Autosomal dominant cerebellar ataxia (ADCA) was classified into Type I, Type II, and Type III, based on the clinical phenotypes by Harding. ADCA Type I presents with both cerebellar and noncerebellar signs and includes SCA1–SCA4, SCA8, SCA10, SCA12-SCA23, SCA25, SCA27, SCA28, and SCA32–SCA36. ADCA Type II consists of syndromes in association with pigmentary retinopathies and includes SCA7. ADCA...

The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative diseases. In 2010, four missense mutations in the prodynorphin (PDYN) gene were found in two families and two sporadic cases of SCA type 23 (SCA23) from the Netherlands. In addition, one missense mutation in PDYN was also found in one sporadic SCA23 case in America in 2012. To date, ther...

The diagnosis and treatment of cerebellar atrophy remain challenging owing to its nonspecific symptoms laboratory indicators. Three patients with spinocerebellar ataxia type 8 caused by ATXN8OS were found among the 16 people in studied family. clinical manifestations included progressive spastic paraplegia lower extremities, mild ataxia, cognitive impairment, atrophy. After administering antisp...

Purpose: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease for which more than 30 subtypes have been identified. However, 5 subtypes, SCA1, SCA2, SCA3, SCA6, and SCA7, account for more than 60% of cases. In this study, we report the distribution of these 5 subtypes in Korean patients. Materials and Methods: Six hundred and thirty-eight unrelated patients with a presumptive dia...

We report a case of unilateral tonic pupil in spinocerebellar ataxia without brainstem atrophy in a 42year-old man. On neurological examination, he showed cerebellar symptoms and unilateral tonic pupil. Deep tendon reflexes were normal except for brisk patellar tendon reflexes. Brain MRI demonstrated cerebellar atrophy only. There was neither orthostatic hypotension nor bowel and bladder failur...

BACKGROUND The spinocerebellar ataxias (SCAs) are clinically heterogeneous disorders caused by triplet repeat expansions in the sequence of specific disease genes. Spinocerebellar ataxia type 8 (SCA8), originally described in a family characterized by pure cerebellar ataxia with slow disease progression, presents with expansion of combined CTA/CTG repeats. OBJECTIVE To perform SCA8 repeat exp...

The neurodegenerative disease Spinocerebellar ataxia type 1 (SCA1) is a polyglutamine expansion disorder characterized by the death of Purkinje neurons in the brain. In this issue, Serra et al. (2006) implicate the impaired function of the orphan nuclear receptor RORalpha in SCA1 pathogenesis. Their intriguing results suggest that derailing a transcription program during embryonic development m...