Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
作者： Kyoko Takano , Naoko Shiba , Keiko Wakui , Tomomi Yamaguchi , Noriko Aida
DOI: 10.1002/AJMG.A.37432
关键词:
摘要: Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with in adulthood (SENDA), is a subtype brain iron accumulation (NBIA). BPAN caused by mutations an X-linked gene WDR45 that involved autophagy. characterized developmental delay or intellectual disability until adolescence early adulthood, followed severe dystonia, parkinsonism, and progressive dementia. Brain magnetic resonance imaging (MRI) shows deposition the bilateral globus pallidus (GP) substantia nigra (SN). Clinical manifestations laboratory findings are limited. We report 3-year-old girl who presented characteristic facial features. In addition to chronic elevation serum aspartate transaminase, lactate dehydrogenase, creatine kinase, soluble interleukin-2 receptor, she had persistent neuron specific enolase (NSE) cerebrospinal fluid. MRI using susceptibility-weighted (SWI) demonstrated GP SN bilaterally. Targeted next-generation sequencing identified de novo splice-site mutation, c.831-1G>C WDR45, which resulted aberrant splicing evidenced reverse transcriptase-PCR. Persistent NSE on SWI may provide clues for diagnosis childhood.
sci-hub.se 参考文章(16)
YURIKA NUMATA, AKIRA ONUMA, YASUKO KOBAYASHI, IKUKO SATO-SHIRAI, SOICHIRO TANAKA, SATORU KOBAYASHI, KEISUKE WAKUSAWA, TAKEHIKO INUI, SHIGEO KURE, KAZUHIRO HAGINOYA, Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia Developmental Medicine & Child Neurology. ,vol. 55, pp. 167- 172 ,(2013) , 10.1111/DMCN.12013
Affef Abidi, Cécile Mignon-Ravix, Pierre Cacciagli, Nadine Girard, Mathieu Milh, Laurent Villard, Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient European Journal of Human Genetics. ,vol. 24, pp. 615- 618 ,(2016) , 10.1038/EJHG.2015.159
R. A. Wevers, K. J. B. Lamers, B. G. M. Van Engelen, F. J. M. Gabreëls, O.R. Hommes, G. F. Borm, Cerebrospinal neuron-specific enolase, S-100 and myelin basic protein in neurological disorders. Acta Neurologica Scandinavica. ,vol. 92, pp. 247- 251 ,(2009) , 10.1111/J.1600-0404.1995.TB01696.X
D.R. Hingwala, C. Kesavadas, B. Thomas, T.R. Kapilamoorthy, Susceptibility weighted imaging in the evaluation of movement disorders. Clinical Radiology. ,vol. 68, ,(2013) , 10.1016/J.CRAD.2012.12.003
Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu, Hirofumi Kodera, Satoko Kumada, Kenji Sugai, Emi Kasai-Yoshida, Noriko Sawaura, Hiroya Nishida, Ai Hoshino, Fukiko Ryujin, Seiichiro Yoshioka, Kiyomi Nishiyama, Yukiko Kondo, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Hirokazu Arakawa, Mitsuhiro Kato, Noboru Mizushima, Naomichi Matsumoto, De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood Nature Genetics. ,vol. 45, pp. 445- 449 ,(2013) , 10.1038/NG.2562
Frank Martin Schmidt, Roland Mergl, Barbara Stach, Ina Jahn, Hermann-Josef Gertz, Peter Schönknecht, Elevated levels of cerebrospinal fluid neuron-specific enolase (NSE) in Alzheimer's disease. Neuroscience Letters. ,vol. 570, pp. 81- 85 ,(2014) , 10.1016/J.NEULET.2014.04.007
Fadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo, Edouard Henrion, Alexandre Dionne-Laporte, Anne Fougerat, Alexey V Pshezhetsky, Sunita Venkateswaran, Guy A Rouleau, Jacques L Michaud, None, De Novo Mutations in Moderate or Severe Intellectual Disability PLoS Genetics. ,vol. 10, pp. e1004772- ,(2014) , 10.1371/JOURNAL.PGEN.1004772
Chihiro Ohba, Shin Nabatame, Yoshitaka Iijima, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Fumiaki Tanaka, Keiichi Ozono, Hirotomo Saitsu, Naomichi Matsumoto, De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain Journal of Human Genetics. ,vol. 59, pp. 292- 295 ,(2014) , 10.1038/JHG.2014.18
Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, Allison Gregory, Thomas Wieland, Thomas Schwarzmayr, Elisabeth Graf, Lynn Sanford, Esther Meyer, Eleanna Kara, Stephan M. Cuno, Sami I. Harik, Vasuki H. Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark Tarnopolsky, Steven Skinner, Steven Frucht, Era Hanspal, Connie Schrander-Stumpel, Delphine Héron, Cyril Mignot, Barbara Garavaglia, Kailash Bhatia, John Hardy, Tim M. Strom, Nathalie Boddaert, Henry H. Houlden, Manju A. Kurian, Thomas Meitinger, Holger Prokisch, Susan J. Hayflick, Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA American Journal of Human Genetics. ,vol. 91, pp. 1144- 1149 ,(2012) , 10.1016/J.AJHG.2012.10.019
Alisha W Bronietzki, Marc Schuster, Ingo Schmitz, Autophagy in T-cell development, activation and differentiation Immunology and Cell Biology. ,vol. 93, pp. 25- 34 ,(2015) , 10.1038/ICB.2014.81