A Case of Huntington's Disease without Family History Who Has Diagnosed with CAG Repeat Expansion / 신경정신의학
Journal of Korean Neuropsychiatric Association
; : 752-757, 1998.
Article
en Ko
| WPRIM
| ID: wpr-109841
Biblioteca responsable:
WPRO
ABSTRACT
We report a 48-year-old female with typical symptoms of Huntington's disease, including involuntary movement, cognitive dysfunction and psychiatric symptoms such as personality change, emotional instability, persecutory ideation and depression, but without family history. The diagnosis of HD was confirmed a repetitive DNA sequence(CAG) amplification on HD locus by PCR and pAGE in this case. The DNA analysis showed that she had an allele with 43 repeat units, in the size range seen in HD chromosomes. So we reported this case with literature review.
Palabras clave
Texto completo:
1
Índice:
WPRIM
Asunto principal:
ADN
/
Reacción en Cadena de la Polimerasa
/
Enfermedad de Huntington
/
Discinesias
/
Depresión
/
Diagnóstico
/
Alelos
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
Idioma:
Ko
Revista:
Journal of Korean Neuropsychiatric Association
Año:
1998
Tipo del documento:
Article