[Two siblings of juvenile Parkinson's disease dystonic type (Yokochi type 3) and hereditary progressive dystonia with marked diurnal fluctuation (Segawa)].
Two siblings of juvenile parkinson's disease dystonic type (JPA Yokochi type 3) and hereditary progressive dystonia with marked diurnal fluctuation (Segawa, HPD) were reported. The family had consanguinity. The elder brother suffered from resting tremor of legs, left foot dystonia and left pes equinovarus at the age of 12 years and 5 months. At the age of 15, he developed tremor and rigidity of upper extremities. These symptoms did not show diurnal fluctuation and markedly responded to L-dopa treatment. He implicated wearing-off phenomenon at the age of 16, and on-off phenomenon and L-dopa-induced dyskinesia at the age of 18. He was diagnosed as JPA Yokochi type 3. The younger brother suffered from left pes equinovarus, right scoliosis and foot dystonia at the age of 8 years. These symptoms showed remarkable diurnal fluctuation, which ameliorated after sleep or rest and worsened afternoon. He noticed fine postural tremor of upper extremities at psychological tense state and right pes varus at the age of 16. He received L-dopa at the age of 17 and became to be remission. He was diagnosed as HPD. Since these two disorders related to basal ganglia show similar clinical symptoms mainly consisting of foot dystonia and similar clinicopharmacological response to L-dopa, it has been assumed that shared abnormalities in pathomechanism can exist between them. This study indicates that the same gene-regulated abnormality may participate in the development of these two disorders.
Ujike
H
H
Nakashima
M
M
Kuroda
S
S
Otsuki
S
S
D002648:Child; D002940:Circadian Rhythm; D004421:Dystonia / Q000188:drug therapy / Q000235:genetics*; D005190:Family; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D010300:Parkinson Disease / Q000188:drug therapy / Q000235:genetics*
D007980:Levodopa