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.
Yoshida
Kunihiro
K
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Asahi, Matsumoto, Japan. kyoshida@shinshu-u.ac.jp
Shimizu
Yusaku
Y
Morita
Hiroshi
H
Okano
Tomomi
T
Sakai
Haruya
H
Ohata
Takako
T
Matsumoto
Naomichi
N
Nakamura
Katsuya
K
Tazawa
Ko-ichi
K
Ohara
Shinji
S
Tabata
Kenichi
K
Inoue
Atsushi
A
Sato
Shunichi
S
Shimojima
Yasuhiro
Y
Hattori
Takeshi
T
Ushiyama
Masao
M
Ikeda
Shu-ichi
S
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