title: Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG.
abstract: Two cases of spinocerebellar ataxia type 14 (SCA14) with a G128D mutation in the protein kinase C gamma gene (PRKCG) without a definite family history have been reported previously. Here, we describe the first familial cases of SCA14 with a G128D mutation in PRKCG. Among three family members, the chief complaints varied and included ataxic gait, cervical dystonia, and positional vertigo. Moreover, retinal degeneration and facial muscle weakness were observed, although these are not expected to be present in SCA14. Cerebral blood flow evaluation using single photon emission computed tomography (SPECT) also differed among family members. It is possible that patients with the G128D mutation suffering from SCA14 may sometimes be classified as unaffected due to the varying clinical signs among family members.
authors.affiliation: Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka 830-0011, Japan. shiroh46@med.kurume-u.ac.jp
authors.forename: Shiroh
authors.initials: S
authors.lastname: Miura
authors.forename: Hiroko
authors.initials: H
authors.lastname: Nakagawara
authors.forename: Hayato
authors.initials: H
authors.lastname: Kaida
authors.forename: Minoru
authors.initials: M
authors.lastname: Sugita
authors.forename: Kazuhito
authors.initials: K
authors.lastname: Noda
authors.forename: Kyoko
authors.initials: K
authors.lastname: Motomura
authors.forename: Yasumasa
authors.initials: Y
authors.lastname: Ohyagi
authors.forename: Mitsuyoshi
authors.initials: M
authors.lastname: Ayabe
authors.forename: Hisamichi
authors.initials: H
authors.lastname: Aizawa
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Ishibashi
authors.forename: Takayuki
authors.initials: T
authors.lastname: Taniwaki
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001921:Brain / Q000098:blood supply; D002560:Cerebrovascular Circulation; D003937:Diagnosis, Differential; D005260:Female; D020234:Gait Ataxia / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011493:Protein Kinase C / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D015899:Tomography, Emission-Computed, Single-Photon / Q000379:methods; D014717:Vertigo / Q000209:etiology / Q000503:physiopathology; D055815:Young Adult
chemical_list: C087857:protein kinase C gamma; D011493:Protein Kinase C