TY  - GEN
AU  - Ogawa,T
AU  - Takiyama,Y
AU  - Sakoe,K
AU  - Mori,K
AU  - Namekawa,M
AU  - Shimazaki,H
AU  - Nakano,I
AU  - Nishizawa,M
TI  - Identification of a SACS gene missense mutation in ARSACS
SN  - 1526-632X
PY  - 2004///0304
KW  - Adult
KW  - Ataxia
KW  - complications
KW  - Cerebellum
KW  - pathology
KW  - DNA Mutational Analysis
KW  - Dysarthria
KW  - diagnosis
KW  - Female
KW  - Gait Disorders, Neurologic
KW  - Genes, Recessive
KW  - Heat-Shock Proteins
KW  - genetics
KW  - Homozygote
KW  - Humans
KW  - Japan
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Muscle Spasticity
KW  - Mutation, Missense
KW  - Nerve Fibers, Myelinated
KW  - Neural Conduction
KW  - Neuropsychological Tests
KW  - Retina
KW  - Siblings
KW  - Sural Nerve
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1212/01.wnl.0000099371.14478.73
ER  -