CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification.
To evaluate the clinical characteristics of Machado-Joseph disease (MJD) with reference to CAG repeat length and disease duration, we analyzed neurologic findings in 108 patients from 84 families. The majority of MJD patients presented with an ataxic gait as the initial symptom. Dysarthria and nystagmus were observed from an early stage. Bulging eyes, muscle atrophy and bradykinesia developed later. Patients with a shorter CAG repeat length or later onset had more frequent involvement of proprioceptive sensory deficit. Incidence of abnormal reflexes, tones, and proprioceptive sensation was not associated with disease duration, but with CAG repeat length. Based on these results, we propose a new clinical classification: type A (juvenile type), with hyperreflexia and dystonia, but without a proprioceptive sensory deficit; type C (adult type), with hyporeflexia and a proprioceptive sensory deficit, but without dystonia; and type B (intermediate type), the remaining patients with a mixed presentation.
Maruyama
H
H
Third Department of Internal Medicine, Hiroshima University School of Medicine, Kasumi, Japan.
Kawakami
H
H
Kohriyama
T
T
Sakai
T
T
Doyu
M
M
Sobue
G
G
Seto
M
M
Tsujihata
M
M
Oh-i
T
T
Nishio
T
T
Sunohara
N
N
Takahashi
R
R
Ohtake
T
T
Hayashi
M
M
Nishimura
M
M
Saida
T
T
Abe
K
K
Itoyama
Y
Y
Matsumoto
H
H
Nakamura
S
S
D000328:Adult; D017668:Age of Onset; D003680:Deglutition Disorders; D004401:Dysarthria; D005260:Female; D006801:Humans; D007564:Japan; D017827:Machado-Joseph Disease / Q000145:classification* / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D009759:Nystagmus, Pathologic; D011434:Proprioception; D012018:Reflex; D012727:Sex Characteristics; D013997:Time Factors; D018911:Trinucleotide Repeats