An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism

详细信息    查看全文

• 作者：Munetsugu Hara^a ; Takahiro Inokuchi^b ; Takayuki Taniwaki^c ; Takanobu Otomo^d ; Norio Sakai^d ; Toyojiro Matsuishi^a ; Makoto Yoshino^a ; ^{yoshino_m@space.ocn.ne.jp}
• 关键词：GNPTAB ; N-acetylglucosamine-1-phosphate transferase ; alpha and beta subunits ; GNPTG ; N-acetylglucosamine-1-phosphate transferase ; gamma subunit ; ML III alpha/beta ; mucolipidosis type III alpha/beta ; ML II ; mucolipidosis type II ; MRI ; magnetic resonance im
• 刊名：Brain and Development
• 出版年：2013
• 出版时间：May, 2013
• 年：2013
• 卷：35
• 期：5
• 页码：462-465
• 全文大小：199 K

文摘

A 36-year-old man with mucolipidosis type III alpha/beta presented with hypoactivity, mutism, muscle rigidity, and involuntary movement. The involuntary movement was interpreted to be tremor at rest on physical examination and surface electromyography, which revealed mostly asynchronous contractions at 3-4 Hz of the biceps and triceps brachii muscles. All these symptoms were consistent with abnormalities of parkinsonism, which is caused by an insult to the basal ganglia that permeates the entire basal ganglia-thalamocortical circuitry. This report is the first to present a case of mucolipidosis type III alpha/beta in association with parkinsonism.