Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia.
Taniwaki
Y
Y
Hara
H
H
Doh-Ura
K
K
Murakami
I
I
Tashiro
H
H
Yamasaki
T
T
Shigeto
H
H
Arakawa
K
K
Araki
E
E
Yamada
T
T
Iwaki
T
T
Kira
J
J
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*
D000682:Amyloid; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors