Ogawa, T
Identification of a SACS gene missense mutation in ARSACS. [electronic resource]
- Neurology Jan 2004
- 107-9 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1526-632X
10.1212/01.wnl.0000099371.14478.73 doi
Adult
Ataxia--complications
Cerebellum--pathology
DNA Mutational Analysis
Dysarthria--diagnosis
Female
Gait Disorders, Neurologic--diagnosis
Genes, Recessive
Heat-Shock Proteins--genetics
Homozygote
Humans
Japan
Magnetic Resonance Imaging
Male
Muscle Spasticity--complications
Mutation, Missense
Nerve Fibers, Myelinated--pathology
Neural Conduction
Neuropsychological Tests
Retina--pathology
Siblings
Sural Nerve--pathology