Familial juvenile parkinsonism.
Some cases of parkinsonism without Lewy bodies were detected, although the presence of Lewy bodies is a diagnostic criterion for PD. Thereafter, similar cases were repeatedly encountered by researchers at Juntendo University, Tokyo. Groups in Niigata and Hiroshima also reported cases of parkinsonism without Lewy bodies, which suggests that such cases occur frequently in Japan. Clinically, most of these are cases of typical juvenile parkinsonism (JP) and have sufficient response to levodopa therapy. Diurnal motor fluctuations were mentioned in some reports. The clinical findings vary slightly from case to case but the primary pathological finding is restricted to the substantia nigra. Therefore, JP almost certainly results from a dopamine deficiency in the nigrostriatal system. However, the absence of Lewy bodies raises the possibility of differences in the degenerative process from a general pathology of the substantia nigra with the Lewy bodies. Many cases without Lewy bodies are familial cases with autosomal recessive (AR) inheritance. Both factors may be integrated in a single disease although this is still uncertain. Families in which JP appeared to be inherited in an autosomal dominant (AD) manner as well as those in which it appeared to be inherited in an AR manner were identified. The onset ages of the probands were slightly higher in the former than in the latter families. The age of onset in AD inheritance family cases may coincide with an age of onset of typical JP due to anticipation of the disease. The sporadic cases, which account for half of the JP cases, require further analysis.
Yokochi
M
M
Department of Neurology, Tokyo Metropolitan Ebara Hospital, Japan.
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000978:Antiparkinson Agents / Q000627:therapeutic use; D002648:Child; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D016631:Lewy Bodies / Q000473:pathology; D008297:Male; D010300:Parkinson Disease / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology
D000978:Antiparkinson Agents; D007980:Levodopa