Sacsin-related ataxia with neither retinal hypermyelination nor spasticity.
Hara
Kenju
K
Shimbo
Junsuke
J
Nozaki
Hiroaki
H
Kikugawa
Koki
K
Onodera
Osamu
O
Nishizawa
Masatoyo
M
D001259:Ataxia / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006360:Heat-Shock Proteins; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000209:etiology*; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D012160:Retina / Q000473:pathology*
D006360:Heat-Shock Proteins; C404403:SACS protein, human