Creutzfeldt-jakob disease

We present three neuropathologically-verified and two clinically-probable cases of Creutfeldt Jakob disease. All five had nonspecific prodromal complaints or symptoms prior to overt neurological signs and showed striking progressive neurologic deterioration, especially cognitive decline and cerebellar dysfunction. Myoclonic involuntary movements and complete decapitated states followed in one or two months. The characteristic even pathognomonic in proper clinical settings, features of electroencephalography, magnetic resonance imaging and positron emission tomography and pathologic findings are presented.

Clinical analysis of huntington's disease in Korea

Huntington's disease(HD) is clinically diagnosed by the triad of autosomal dominant inheritance, involuntary movements mainly chorea, and dementia. The phenotype of HD is variable and other diseases can have the same phenocopy. A definite diagnosis of Huntington's disease cannot be made by clinical informations alone Pathologic or genetic studies was necessary to exclude other neurodegenerative diseases which may present with familial dementia or chorea. Therefore, genetic studies of HD become essential for confirmatory diagnosis. Recent discovery of an expanded CAG trinucleotide repeat at the telomeric position of chromosome 4p made the diagnosis possible even in sporadic and presymptomatic cases. We previously demonstrated expantion of CAG repeats in clinically diagnosed HD, and were able to find presymptomatic. We herein present the clinical and genetic information in all the cases of genetically confirmed HD. 1) There was a clear gap between the number of CAG repeats in HD and normal and disease control. 2) Two out of three patients who had chorea without family history were confirmed as HD by genetic study. 3) One who had psychosis and a family history of HD was shown not to be HD. 4) We found 12 asymptomatic cases with HD mutation during family screening. 5) Caudate atrophy in MRI was not seen in the early stage of HD. Our data confirms that gene analysis is a powerful tool to make a diagnosis of HD even in sporadic and presymptomatic cases. Proper genetic counselling after judicious preparation of the family and society is sorely needed.

Clinical analysis of huntington's disease in Korea

Huntington's disease(HD) is clinically diagnosed by the triad of autosomal dominant inheritance, involuntary movements mainly chorea, and dementia. The phenotype of HD is variable and other diseases can have the same phenocopy. A definite diagnosis of Huntington's disease cannot be made by clinical informations alone Pathologic or genetic studies was necessary to exclude other neurodegenerative diseases which may present with familial dementia or chorea. Therefore, genetic studies of HD become essential for confirmatory diagnosis. Recent discovery of an expanded CAG trinucleotide repeat at the telomeric position of chromosome 4p made the diagnosis possible even in sporadic and presymptomatic cases. We previously demonstrated expantion of CAG repeats in clinically diagnosed HD, and were able to find presymptomatic. We herein present the clinical and genetic information in all the cases of genetically confirmed HD. 1) There was a clear gap between the number of CAG repeats in HD and normal and disease control. 2) Two out of three patients who had chorea without family history were confirmed as HD by genetic study. 3) One who had psychosis and a family history of HD was shown not to be HD. 4) We found 12 asymptomatic cases with HD mutation during family screening. 5) Caudate atrophy in MRI was not seen in the early stage of HD. Our data confirms that gene analysis is a powerful tool to make a diagnosis of HD even in sporadic and presymptomatic cases. Proper genetic counselling after judicious preparation of the family and society is sorely needed.

Botulinum A Toxin Treatment of Hemifacial Spasm: The Dose-response Relationship in Orbicularis Oculi

Forty-one patients with hemifacial spasm received botulinum A toxin in total 73 visits. In 68 of 73 visits(93%), substantial improvement with peak effect(change in severity of hemifacial spasm 22 ) was obtained, with a mean total dose of 12.5 units. Mean severity of hemifacial spasm before and after treatrnent were 3.8 and 1.1 respectively on a 0-5 scale. Mean muscle dose of orbicularis oculi was 9.0 units There was a significant association between muscle dose and post-treatment weakness of orbicularis oculi(Spearman correlation coefficient, 0.42691). There was also a striking and significant association between post-treatment weakness of orbicularis oculi and peak effect(Spearman correlation coefficient, 0.74883). Lagophthalmos occurred only in 2 of 28 visits (7%) who received lesser than 10.0 units for orbicularis oculi as compard to 22% in the higher dose group. But peak effects showed no significant difference between the two groups(p =O.I30). We suggest that the occurrence of lagophthalmos can be reduced with the dose lesser than 10.0 units for orbicularis oculi, maintaining the significant effect.

Injection Sites and Doses in the Treatment of Cervical Dystonia with Botulinum A Toxin: A Preliminary Report

We administered local injections of botulinum A toxin to 15 patients wlth medically intratrable cervical dystonia Thirteen of the patients (87%) improved substantially (global effect >or=3 ; fiom -l = aggravated to +5 = markedly improved, fully functional, very happy with the results), with a mean total dose of 75.9 units. Of the 8 patients who reported pain, 7 (88%) had almost complete re!ief of pain. Only 6 of 15 (40%) patients had mild to moderate complications. More muscles had been injected in rotatocollis (mean, 5.2) than in laterocollis (mean, 3.0) (p<0.05). The global effects in rotatocollis (mean, 3.4) and laterocollis (mean, 3.3) were significantly better than anterocollis (mean, 1.5) (p<0.05). We conclude that botulinum A toxin is also effective in low doses when given in due consideration of the cervical muscle contraction patterns.

Dyke-Davidoff-Masson Syndrome Associated with Occlusion of Internal Carotid Artery

No abstract available.

Survival Prediction of Ganglio-thalamic Hemorrhage Accompanying Intraventricular Hemorrhage Using CT Scan Indices

To develop a survival prediction model and to use it as a therapeutic guideline a series of 66 cases with ganglio-thalamic hemorrhage accompanying intraventricular hemorrhage were analyzed retrospectively. They were classified into the benign and fatal groups according to their final outcomes. Fourteen indices obtained from the initial CT scans were final outcomes. Fourteen indices obtained from the initial CT scans were subjected to multivariate discriminant analysis. The resultant discriminant function(Z) included the amount of hematoma in the parenchyme(AH), bicaudate cerebroventricular index(BCCI) maximum fourth ventricular width(FVW), and third cerebroventricular ratio(TCR) in an order of decreasing discriminating power and was as follows: Z = -3.2639 + 0.3508 X 10(-1) X AH + 6.8816 X BCCI + 0.1139 X FVW-5.7794 X TCR. This function predicted survivability with accuracy of 84.9% when it was applied to the original subjects. The conclusion is that AH, BCCI, FVW, and TCR are the potent predictors of the survival of patients with ganglio-thalamic hemorrhage accompanying intraventricular hemorrhage.

Clinical and CT Characteristics of SAH with no Aneurysm Visualized on the First Angiogram

A retrospective study was performed to provide the clinical and radiological grounds for decision-making as to whether the next cerebral angiography is to be followed when no aneurysm is revealed on the first procedure in patients with spontaneous subarachnoid hemorrhage. Thc clinical courses of 22 patients who showed no aneurysm on their first angiogram(unproven group) were compared with those of 19 patients of the similar clinical status whose aneurgsm(s) was/were proven but not operated(non-operated group). The results were: 1)The incidences of vasospasm, hydrocephalus, electrolyte disturbances, infections, and gastrointestinal bleeding were similar between the groups; 2)Rebleeding was Iess frequent in thc unproven group(p<.05); 3) Neurological outcomes were also significantly beffer in the unproven group(p<.018; 4) The distributions of blood clots in the subarachnoid space were less predictive of aneurysmal site in the unproven group. Considering thc better prognosis and the nonspecific CT findings of the unproven group, our results suggest that when no aneurysm is demonstrated on the first angiogram, the repeated angiography may not be necessary.

Current Status of Cerebrovascular Disease in Korea

To evaluate the current status of cerebrovascular disease in Korea, we performed a retrospective study on 1260 cases of stroke who had been admitted to or had visited Seoul National University Hospital, Choongnam National University Hospital, Hanyang University Hosipital, and Chung Ang University Hospital in the period from Jul 1, 1986 to Jun 30, 1987. The incidence was highest in sixth and seventh decades. Ischemic stroke (51.1%) was more common thar, hemorrhagic stroke (47.6%), and thrombotic infarction was the leading type (37.7%) of all kinds of strokes. Middle cerebral arterial territory was the most commonly involved site in thrombotic and embolic stroke. Among intracerebral hemorrhage, basal ganglia hemorrhage was found in 47.7%, and was followed by thalamic(23.8%), lobar (15.3%) and pontine hemorrhage (9.4%). Primary intraventricular hemorrhage (IVH) was relatively rare (8 cases, 7.5% of all IVH), and hemorrhages in basal ganglia or thalamus frequently induced secondary IVH. 16 cases (10.7%) of subarachnoid hamorrhage were accompanied by secondary IVH. This study suggests changing trends of stroke in Korea, and multicenter prospective study using stroke registry is requird for confirmation.

Serum Lipids in the Patients with Cerebral Thrombosis

To evaluate the role of serum lipids in the patients with cerebral thrombosis, lipid parameters were compared with a sex- and age - matched healthy control. The cerebral thrombosis group included 61 males (mean age, 61.0) and 32 females (mean age, 66.3). Total cholesterol and total/HDL-cholesterol ratio in the male and female patients were significantly higher than in the control(p<0.001). But triglyceride showed difference only in the male patient group (p<0.05). All parameters did not show any difference between the lacunar and cortical infarctions. The finding in this study support the idea that high serum total cholesterol, low serum HDL-cholesterol and high total / HDL-cholesterol ratio are risk factors for cerebral thrombosis.

The Clinical Course of Childhood Myasthenia Gravis

The clinical course of nine cases of myasthenia gravis in the young age group was reviewed. All patients included in the study were under the age of 17 years and had more than 2 year follow-up. There were 5 males and 4 females, with onset of symptoms between 1 7/12 and 13 years (mean:5.8 years). All patients were initially presented with ptosis and 5 cases out of 9 cases were presented with diplopia concomittantly. Previous infection history was noted in 2 cases out of 9 cases. Ocular type was predominate (78%) and in 4 cases out of 9 cases of ocular type, complete remission was eventually developed. In the remaining 3 cases, 2 cases were improved and one case remained unchanged. In generalized type, one case was improved and one case became worse. All of these findings indicate that childhood myasthenia gravis has good prognosis and special attentions are needed for the proper treatment.

A Case of Spinal Myoclonus Associated with Acute Intermittent Porphyria

A case of acute intermittent porphyria associated with intermittent attacks of spinal myoclonus in the neck and both shoulders is reported. The patient, a 19-year-old male had also presented with attacks of intermittent left arm monoparesis and passed port-wine clored urine that was responsible for positive Watson-Schwartz reaction, about 5 weeks after taking medication including haloperidol, phenobarbital, trihexyphenidyl hydrochloride and clonazepam for the treatment of myoclonus and concomitantly complained abdominal pain and mental symptoms with the recurrence of left arm monoparesis. Each attacks of spinal myoclonus and monoparesis recovered completely.

A Case Report of Pseudopseudohypoparathyroidism

A case of pseudopseudohypoparathyroidism is reported. The patient, a 23-year-old man, has suffered from generalized tonic-clonic seizure for 16 years and gait disturbance for 4 years. He has the phenotypic features of Albright's hereditary osteodystrophy. But the levels of parathyroid hormone, serum calcium and phosphorus are all normal. The case is presented with the reviewed of the literature.

A Case of Diabetic Proximal Mator Neuropathy Presented with Brachial Paralysis

A case of diabetic proximal motor neuropathy presented with left brachial paralysis is reported. In a 52-year-old male patient, the initial manifestation was the weakness of the predominantly proximal part of left upper limb, which progressed to the lower limb of the same side. There complications gave the opportunity to recognize and treat diabetes mellitus more promptly. The weakness recovered after one month with diabetic control but recurred mainly in the same lower limb and eventually achieved good functional result three months after.

Palatal Myoclonus Associated with Cerebral Cysticercosis

A case of palatal myoclonus associated with cerebral cysticercosis is reported. The patient, a 54-year-old man, presented with clicking sound in the left ear for 2 years duration. Cerebral cysticercosis was con-firmed by pathologic diagnosis and CSF specific IgG antibody test. The brain CT disclosed multiple intraparenchymal punctate calcifications including left dentate nucleus. All of these findings indicate that one of the basic pathophysiologic mechanisms of palatal myoconus is the defect of ipsilateral dentate nucleus and this lesion can be evoked by the cysticercosis.