[A sporadic case of spinocerebellar ataxia 6 (SCA 6) with large CAG expansion of the CACNL1A4 gene].
We reported a 73-year-old woman of spinocerebellar ataxia 6 (SCA 6). There was no family history of neurological diseases. She demonstrated cerebellar ataxia and scanning speech at the age of 48. These symptoms gradually developed. Brain MRI showed severe cerebellar atrophy and no abnormality in the brain stem. Her neurological symptoms and MRI findings were compatible with cerebellocortical atrophy (CCA). Analysis of the CACNL1A4 gene on chromosome 19p 13 demonstrated she had an expanded allele with 27 CAG repeats. Therefore, she was diagnosed with SCA 6. In spite of her large CAG expansion, there was no family history of SCA 6 in this case. SCA 6 needs to be ruled out in cases of clinical CCA.
Izumi
Y
Y
Department of Neurology, Sumitomo Hospital, Osaka, Japan.
Sawada
H
H
Matsuyama
Z
Z
Kawakami
H
H
Udaka
F
F
Nakamura
S
S
Kameyama
M
M
D000368:Aged; D001921:Brain / Q000473:pathology; D015220:Calcium Channels / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000473:pathology; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type