TY - JOUR
T1 - CAG repeat length and disease duration in Machado-Joseph disease
T2 - A new clinical classification
AU - Maruyama, H.
AU - Kawakami, H.
AU - Kohriyama, T.
AU - Sakai, T.
AU - Doyu, M.
AU - Sobue, G.
AU - Seto, M.
AU - Tsujihata, M.
AU - Oh-i, T.
AU - Nishio, T.
AU - Sunohara, N.
AU - Takahashi, R.
AU - Ohtake, T.
AU - Hayashi, M.
AU - Nishimura, M.
AU - Saida, T.
AU - Abe, K.
AU - Itoyama, Y.
AU - Matsumoto, H.
AU - Nakamura, S.
N1 - Funding Information:
This work was supported by Grants-in-Aid from the Ministry of Education, Science, and Culture and from the Ministry of Health and Welfare of Japan. We wish to thank the Research Center for Molecular Medicine, Hiroshima University School of Medicine, for the use of their facilities.
PY - 1997/11/25
Y1 - 1997/11/25
N2 - 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 hyperreflexia and a proprioceptive sensory deficit, but without dystonia; and type B (intermediate type), the remaining patients with a mixed presentation.
AB - 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 hyperreflexia and a proprioceptive sensory deficit, but without dystonia; and type B (intermediate type), the remaining patients with a mixed presentation.
KW - CAG repeat length
KW - Deep tendon reflexes
KW - Disease duration
KW - Machado-Joseph disease
KW - Proprioceptive sensory deficit
KW - Spinocerebellar ataxia type 1
KW - Spinocerehellar ataxia type 2
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U2 - 10.1016/S0022-510X(97)00155-X
DO - 10.1016/S0022-510X(97)00155-X
M3 - Article
C2 - 9415538
AN - SCOPUS:0030694347
SN - 0022-510X
VL - 152
SP - 166
EP - 171
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
IS - 2
ER -