed a predominant cerebellar ataxia phenotype. SPG7 is quite rare in Japan, but it should be included in the differential diagnosis for hereditary spastic-ataxic syndromes, even if the cerebellar signs are much more pronounced than the pyramidal tract signs.
authors.affiliation: Department of Neurology, Nagano Red Cross Hospital , Nagano, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Yahikozawa
authors.affiliation: Division of Neurogenetics, Department of Brain Disease Research and Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine , Matsumoto, Japan.
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Yoshida
authors.affiliation: Department of Neurology, Nagano Red Cross Hospital , Nagano, Japan.
authors.forename: Shunichi
authors.initials: S
authors.lastname: Sato
authors.affiliation: Department of Neurology, Nagano Red Cross Hospital , Nagano, Japan.
authors.forename: Norinao
authors.initials: N
authors.lastname: Hanyu
authors.affiliation: Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan; Department of Neurology and Stroke Medicine, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Doi
authors.affiliation: Department of Neurology and Stroke Medicine, Graduate School of Medicine, Yokohama City University , Yokohama, Japan.
authors.forename: Satoko
authors.initials: S
authors.lastname: Miyatake
authors.affiliation: Department of Neurology and Stroke Medicine, Graduate School of Medicine, Yokohama City University , Yokohama, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto