title: Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6.
abstract: We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms. The proband presented with periodic alternating nystagmus (PAN), and her 2 brothers had rebound nystagmus and gaze-evoked nystagmus. They carried the identical mutation (the number of expanded CAG repeat, 24) in the CACNA1A gene. The intrafamilial variability of oculomotor symptoms may be ascribed to factors other than CAG repeat expansion size in SCA6.
authors.affiliation: Third Department of Medicine, Shinshu University School of Medicine, Asahi, Matsumoto, Japan. takahhh@hsp.md.shinsu-u.ac.jp
authors.forename: Takao
authors.initials: T
authors.lastname: Hashimoto
authors.forename: Osamu
authors.initials: O
authors.lastname: Sasaki
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Yoshida
authors.forename: Yo-ichi
authors.initials: Y
authors.lastname: Takei
authors.forename: Shu-ichi
authors.initials: S
authors.lastname: Ikeda
mesh_terms: D015220:Calcium Channels / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004585:Electrooculography / Q000379:methods; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009759:Nystagmus, Pathologic / Q000209:etiology* / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000150:complications* / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type