Expansion of the clinicopathological and mutational spectrum of Perry syndrome.
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.


CONCLUSIONS
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.
Department of Neurology, Busan Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea.
Eun Joo
EJ
Chung
Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Ji Hye
JH
Hwang
Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Myung Jun
MJ
Lee
ILSONG Institute of Life Science, Hallym University, Anyang, Republic of Korea.
Jeong-Hoon
JH
Hong
Department of Neurology, Busan Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea.
Ki Hwan
KH
Ji
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.
Woo-Kyoung
WK
Yoo
Department of Neurology, Busan Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea.
Sang Jin
SJ
Kim
School of Life Sciences and Biotechnology, Korea University, Seoul, Republic of Korea.
Hyun Kyu
HK
Song
Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Chong S
CS
Lee
Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Myung-Sik
MS
Lee
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.
Yun Joong
YJ
Kim
D001483:Base Sequence; D003863:Depression / Q000235:genetics / Q000473:pathology; D000072159:Dynactin Complex; D005260:Female; D006801:Humans; D007040:Hypoventilation / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000473:pathology*; D049268:Positron-Emission Tomography; D019275:Radiopharmaceuticals; D057177:TDP-43 Proteinopathies
C000606360:DCTN1 protein, human; D000072159:Dynactin Complex; D008869:Microtubule-Associated Proteins; D019275:Radiopharmaceuticals
DCTN1; MR volumetry; Novel mutation; Perry syndrome; Positron-emission tomography