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1.
Psychiatry Investigation ; : 226-229, 2009.
Artigo em Inglês | WPRIM | ID: wpr-183811

RESUMO

Hallervorden-Spatz disease (HSD) is a rare autosomal-recessive hereditary disorder characterized by the early onset of progressive movement alterations, including dystonia, rigidity, choreoathetosis, and mental deterioration. HSD is also associated with a variety of psychiatric symptoms, primarily depression and mental deterioration. However, psychosis has rarely been reported as a major symptom of HSD. We report two siblings who presented psychiatric symptoms as major clinical presentations, accompanied by ataxic and spastic gait, dysarthria, and typical neuroimaging findings of HSD. A 14-year-old girl presented complex motor tics, stereotypic behavior and anxiety symptoms. Her older brother, a 16-year-old boy, presented prominent auditory hallucinations, persecutory delusions and social withdrawal symptoms. Psychiatric symptoms were improved after atypical antipsychotic treatment. HSD is a rare disease but should be carefully considered in the diagnosis of patients with both motor disorder and various psychiatric symptoms.


Assuntos
Adolescente , Humanos , Ansiedade , Delusões , Depressão , Disartria , Distonia , Transtornos Neurológicos da Marcha , Alucinações , Neuroimagem , Neurodegeneração Associada a Pantotenato-Quinase , Transtornos Psicóticos , Doenças Raras , Irmãos , Síndrome de Abstinência a Substâncias , Tiques
2.
Journal of Korean Medical Science ; : 1038-1044, 2009.
Artigo em Inglês | WPRIM | ID: wpr-203392

RESUMO

Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding regions of CLCN1 in patients clinically diagnosed with MC, and identified 10 unrelated Korean patients harboring mutations. Detailed clinical analysis was performed in these patients to identify their clinical characteristics in relation to their genotypes. The CLCN1 mutational analyses revealed nine different point mutations. Of these, six (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, and p.M609K) were novel and could be unique among Koreans. While some features including predominant lower extremity involvement and normal to slightly elevated creatine kinase levels were consistently observed, general clinical features were highly variable in terms of age of onset, clinical severity, aggravating factors, and response to treatment. Our study is the first systematic study of MC in Korea, and shows its expanding clinical and genetic spectrums.


Assuntos
Adulto , Pré-Escolar , Humanos , Lactente , Masculino , Adulto Jovem , Sequência de Aminoácidos , Povo Asiático/genética , Sequência de Bases , Canais de Cloreto/genética , Análise Mutacional de DNA , Éxons , Coreia (Geográfico) , Dados de Sequência Molecular , Miotonia Congênita/genética , Mutação Puntual , Conformação Proteica
3.
Psychiatry Investigation ; : 286-293, 2009.
Artigo em Inglês | WPRIM | ID: wpr-134179

RESUMO

OBJECTIVE: We investigated the neurocognitive deficits in schizophrenic patients with and without obsessive-compulsive disorder (OCD). METHODS: We grouped 27 patients as either obsessive-compulsive or non-obsessive-compulsive based on the presence of OCD. The two groups completed the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS), Positive and Negative Symptom Scale (PANSS), and Hamilton Depression Scale. The intelligence quotient (IQ) was tested using the Korean Wechsler Adult Intelligence Scale. The memory quotient (MQ) was tested using the Korean-Auditory Verbal Learning and Korean-Complex Figure Test. The executive intelligence quotient (EIQ) was determined using the Kims executive intelligence test (EXIT). RESULTS: Ten of the 27 patients had OCD. The compulsion score of Y-BOCS was positively correlated with positive symptoms, negative symptoms, and the total scores of PANSS. The OCD-schizophrenia patients had higher IQs. No difference was found in MQ. Although the EIQ did not differ between the two groups, the OCD-schizophrenia patients performed better at the Stroop-interference and verbal fluency tests, which was highly dependent on executive function. CONCLUSION: Our findings suggest that OCD may have a protective effect on some cognitive function, at least in relatively early stage of illness. Moreover, based on clinical, neurocognitive features, schizophrenia with OCD could be considered as a distinct subtype of schizophrenia.


Assuntos
Adulto , Humanos , Depressão , Função Executiva , Inteligência , Testes de Inteligência , Memória , Transtorno Obsessivo-Compulsivo , Esquizofrenia , Aprendizagem Verbal
4.
Psychiatry Investigation ; : 286-293, 2009.
Artigo em Inglês | WPRIM | ID: wpr-134178

RESUMO

OBJECTIVE: We investigated the neurocognitive deficits in schizophrenic patients with and without obsessive-compulsive disorder (OCD). METHODS: We grouped 27 patients as either obsessive-compulsive or non-obsessive-compulsive based on the presence of OCD. The two groups completed the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS), Positive and Negative Symptom Scale (PANSS), and Hamilton Depression Scale. The intelligence quotient (IQ) was tested using the Korean Wechsler Adult Intelligence Scale. The memory quotient (MQ) was tested using the Korean-Auditory Verbal Learning and Korean-Complex Figure Test. The executive intelligence quotient (EIQ) was determined using the Kims executive intelligence test (EXIT). RESULTS: Ten of the 27 patients had OCD. The compulsion score of Y-BOCS was positively correlated with positive symptoms, negative symptoms, and the total scores of PANSS. The OCD-schizophrenia patients had higher IQs. No difference was found in MQ. Although the EIQ did not differ between the two groups, the OCD-schizophrenia patients performed better at the Stroop-interference and verbal fluency tests, which was highly dependent on executive function. CONCLUSION: Our findings suggest that OCD may have a protective effect on some cognitive function, at least in relatively early stage of illness. Moreover, based on clinical, neurocognitive features, schizophrenia with OCD could be considered as a distinct subtype of schizophrenia.


Assuntos
Adulto , Humanos , Depressão , Função Executiva , Inteligência , Testes de Inteligência , Memória , Transtorno Obsessivo-Compulsivo , Esquizofrenia , Aprendizagem Verbal
5.
Journal of Korean Neuropsychiatric Association ; : 311-317, 2008.
Artigo em Coreano | WPRIM | ID: wpr-224907

RESUMO

OBJECTIVES: The purpose of this study was to investigate the regional differences of the basal ganglia volume between the boy subjects who have Tourette's disorder and the control group who don't have this disorder by using Brain MRI. METHODS: Sixteen subjects who were diagnosed as Tourette's disorder using DSM-IV criteria, and sixteen healthy subjects were selected. For analysis the coronal slice images of the basal ganglia were collected and collected MR images were analyzed with NIH Image (version 6.1 ppc). RESULTS: The total brain volume in the subjects with Tourette's disorder were smaller than control group by 6.2% (F=6.2, d.f.=1, p=0.019). The right putamen volume in boys with Tourette's disorder were significant smaller than control group statistically (F=3.2, d.f.=3, p=0.040). The asymmetry (left>right) in the globus pallidus decreased significantly in the boys with Tourette's disorder (p=0.06) were found from this experiment. CONCLUSION: These findings suggest that boys with Tourette's disorder may have neuropathological abnormalities in the basal ganglia. Moreover, the present findings point out the important role of basal ganglia, especially putamen, in pathophysiology of Tourette's disorder. More studies about the structural and functional analysis of the basal ganglia in Tourette's disorder are highly required.


Assuntos
Gânglios da Base , Encéfalo , Manual Diagnóstico e Estatístico de Transtornos Mentais , Globo Pálido , Putamen , Síndrome de Tourette
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