歯状核赤核淡蒼球ルイ体萎縮症（DRPLA）—臨床型（若年型，早期成人型および遅発成人型）に関する病理形態学的比較

Dentatorubropallidoluysian Atrophy (DRPLA) : Comparative Pathologioal Study on Clinical Groups Classified into Juvenile, Early Adult and Late Adult Types

　歯状核赤核淡蒼球ルイ体萎縮症（DRPLA）12剖検例を内藤（1990）にならい発病年齢別に，若年型（6例），早期成人型（4例），遅発成人型（2例）に分け，臨床病理学的に検討した。進行性ミオクローヌスてんかん（PME）症候群を示す若年型では，淡蒼球病変が歯状核病変よりも強く，脳幹・脊髄の萎縮が比較的軽いこと，ミオクローヌスとてんかん発作が比較的軽い早期成人型では，淡蒼球と歯状核病変は同程度と思われる例が多く，脳幹・脊髄の萎縮は若年型に類似して比較的軽いこと，更に，PME症候群を示さない遅発成人型では，淡蒼球病変よりも歯状核病変が強く，脳幹・脊髄の萎縮も極めて強いことが示された。また，歯状核病変が著明な例では，脳幹・脊髄の萎縮の程度も強い傾向がみられたが，これは，DRPLAにおける舞踏病アテトーゼ様運動の発現が歯状核病変ばかりでなく，脳幹や脊髄の萎縮の程度とも密接に関連している可能性も考えられた。

We performed a clinicopathological study on 12 autopsied cases of dentatorubropallidoluysian atro-phy. They were divided into 3 groups accoriding to the age at onset : juvenile type (6 cases), early adult type (4 cases) and late adult type (2 cases) . In juvenile type showing progressive myoclonus epi-lepsy (PME) syndrome, degeneration of the globus pallidus was more marked than that of the dentate nucleus. Mild to moderate atrophy was seen in the brain stem and spinal cord. In early adult type showing milder symptom of myoclonus and epi-lepsy, the globus pallidus and dentate nucleus were equally degenerated to various extents in most cases. Atrophy of the brain stem and spinal cord was mild to moderate in degree. In late adult type without PME syndrome, degeneration of the dentate nucleus was more marked than that of the globus pallidus. The brain stem and spinal cord were severely atrophic. On the other hand, the cases showing severe dentate lesion had a tendency to show severe atrophy of the brain stem and spinal cord. We consider that development of myoclonus, epilepsy and choreoathetoid movement in DRPLA patients has close relation to the extent of not only degeneration of the globus pallidus and dentate nucleus, but also atrophy of the brain stem and spinal cord.