Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan.
16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is a recently defined subtype of ADCA identified by a disease-specific C/T substitution in the 5' untranslated region of the puratrophin-1 gene. In Nagano, the central mountainous district of the main island of Japan, 16q-ADCA and spinocerebellar ataxia type 6 (SCA6) are the most and second most prevalent subtypes of ADCA, respectively. Both subtypes are classified into Harding's ADCA III, but little attention has been given to the differences in the severity and progression rate of cerebellar ataxia between 16q-ADCA and SCA6. We investigated the clinical severity and progression rate of cerebellar ataxia of 16q-ADCA patients using international cooperative ataxia rating scale and scale for the assessment and rating of ataxia and compared them with those of SCA6 patients. The age at onset was much higher in 16q-ADCA patients (60.1 +/- 9.8 years, n = 66) than in SCA6 patients (41.1 +/- 8.7 years, n = 35). Clinical features of 16q-ADCA were basically consistent with pure cerebellar ataxia, as well as in SCA6, but gaze-evoked nystagmus was observed less frequently in 16q-ADCA patients than in SCA6 patients. When compared at almost the same disease duration after onset, the severity of cerebellar ataxia was a little higher, and the progression rate seemed more rapid in 16q-ADCA patients than in SCA6 patients, but the differences were not significant.
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Asahi, Matsumoto, Japan. kyoshida@shinshu-u.ac.jp
Kunihiro
K
Yoshida
Yusaku
Y
Shimizu
Hiroshi
H
Morita
Tomomi
T
Okano
Haruya
H
Sakai
Takako
T
Ohata
Naomichi
N
Matsumoto
Katsuya
K
Nakamura
Ko-ichi
K
Tazawa
Shinji
S
Ohara
Kenichi
K
Tabata
Atsushi
A
Inoue
Shunichi
S
Sato
Yasuhiro
Y
Shimojima
Takeshi
T
Hattori
Masao
M
Ushiyama
Shu-ichi
S
Ikeda
D020121:5' Untranslated Regions / Q000235:genetics; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002524:Cerebellar Ataxia / Q000145:classification / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D002885:Chromosomes, Human, Pair 16; D003072:Cognition Disorders / Q000235:genetics; D018450:Disease Progression; D005190:Family; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D007407:Interviews as Topic; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D001405:Reflex, Babinski; D012720:Severity of Illness Index; D013049:Spectrin / Q000235:genetics*; D055815:Young Adult
D020121:5' Untranslated Regions; D020662:Guanine Nucleotide Exchange Factors; C503982:PLEKHG4 protein, human; D013049:Spectrin