title: A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
authors.affiliation: 1Department of Neurology and Parkinson's Disease Centre,Korea University Guro Hospital,Korea University College of Medicine,Seoul,Korea.
authors.forename: Kyum-Yil
authors.initials: KY
authors.lastname: Kwon
authors.affiliation: 2Department of Ophthalmology,Korea University Guro Hospital,Korea University College of Medicine,Seoul,Korea.
authors.forename: Kuhl
authors.initials: K
authors.lastname: Huh
authors.affiliation: 3Department of Pediatrics,Korea University Guro Hospital,Korea University College of Medicine,Seoul,Korea.
authors.forename: Baik-Lin
authors.initials: BL
authors.lastname: Eun
authors.affiliation: 4Department of Pediatrics,Asan Medical Center Children's Hospital,University of Ulsan College of Medicine,Seoul,Korea.
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
authors.affiliation: 5Departments of Human Genetics,Radboud University Nijmegen Medical Centre,Nijmegen,The Netherlands.
authors.forename: Eric-Jan
authors.initials: EJ
authors.lastname: Kamsteeg
authors.affiliation: 5Departments of Human Genetics,Radboud University Nijmegen Medical Centre,Nijmegen,The Netherlands.
authors.forename: Hans
authors.initials: H
authors.lastname: Scheffer
authors.affiliation: 1Department of Neurology and Parkinson's Disease Centre,Korea University Guro Hospital,Korea University College of Medicine,Seoul,Korea.
authors.forename: Seong-Beom
authors.initials: SB
authors.lastname: Koh
mesh_terms: D000293:Adolescent; D002531:Cerebellum / Q000473:pathology; D005260:Female; D005820:Genetic Testing; D006360:Heat-Shock Proteins / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D009128:Muscle Spasticity / Q000235:genetics* / Q000473:pathology*; D009460:Neurologic Examination; D011149:Pons / Q000473:pathology; D001405:Reflex, Babinski; D056910:Republic of Korea; D020754:Spinocerebellar Ataxias / Q000151:congenital* / Q000235:genetics / Q000473:pathology
chemical_list: D006360:Heat-Shock Proteins; C404403:SACS protein, human
keywords: Genetics - clinical; Movement disorders