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

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

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.

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

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

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

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: Recent developments of molecular biological techniques have enabled the identification of genetic abnormalities responsible for the development of familial Parkinson's disease (PD). The alpha-synuclein, a major component of Lewy body in Parkinson's disease and of non-beta-amyloid components of amyloid plaques in Alzheimer's disease, has been identified as one of the factors associated with neurodegenerative diseases. Ala53Thr (G209A) mutation in alpha-synuclein was found in one Italian-American (Contursi) and five unrelated Greek familial PD with autosomal dominant inheritance. Efforts to find the same mutation in many other familial and sporadic PD patients were negative. However, another mutation (Ala30Pro(G88C)) of alpha-synuclein was found in one German person kindred. METHODS: We performed a genetic analysis to search for these two mutations in four unrelated Korean families with PD and 44 sporadic PD and 30 sporadic multisystem atrophy(MSA) patients. RESULTS: We did not find any mutations in the index patients of four families or in sporadic PD and MSA patients. CONCLUSIONS: These findings suggest the possibility that the two identified point mutations do not cause Korean sporadic and familial PD or sporadic MSA. Further evaluation including whole exons associated with the alpha-synuclein gene is needed.
alpha-Synuclein* ; Alzheimer Disease ; Exons ; Humans ; Lewy Bodies ; Neurodegenerative Diseases ; Parkinson Disease* ; Plaque, Amyloid ; Point Mutation* ; Wills

Dyskinesia hyperpyrexia syndrome is a rare medical emergency in Parkinson's disease. It is characterized by continuous dyskinesia associated with hyperthermia, rhabdomyolysis, and alteration of the mental state. We present the case of a 74-year-old woman who presented with recurrent dyskinesia hyperpyrexia syndrome. Although some provocation factors and clinical manifestations seem to be shared with parkinsonism hyperpyrexia syndrome, a clear distinction in management should be considered.
Aged ; Dyskinesias* ; Emergencies ; Female ; Fever ; Humans ; Parkinson Disease ; Parkinsonian Disorders ; Rhabdomyolysis