Predominant motor neuron involvement as a manifestation of pathogenic (full range) ATXN3 mutations.
Predominant motor neuron involvement as a manifestation of pathogenic (full range) ATXN3 mutations.
复制标题
主要运动神经元受累是致病性（全范围）ATXN3 突变的表现。
DOI：
10.1007/s10072-022-06410-3
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发表时间：
2023
期刊：
影响因子：
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通讯作者：
Wszolek,ZbigniewK
中科院分区：
文献类型：
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作者：
Dulski,Jarosław;Piña,AlexandraEstelaSoto;Al-Shaikh,RanaHanna;Petrucelli,Leonard;Wszolek,ZbigniewK
Weread with great interest the recent paper by Dong and colleagues on ATXN3 gene mutations manifesting as amyotrophic lateral sclerosis (ALS) mimics [1]. The paper reported three patients from two different pedigrees with intermediate-length CAG expansion in the ATXN3. We want to illustrate that pathogenic (full range) ATXN3 mutation may also present with the ALS-like phenotype.A 30-year-old female presented with distal weakness of the left hand that gradually progressed and involved the forearm, arm, and shoulder. In the next 2 years, her left hand became paralyzed, and she also noticed a worsening of the fine movements in her right hand. At 35 years, she noticed progressive weakness of the legs that was more prominent on the left side, and she became wheelchair-bound 2 years later. She also noticed mild swallowing problems with only occasional choking. Her cognition and autonomic system were not affected. However, she was diagnosed with mild
