The Machado Joseph disease(MJD) is a progressive neurodegenerative disease with an autosomal dominant inheritance. Patients affected by MJD may present variable combinations of cerebellar ataxia, ophthalmoplegia, pyramidal tract signs, extrapyramidal signs, and peripheral neuropathy. Once, MJD was thought to be limited to the Portuguese from Azores islands, However, since the association of expanded CAG trinucleotide repeat in chromosome 14q32.1 was identified in the MJD, the genetic study has enabled clinicians to make accurate diagnosis and the patients with MJD have been reported in the families from many different races. We report members of a family, presenting with variable combinations of gait ataxia, dysarthria, ophthalmoplegia, pyramidal and extrapyramidal signs. We performed a genetic study in 3 clinically affected and 4 asymptomatic family members. Five of the seven had abnormally expanded CAG repeat number (range 71-84) on the long arm of chromosome 14, compatible with MJD.
Arm ; Azores ; Cerebellar Ataxia ; Chromosomes, Human, Pair 14 ; Continental Population Groups ; Diagnosis ; Dysarthria ; Gait Ataxia ; Humans ; Islands ; Machado-Joseph Disease* ; Neurodegenerative Diseases ; Ophthalmoplegia ; Peripheral Nervous System Diseases ; Pyramidal Tracts ; Trinucleotide Repeats ; Wills

OBJECTIVES: To explore the role of apolipoprotein E in schizophrenia, we investigated apoli-poprotein E polymorphism in groups of patients with schizophrenia and normal controls. We also examined the relationship of clinical characteristics of schizophrenia to apolipoprotein E genotypes. METHODS: Samples were obtained from 101 schizophrenic patients and 96 controls in Korea and apolipoprotein E polymorphisms were analysed using polymerase chain reaction. RESULTS: The genotype and allele frequencies did not differ from those of controls. The clinical variables of schizophrenia, such as positive and negative groups by PANSS, subtypes by DSM-IV, family history were not associated with each genotypes. CONCLUSION: We could not find the association of apolipoprotein E in Korean schizophrenic patients and it could be suggested that apolipoprotein E isoforms might not play a main role in expression of schizophrenia.
Apolipoproteins* ; Diagnostic and Statistical Manual of Mental Disorders ; Gene Frequency ; Genotype ; Humans ; Korea ; Polymerase Chain Reaction ; Protein Isoforms ; Schizophrenia

Spinocerebellar ataxia type 6 (SCA6) is classified as a CAG repeat disorder, where the number of expanded CAG repeats often undergoes meiotic instability, when transmitted from one generation to the next. However, in SCA6, both normal and expanded CAG repeats tend to remain stable during transmission due to its relatively small repeat numbers. We herein report de-novo expansion of CAG repeats in SCA6 gene in a 41-year-old female patient, whose parents had normal repeat numbers.

BACKGROUND: The various medical treatments applied to myoclonus-dystonia patients with a mutation of the epsilon-sarcoglycan gene (SGCE) have not been beneficial in most cases. Most patients experience progressive deterioration or static clinical courses, with only rare cases of spontaneous remission. CASE REPORT: A 19-year-old girl presented with a 14-year history of myoclonus and dystonia that severely affected her left arm, neck, and trunk. Genetic studies showed a mutation in SGCE [deletion in exon 6 (c.771_772delAT, Cys258X)]. Both myoclonus and dystonia responded to anticholinergic treatment for 7 years and improved spontaneously. CONCLUSIONS: The possibility of spontaneous improvement should be kept in mind when considering the therapeutic strategy in myoclonus-dystonia patients, especially when contemplating deep-brain stimulation.
Arm ; Cholinergic Antagonists ; Dystonia ; Exons ; Humans ; Myoclonus ; Neck ; Remission, Spontaneous ; Sarcoglycans ; Young Adult

The recent progress in the basic knowledge of basal ganglia pathways and advances in the techniques of the neuroimaging studies enabled subthalamic deep brain stimulation (STN DBS). In Korea, more than three hundreds and fifty patients with PD have been treated with STN DBS since the first trial at March 2000. STN DBS effectively improves all parkinsonian deficits occurring especially during levodopa 'off' period and decreases the daily 'off' time. The daily requirement of levodopa dosage can be reduced to about half of the preoperative one. The favorable responses to the STN DBS can be maintained even after five years. However, parkinsonian deficits during levodopa 'on' period can not be controlled as effectively as those during the levodopa 'off' period. The axial symptoms including gait disturbance and postural instability during the levodopa 'on' period cannot be improved or even are worsen by STN DBS. Patients aged over 70 frequently show less remarkable improvement of parkinsonian deficits than the younger ones. Therefore, selection of appropriate candidate for STN DBS is the most important factor deciding the outcome of the STN DBS.
Basal Ganglia ; Deep Brain Stimulation* ; Gait ; Humans ; Korea ; Levodopa ; Neuroimaging ; Parkinson Disease* ; Subthalamic Nucleus

A patient with Parkinson's disease developed fluctuation in the deep brain stimulation (DBS) effect, an unpleasant left facial paresthesia and the left limb dystonia. Impedance of the right DBS was over 2000 ohm in three proximal contacts. Skull X-ray studies showed partial breakage of right electrode lead below the mastoid process. Partial electrode breakage must be considered when there is a deterioration of the DBS effect, an unexpected side effect of DBS, and an alteration of impedance.
Deep Brain Stimulation* ; Dystonia ; Electric Impedance ; Electrodes* ; Humans ; Mastoid ; Paresthesia ; Parkinson Disease* ; Skull

BACKGROUND: Autosomal dominant cerebellar ataxia type II(ADCA type II) can be differentiated from other types of ADCA by visual disturbances due to pigmentary macular degeneration. Recent genetic studies repeatedly mapped the gene responsible for ADCA type II to chromosome 3p12-13(SCA7) in caucasian patients. However, in Asian patients CAG expansion at the SCA7 locus has not yet been reported. METHODS: We analyzed clinical data obtained from three Korean families in which 14 members presented clinical features compatible with ADCA type II. We also performed a genetic study for 17 members (7 affected and 10 asymptomatic) from two of the three families. RESULTS All seven affected patients had abnormally increased CAG repeat numbers (range : 38-59) in SCA7. One asymptomatic 23-year-old woman had 45 CAG repeats in the SCA7. Other 9 asymptomatic family members had 10 CAG repeats in the SCA7. CONCLUSION: We showed that as caucasian patients, Asian patients with ADCA type II also have abnormally increased CAG repeats at SCA7.
Asian Continental Ancestry Group ; Cerebellar Ataxia ; Female ; Humans ; Macular Degeneration ; Young Adult

BACKGROUND: Overlapping clinical features of idiopathic Parkinson's disease (IPD) and multiple system atrophy (MSA) make it difficult to conduct an accurate differential diagnosis. We performed a quantitative F18- fluorodeoxyglucose PET (FDG PET) and measured the striatal and cerebellar glucose metabolism to evaluate the efficacy of a FDG PET study in the differential diagnosis between IPD and MSA. METHODS: This study included 19 patients with IPD, 28 patients with MSA (MSA-P : MSA-C = 19 : 9) and 12 age matched normal controls. A FDG PET study was performed in all subjects and the original PET image was corrected with the radioactivity curve obtained by repetitive sampling of the radial arterial blood. RESULTS: The measurements of striatal and cerebellar glucose metabolisms of the patients with MSA-P were significantly lower than those of the patients with IPD (P<0.001). However, the measurement of the caudate nucleus provided the most reliable clue for the differential diagnosis between IPD and MSA-P (sensitivity 94.7% and specificity 94.7%). In the patients with MSA-C, the glucose metabolism of the cerebellar vermis (P<0.001), cerebellar cortex (P<0.001) and putamen (P<0.05) was significantly lower than those of the patients with IPD. CONCLUSIONS: Quantitative FDG PET is a useful and reliable method in making a differential diagnosis between IPD and MSA.
Caudate Nucleus ; Cerebellar Cortex ; Cerebellum ; Corpus Striatum ; Diagnosis, Differential* ; Fluorodeoxyglucose F18 ; Glucose ; Humans ; Metabolism ; Multiple System Atrophy* ; Parkinson Disease* ; Positron-Emission Tomography ; Putamen ; Radioactivity ; Sensitivity and Specificity

BACKGROUND: Abnormalities of the parkin gene is the most frequently found genetic abnormality in patients with sporadic young age onset of Parkinson's disease (PD). We investigated the frequency of abnormalities of the parkin gene in Korean patients with young age onset PD (YOPD). METHODS: This study included 18 patients (M : F=10:8) who developed PD before the age of 45. DNA was isolated from peripheral blood leukocytes. Exonal deletion and nucleotide sequence changes in the parkin gene was searched by quantitative PCR and sequencing of all coding regions. RESULTS: Only one patient had a heterozygous mutation at the nucleotide position 1473 in exon 12 (A1473C). The remaining 17 patients showed no mutations in the coding region of the parkin gene. In all 18 patients, we could not find any compound heterozygotic as well as homozygotic exonal deletion. The patient who had the heterozygotic point mutation in the parkin gene did not present any clinical features differentiating the patient from the others with YOPD. The frequency of parkin mutation in patients with YOPD in our series was 5.6 percent. CONCLUSIONS: In Korean patients with YOPD, the frequency of parkin mutation seems to be lower than that of other ethnic groups. Further studies with a larger number of patients with YOPD are needed to support this suggestion.
Base Sequence ; Clinical Coding ; DNA ; Ethnic Groups ; Exons ; Humans ; Leukocytes ; Parkinson Disease* ; Point Mutation ; Polymerase Chain Reaction