2024-03-28T23:36:48Z
https://niigata-u.repo.nii.ac.jp/oai
oai:niigata-u.repo.nii.ac.jp:00018679
2022-12-15T03:49:47Z
453:456
471:537:538:1139
1)Machado-Joseph病の臨床像について : 特に周辺疾患との鑑別を中心に(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)
1)Machado-Joseph病の臨床像について : 特に周辺疾患との鑑別を中心に(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)
Clinical Features of Machado-Joseph Disease : a Special Reference for Differential Diagnosis of Autosomal Dominant Ataxia, SCA-1, SCA-2 and DRPLA (Pathophysiology of Hereditary Neurologic Diseases)
湯浅, 龍彦
Machado-Joseph disease
SCA-1
SCA-2
DRPLA
脊髄小脳変性症
ジョセフ病
メンツェル病
遺伝性 OPCA
歯状核
赤核
淡蒼球
ルイ体萎縮症
Recent advances in molecular genetics has clarified the disease locus in the chromosomal mapping, including chromosome 6p for SCA-1, chromosome 12q for Menzel (SCA-2), chromosomal 12p for DRPLA, and chromosome 14q for MJD. In this article I will discuss about the clinical viewpoints, which favorate for making the differential diagnosis of Machado-Joseph disease (MJD) from other form of autosomal dominant spinocerebellar atrophy, including Yakura (SCA-1), Menzel (SCA-2), and DRPLA. The symptoms and signs of cerebellar ataxia, including gait ataxia are the most common features among these dominantly inherited ataxic diseases, and there are only a few but important markers left for differential diagnosis. The overt external ophtalmoplegia is a cardinal feature for MJD as well as for SCA-1, but not for DRPLA and SCA-2. Slow saccade eye movement is a popular sign for both SCA-1 and SCA-2. Mental deterioration and dementia are scarecely seen in patients with MJD, but are frequently seen in DRPLA, SCA-1 and also in SCA-2. Epileptic seizure is hardly seen in MJD, and SCA-1 and SCA-2, but is one of important features of DRPLA. Investigation of family members of these diseases is needed for making clinical and genetical diagnosis precisely.
新潟医学会
1995-04
jpn
departmental bulletin paper
http://hdl.handle.net/10191/42312
https://niigata-u.repo.nii.ac.jp/records/18679
AN00182415
00290440
新潟医学会雑誌
新潟医学会雑誌
109
4
155
161
https://niigata-u.repo.nii.ac.jp/record/18679/files/109(4)_155-161.pdf
application/pdf
1.3 MB
2019-08-08