Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)

Hiroyuki Yahikozawa; Kunihiro Yoshida; Shunichi Sato; Norinao Hanyu; Hiroshi Doi; Satoko Miyatake; Naomichi Matsumoto

doi:10.1038/hgv.2015.12

Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)

Hum Genome Var. 2015 Mar 26:2:15012. doi: 10.1038/hgv.2015.12. eCollection 2015.

Authors

Hiroyuki Yahikozawa¹, Kunihiro Yoshida², Shunichi Sato¹, Norinao Hanyu¹, Hiroshi Doi³, Satoko Miyatake⁴, Naomichi Matsumoto⁴

Affiliations

¹ Department of Neurology, Nagano Red Cross Hospital , Nagano, Japan.
² Division of Neurogenetics, Department of Brain Disease Research and Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine , Matsumoto, Japan.
³ 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.
⁴ Department of Neurology and Stroke Medicine, Graduate School of Medicine, Yokohama City University , Yokohama, Japan.

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.