Pontine atrophy in spinocerebellar ataxia type 6.
To investigate the clinical range of spinocerebellar ataxia type 6 (SCA6), we screened CAG repeat expansion in the voltage-dependent alpha 1A calcium channel gene (CACNL1A4) in 71 ataxic patients in 60 families; 54 patients in 43 families with hereditary ataxia and 17 sporadic patients. Thirteen patients with SCA6 were detected to have elongated CAG in CACNL1A4. Of these, 7 patients had been diagnosed as having hereditary cerebellar cortical atrophy, and 6 patients had been found to have sporadic occurrence. One patient showed distinct pontine atrophy with prominent horizontal or oblique gaze nystagmus which is an unusual feature in sporadic olivopontocerebellar atrophy. For the efficient screening of SCA6, we would propose testing CAG repeat expansion in CACNL1A4, in patients with one of two markers: (1) horizontal or oblique gaze nystagmus without other eye movement disorders, (2) pure cerebellar atrophy, even if occurrence is sporadic. We should note that the pontine atrophy could also be caused by CAG repeat expansion in CACNL1A4.
Sugawara
M
M
The First Department of Internal Medicine, Akita University School of Medicine, Akita, Japan. masashir@med.akita-u.ac.jp
Toyoshima
I
I
Wada
C
C
Kato
K
K
Ishikawa
K
K
Hirota
K
K
Ishiguro
H
H
Kagaya
H
H
Hirata
Y
Y
Imota
T
T
Ogasawara
M
M
Masamune
O
O
D000328:Adult; D000368:Aged; D001284:Atrophy / Q000473:pathology; D015220:Calcium Channels / Q000235:genetics*; D004587:Electrophoresis, Agar Gel; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011149:Pons / Q000473:pathology*; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type