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- W4377204037 abstract "Adult-onset Alexander Disease (AOAD) is a rare genetically determined leukoencephalopathy that presents with ataxia, spastic paraparesis, or brain stem signs including speech abnormalities, swallowing difficulties, and frequent vomiting. The diagnosis of AOAD is frequently proposed based on the findings on MRI. We demonstrate two cases (37-year-old female and 61-year-old female) with characteristic imaging findings and changes in follow-up MRI in patients with AOAD, which were confirmed via glial fibrillary acidic protein (GFAP) mutation analysis. On MRI, the typical tadpole-like brainstem atrophy and periventricular white matter abnormalities were noted. The presumptive diagnoses were made based on the typical MRI appearances and, subsequently, confirmed via GFAP mutation analysis. Follow-up MRI demonstrated the progression of atrophy in the medulla and upper cervical spinal cord. Our report could help raise awareness of characteristic MRI findings of AOAD, thus helping clinicians use GFAP analysis for AOAD diagnosis confirmation.성인형 알렉산더병은 운동 실조, 경련성 마비 또는 뇌간 징후를 나타내는 드문 유전 질환이다.성인형 알렉산더병의 진단은 흔히 자기공명영상 검사 소견을 통해 내려진다. 이에 저자들은 glial fibrillary acidic protein (이하 GFAP) 유전자 변이 분석을 통해 확진된 37세와 61세 성인형 알렉산더병 환자의 특징적인 자기공명영상 소견과 추적 검사상 변화 사례에 대해 보고하고자 한다. 자기공명영상에서 환자들은 전형적인 뇌간 위축과 백질 이상 소견을 보였다. 특징적인 자기공명영상을 바탕으로 추정진단을 내렸으며 이후 GFAP 유전자 변이 분석을 통해 확진되었다. 또한, 추적 관찰 검사에서 연수와 상부 경부 척수 위축의 진행을 보였다. 이러한 성인형 알렉산더병의 특징적인 자기공명영상 소견에 대한 이해를 바탕으로, 감별진단을 위한 GFAP 유전자 검사 시행 결정에 도움이 될 수 있을 것이다." @default.
- W4377204037 created "2023-05-22" @default.
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- W4377204037 date "2023-01-01" @default.
- W4377204037 modified "2023-09-25" @default.
- W4377204037 title "Characteristic MR Imaging Features and Serial Changes in Adult-Onset Alexander Disease: A Case Report" @default.
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- W4377204037 doi "https://doi.org/10.3348/jksr.2021.0015" @default.
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