We report a 73-year-old Japanese woman with familial Parkinson's disease. The 
patient was well until her 67 years of the age, when she noted rest tremor in 
her right hand. Soon after her gait became short stepped. She visited our clinic 
on October 6, 1992 when she was 68 years old. She was alert and well oriented 
without dementia. She showed masked face, small voice, small stepped gait, 
retropulsion, resting tremor in her right hand, rigidity in the neck, and 
bradykinesia. She was treated with 400 mg/day of levodopa-carbidopa, which 
improved her symptoms, however, she developed wearing off phenomenon 3 years 
after the initiation of levodopa treatment. On August 26, 1998, she developed 
abdominal pain, diarrhea, and vomiting. She was admitted to another hospital, 
where abdominal plain x-ray revealed an evidence of intestinal obstruction 
(ileus). She was treated with nasogastric suction and intravenous fluid. Her 
condition did not improve and she was transferred to our hospital on August 29, 
1998. Her family history revealed no consanguineous marriage. She had two elder 
brothers and three elder sisters. One of her brothers had been diagnosed as 
Parkinson's disease. Her husband also suffered from Parkinson's disease, 
however, her parents apparently did not have Parkinson's disease. On admission, 
she appeared to be drowsy. Her blood pressure was 102/70 mmHg, body temperature 
36.2 degrees C. The lungs were clear and no cardiac murmur was present. Abdomen 
was flat and bowel sound was audible. No abnormal mass was palpable. Neurologic 
examination revealed mild consciousness disturbance, masked face, and small 
voice. No motor paralysis was noted. Muscle tone was hypotonic. No abnormal 
involuntary movement was noted. Abnormal laboratory findings on admission were 
as follows; WBC 11,300/microliter, amylase 1,373 IU/l, CK 446 IU/l, BUN 50 
mg/dl, creatinine 1.17 mg/dl, CRP 22.7 mg/ dl, Na 134 mEq/l, K 3.1 mEq/l, and Cl 
81 mEq/l. A chest x-ray film revealed pneumonic shadows in both lower lung 
fields. She was treated by nasointestinal suction, intravenous fluids, and 
chemotherapy for her infection. Her BP started to drop on September 2 and she 
developed cardiac arrest on the same day. She was discussed in a neurological 
CPC. The chief discussant arrived at the conclusion that the patient had a form 
of autosomal dominant familial Parkinson's disease. As parents did not have 
Parkinson's disease, some of the participants raised the possibility of 
autosomal recessive inheritance. But the age of onset was too late for autosomal 
recessive inheritance. Majority thought that the mode of inheritance was 
autosomal dominant with low penetrance. alpha-Synuclein mutation causes an 
autosomal dominant familial Parkinson's disease, but this type is very rare in 
non-Greek populations and the penetrance is high. Chromosome 2-linked autosomal 
dominant familial Parkinson's disease shows low penetrance. There are many other 
autosomal dominant forms of familial Parkinson's disease linked to yet unknown 
chromosome loci. Majority thought that this patient also had a form of Lewy-body 
positive autosomal dominant familial Parkinson's disease of unknown chromosome 
locus. Post mortem examination revealed ischemic intestinal lesion with 
strangulation. This was thought to be the cause of her death. In the central 
nervous system, the brain appeared to be normal by inspection. In the coronal 
sections, the substantia nigra and the locus coeruleus showed marked 
depigmentation. Histologic examination revealed marked neuronal loss and Lewy 
body formation in the remaining neurons. Pathologic examination was consistent 
with Parkinson's disease. Mutational analysis for the parkin gene was negative.