We report a right-handed 62-year-old man with early onset familial
parkinsonism. The patient was well until 24 years of the age when he noted an onset of
resting tremor in his right hand. During the next four years, he noted rigidity,
bradykinesia, and difficulty in walking. He was seen in another hospital at 28 years of the age, where he received left
pallidotomy. Rigidity on the left side showed marked improvement. He received right
pallidotomy at age 30 years. He developed right
hemiplegia after this surgery. He was admitted to our hospital in March, 1983 when he was 51 years of the age. He was treated with
levodopa but improvement was rather of minor degree. He was transferred to another hospital, but his motor disturbance progressed slowly, and was admitted again to our hospital in November 1990. He had 6 siblings 4 of whom including himself suffered from
parkinsonism. No consanguinity was noted in parents. On admission, he appeared
chronically ill but the general physical examination was unremarkable. Neurologic examination revealed an alert and mentally sound man. Hasegawa
dementia scale was 28.5/32.5. Upward gaze was slightly restricted (3/5). Cranial nerve examination revealed oculogyric crisis,
apraxia of eyelid opening, masked face, and small voice. He was able to stand with support; his posture showed left-ward leaning. He had right
hemiparesis with moderate weakness. He showed marked
bradykinesia and moderate rigidity in his left upper extremity. Fine postural
tremor was noted in the left hand. Deep tendon reflexes were diminished in the upper extremities. No Babinski sign was noted.
Pain sensation was somewhat diminished on the right side. Results of routine laboratory examination were unremarkable. Cranial CT scan revealed
atrophy in the frontal lobe, particularly in the prefrontal area. In addition, MRI revealed T1-and-T2-low signal intensity lesions in the right ventral pallidal region and in the left ventrolateral thalamic-hypothalamic areas. He was treated with 600 mg of
levodopa with
benserazide and 22.5 mg of
bromocriptine with mild to moderate improvement in his
bradykinesia and rigidity. He was discharged in January 1991. His
clinical course was complicated by
intestinal obstruction in October, 1994. He was admitted to another hospital where he was operated on the obstruction on November 5, 1994. The sigmoid colon was markedly dilated but no mass was found. Postoperative course was uneventful until November 18, 1994 when he was found dead in his hospital room shortly after 4 am. The patient was discussed in neurological
CPC, and the chief discussant arrived at the conclusion that the patient had young-onset familial Lewy body-negative
parkinsonism. Opinions were divided between Lewy body-positive familial
Parkinson's disease and Lewy body negative young onset
parkinsonism. Postmortem examination revealed
aspiration pneumonia, which appeared to be the cause of his death, in the right lung. Neuropathologic examination revealed loss of malanized neurons in the substantia nigra and the locus coeruleus. In the substantia nigra, neuronal loss was particularly severe in the ventrolateral area. No Lewy bodies were seen. The dorsal motor nucleus of the vagal nerve was well preserved. Stereotaxic lesions involved bilateral thalamic areas. This patient appears to represent a case of
autosomal recessive juvenile parkinsonism (AR-JP). Early onset, superb response to
levodopa, sleep effect, and easy development of
dyskinesias and motor fluctuations characterize AR-JP. The reason why this patient did not show these clinical features is probably bilateral sterotaxic surgeries. Particularly, the second surgery was complicated by right
hemiparesis. His siblings who developed
parkinsonism showed typical clinical features of AR-JP.