경부근긴장이상증으로 발현한 6형 척수소뇌실조증 = Spinocerebellar Ataxia Type 6 Presenting With Cervical Dystonia

다국어 초록 (Multilingual Abstract)

A 29-year-old man presented with involuntary head turning to the right. His family history showed that his mother and two maternal uncles had dysarthria and gait disturbance. Other than mild swaying on tandem gait, his neurologic examination was normal. Brain magnetic resonance imaging demonstrated cerebellar atrophy. Molecular analysis revealed an expanded SCA6 (spinocerebellar ataxia 6) allele of 23 CAG repeats. We therefore report a case of SCA6presenting with disabling cervical dystonia.

참고문헌 (Reference)

1 Muzaimi MB, "Task specific focal dystonia: a presentation of spinocerebellar ataxia type 6" 74 : 1444-1445, 2003

2 Schmitz-Hubsch T, "Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms" 72 : 982-989, 2008

3 Ikeuchi T, "Spinocerebellar ataxia type 6: CAG repeat expansion in alpha-1Avoltage-dependent calcium channel gene and clinical variations in Japanese population" 42 : 879-884, 1997

4 Gierga K, "Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites" 35 : 515-527, 2009

5 Sato N, "Spinocerebellar ataxia type 31 is associated with Inserted penta-nucleotide repeats containing (TGGAA)n" 85 : 544-577, 2009

6 Lee WY, "Frequency analysis and clinical characterization of spinocerebellar ataxia types 1,3, 6, and 7 in Korean patients" 60 : 858-863, 2003

7 Schols L, "Extrapyramidal motor signs in degenerative ataxias" 57 : 1495-1500, 2000

8 Sethi D, "Dystonia in spinocerebellar ataxia type 6" 17 : 150-153, 2002

9 Stevanin G, "Clinical and molecular features of spinocerebellar ataxia type 6" 49 : 1243-1246, 1997

10 Schols L, "Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis" 3 : 291-304, 2004