title: Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia.
authors.forename: Y
authors.initials: Y
authors.lastname: Taniwaki
authors.forename: H
authors.initials: H
authors.lastname: Hara
authors.forename: K
authors.initials: K
authors.lastname: Doh-Ura
authors.forename: I
authors.initials: I
authors.lastname: Murakami
authors.forename: H
authors.initials: H
authors.lastname: Tashiro
authors.forename: T
authors.initials: T
authors.lastname: Yamasaki
authors.forename: H
authors.initials: H
authors.lastname: Shigeto
authors.forename: K
authors.initials: K
authors.lastname: Arakawa
authors.forename: E
authors.initials: E
authors.lastname: Araki
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: T
authors.initials: T
authors.lastname: Iwaki
authors.forename: J
authors.initials: J
authors.lastname: Kira
mesh_terms: D000682:Amyloid / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000175:diagnosis*; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors / Q000235:genetics*; D007319:Sleep Initiation and Maintenance Disorders / Q000175:diagnosis*
chemical_list: D000682:Amyloid; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors