title: [A case of spinocerebellar ataxia type 2 presenting with lid retraction with prominent eyes and pyramidal signs].
abstract: We herein report a case of a 45-year-old man who was diagnosed with spinocerebellar ataxia type 2 (SCA 2) by genomic testing and whose grandmother, father, and uncle were also affected by the same disease. The patient had noted difficulty in walking and dysarthria since the age of 43. Neurological examination revealed lid retraction with prominent eyes, cerebellar ataxia and pyramidal signs including spasticity, ankle clonus, and hyperreflexia with pathological reflexes. MRI showed atrophy of the cerebellum, brain stem, and spinal cord. This case report suggests that the lid retraction with prominent eyes and pyramidal signs are sometimes major features in SCA2.
authors.affiliation: Department of Neurology, Kochi Municipal Central Hospital, 2-7-33 Sakurai-cho, Kochi 780-0821, Japan.
authors.forename: Ichiro
authors.initials: I
authors.lastname: Kohira
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ujike
authors.forename: Yotaro
authors.initials: Y
authors.lastname: Ninomiya
mesh_terms: D005143:Eyelids / Q000503:physiopathology; D019066:Facies; D006801:Humans; D008297:Male; D008875:Middle Aged; D020754:Spinocerebellar Ataxias / Q000503:physiopathology*