1.A Case of Spinocerebellar Ataxia Type 2.
Sanghoon HONG ; Geun Ho LEE ; Dae Woong YANG ; Wookjang LEE ; Bakee LEE ; Jong Won KIM
Journal of the Korean Child Neurology Society 2000;8(2):324-328
This is a case of a boy with autosomal dominant cerebellar ataxia (SCA type 2), which was confirmed by DNA analysis. A 9-year-old boy had been suffering from tremor in both arm and leg for 5 years. After traffic accident, a year ago, the symtoms were more aggravated, and he visted our hospital. The boy showed slow saccades, decreased DTR, ataxic gait and limb ataxia. We analyzed DNA repetition, which revealed positive for the SCA2 expanded repeat.
Accidents, Traffic
;
Arm
;
Ataxia
;
Cerebellar Ataxia
;
Child
;
DNA
;
Gait
;
Humans
;
Leg
;
Male
;
Saccades
;
Spinocerebellar Ataxias*
;
Tremor
;
Trinucleotide Repeats