Eun Joo Chung1, Ji Hye Hwang2, Myung Jun Lee3, Jeong-Hoon Hong4, Ki Hwan Ji1, Woo-Kyoung Yoo5, Sang Jin Kim1, Hyun Kyu Song6, Chong S Lee2, Myung-Sik Lee3, Yun Joong Kim7. 1. Department of Neurology, Busan Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea. 2. Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea. 3. Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea. 4. ILSONG Institute of Life Science, Hallym University, Anyang, Republic of Korea. 5. Department of Physical and Rehabilitation Medicine, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Republic of Korea; Hallym Institute of Translational Genomics & Bioinformatics, Hallym University Medical Center, Republic of Korea. 6. School of Life Sciences and Biotechnology, Korea University, Seoul, Republic of Korea. 7. ILSONG Institute of Life Science, Hallym University, Anyang, Republic of Korea; Hallym Institute of Translational Genomics & Bioinformatics, Hallym University Medical Center, Republic of Korea; Department of Neurology, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Republic of Korea. Electronic address: yunkim@hallym.ac.kr.
Abstract
BACKGROUND: Perry syndrome (PS) caused by DCTN1 gene mutation is clinically characterized by autosomal dominant parkinsonism, depression, severe weight loss, and hypoventilation. Previous pathological studies have reported relative sparing of the cerebral cortex in this syndrome. Here, we characterize novel clinical and neuroimaging features in 3 patients with PS. METHODS: (18)F-fluorinated N-3-fluoropropyl-2-ß-carboxymethoxy-3-β-(4-iodophenyl) nortropane ([(18)F]FP-CIT) PET, [(18)F]fluorodeoxyglucose PET, or volumetric MRI was performed in probands, and imaging data were analyzed and compared with those of control subjects. RESULTS: We identified 2 novel mutations of DCTN1. Oculogyric crisis that presented before levodopa treatment was observed in 1 case. One patient had supranuclear gaze palsy. In 2 cases, [(18)F]FP-CIT showed marked loss of dopamine transporter binding with only mild parkinsonism. Areas of hypometabolism or cortical thickness change were observed in dorsolateral frontal, anterior cingulate, lateral temporal, and inferior parietal cortices. CONCLUSION: Oculomotor manifestations are not uncommon in PS. Neuroimaging studies suggest involvement of the frontotemporoparietal cortex, which may be the clinical correlate of apathy and depression, as well as pathological changes in subcortical structures.
BACKGROUND:Perry syndrome (PS) caused by DCTN1 gene mutation is clinically characterized by autosomal dominant parkinsonism, depression, severe weight loss, and hypoventilation. Previous pathological studies have reported relative sparing of the cerebral cortex in this syndrome. Here, we characterize novel clinical and neuroimaging features in 3 patients with PS. METHODS: (18)F-fluorinated N-3-fluoropropyl-2-ß-carboxymethoxy-3-β-(4-iodophenyl) nortropane ([(18)F]FP-CIT) PET, [(18)F]fluorodeoxyglucose PET, or volumetric MRI was performed in probands, and imaging data were analyzed and compared with those of control subjects. RESULTS: We identified 2 novel mutations of DCTN1. Oculogyric crisis that presented before levodopa treatment was observed in 1 case. One patient had supranuclear gaze palsy. In 2 cases, [(18)F]FP-CIT showed marked loss of dopamine transporter binding with only mild parkinsonism. Areas of hypometabolism or cortical thickness change were observed in dorsolateral frontal, anterior cingulate, lateral temporal, and inferior parietal cortices. CONCLUSION: Oculomotor manifestations are not uncommon in PS. Neuroimaging studies suggest involvement of the frontotemporoparietal cortex, which may be the clinical correlate of apathy and depression, as well as pathological changes in subcortical structures.
Authors: Takuya Konno; Owen A Ross; Hélio A G Teive; Jarosław Sławek; Dennis W Dickson; Zbigniew K Wszolek Journal: Parkinsonism Relat Disord Date: 2017-06-12 Impact factor: 4.891
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